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Rat Gene Mutations Listed by Associated Disease
Mutated Gene	Function	Associated Phenotypes	Integration
Metabolic Disorders
Abcg2	Solute Transporter	Cancer Drug Resistance; dietary photosensitization; protoporphyria	Intron 6 of 15
Btrc	F-box, E3 Ubiquitin Ligase; WD40 Domain	Aberrant Circadian Rhythm; HIV Infection; Cancer	Intron 1 of 14
Cacna1e	Calcium Channel	Impaired Glucose Tolerance, body weight, motor activity, and behavior	Intron 6 of 46
Exoc6b	Polarized Exocytosis	Anemia; Hemoglobin Deficiency	Intron 1 of 21
Ksr2-like	Signal Transducer	Diabetes; Obesity	Intron 3 of 16
Pclo	Signaling in Pre-Synaptic Vesicles; Exocytosis	Diabetes; Autism	Intron 3 of 25
Tbc1d1	GAP domain; 2 PTB domains	Diabetes; Leanness; Obesity	Intron 1 of 26
Tmem57	Transmembrane Lycopene Cyclase	Coronary Heart Disease; Elevated Cholesterol	Intron 6 of 10

Cancer
Abca13	Putative Solute Transporter	Shwachman–Diamond Syndrome; Cancer Metastasis	Intron 53 of 66
Abcg2	Solute Transporter	Cancer Drug Resistance; dietary photosensitization; protoporphyria	Intron 6 of 15
Btrc	F-box, E3 Ubiquitin Ligase; WD40 Domain	Aberrant Circadian Rhythm; HIV Infection; Cancer	Intron 1 of 14
CDK8	CDK Family Kinase	Colon Cancer Oncogene; HIV Latency	Intron 6 of 11
Dlg1	Signal Transducer	Tumor Suppressor; Anti-Viral Activity	Intron 6 of 28
Ssbp2	DNA Metabolism	Prostate Tumor Marker; Tumor Suppressor	Intron 3 of 16
Zmynd8	Zinc finger Domain	T-Cell Lymphoma-Assoc. Antigen	Intron 4 of 24

Neurological & Behavioral Disorders
Abca13	Putative Solute Transporter	Shwachman–Diamond Syndrome; Cancer Metastasis	Intron 53 of 66
Art3	ADP Ribosylation	Abnormal CNS Repair	Intron 1 of 9
Cacna1e	Calcium Channel	Impaired Glucose Tolerance, body weight, motor activity, and behavior	Intron 6 of 46
Grik3	Glutamate Receptor, Alcoholism; Schizophrenia	Obsessive-Compulsive	Exon 11 of 16
Lmx1a	LIM Homeobox transcription factor	Neurological and skeletal defects; Inner ear defects; Deafness; Belly spotting	Intron 2 of 7
Pclo	Signaling in Pre-Synaptic Vesicles; Exocytosis	Diabetes; Autism	Intron 3 of 25
Slc1a3	High Affinity Glutamate Transporter	Episodic Ataxia; Hemiplegia; Seizures	Intron 2 of 9
Slc35a3	Golgi Sugar Transporter	Vertebrate Fusion	Intron 1 of 7
Ube2k	Ubiquitin-Conjugating Enzyme; E2 Ligase	Huntington's Disease; Alzheimer's Disease	Intron 1 of 6

Fertility
Kif18a	Kinesin 8	Infertility	Intron 14 of 15
Mei4	Meiotic Recombination	Required for Meiotic DNA double strand breaks	Intron 2 of 4

Developmental Defects
Bmpr1a	BMP Receptor	Embryonic lethal; lack of mesoderm; limb malformation; renal failure	Intron 1 of 10
Ctnnd1	Catenin, delta 1	Abnormal salivary/lacrimal glands; early postnatal lethal	Intron 1 of 17 or 18
Lmx1a	LIM Homeobox transcription factor	Neurological and skeletal defects; Inner ear defects; Deafness; Belly spotting	Intron 2 of 7
Mrc2	Mannose Receptor	Altered muscle mass, fibroblast activity, collagen metabolism	Intron 18 of 29
Ptpn2	Protein tyrosine phosphatase	Reduced lifespan; abnormal hematopoiesis; enhanced inflammation	Intron 7 of 9
Tead1	Transcriptional Enhancer	Abnormal heart development; Embryonic lethal	Intron 1 of 10 - 12

Cardiovascular & Kidney Disease
Bmpr1a	BMP Receptor	Embryonic lethal; lack of mesoderm; limb malformation; renal failure	Intron 1 of 10
Tead1	Transcriptional Enhancer	Abnormal heart development; Embryonic lethal	Intron 1 of 10 - 12

Gastrointestinal Disorders
Ctnnd1	Catenin, delta 1	Abnormal salivary/lacrimal glands; early postnatal lethal	Intron 1 of 17 or 18

Bone Defects
Lmx1a	LIM Homeobox transcription factor	Neurological and skeletal defects; Inner ear defects; Deafness; Belly spotting	Intron 2 of 7

Immune System
Ptpn2	Protein tyrosine phosphatase	Reduced lifespan; abnormal hematopoiesis; enhanced inflammation	Intron 7 of 9

Unknown Phenotype
Arhgap26	Rho GTPase activating protein 26	Unknown Phenotype	Intron 17 of 23
Arl8a	Small GTPase; Microtubule Dynamics	Unknown Phenotype	Intron 1 of 6
Csnk1g1	Casein Kinase 1, gamma 1	Unknown Phenotype	Intron 5 of 11
Fars2	Phenylalanyl-tRNA synthetase	Unknown Phenotype	Intron 2 of 9
Fbxo18	F-box, E3 Ubiquitin Ligase; DNA Helicase Domain	Unknown Phenotype	Intron 19 of 22
Fstl5	TGF-beta-Family Signal Transduction	Unknown Phenotype	Intron 3 of 15
Gsg1l	Claudin Family; Germ Cell-Specific Domain	Unknown Phenotype	Intron 3 of 6
Pan3	RNA Metabolism	Unknown Phenotype	Intron 11 of 25
Papd4	Polyadenylation; MicroRNA Stabilization	Unknown Phenotype	Intron 7 of 14
Ptprh	Protein tyrosine phosphatase	Unknown Phenotype	Intron 1 or 2 of 14
Rbpms	RNA Binding	Unknown Phenotype	Intron 6 of 7
RGD1305225	C3orf19 Homolog	Unknown Phenotype	Intron 3 of 10 or 11
RGD1306353	Zfp198-like	Unknown Phenotype	Intron 1 of 3
RGD1559958	Fam73a-like	Unknown Phenotype	Intron 13 of 21 or 1 of 12
Rprd1a	Cell Cycle	Unknown Phenotype	Intron 7 of 7
Smndc1	RNA binding, splicing	Unknown Phenotype	Intron 4 of 5
Spaca6	Golgi Transmembrane Protein	Unknown Phenotype	Intron 2 of 8
Tmx4	Cellular Redox Homeostasis	Unknown Phenotype	Intron 5 of 7
Ube2q2	Ubiquitin-Conjugating Enzyme; E2 Ligase	Unknown Phenotype	Intron 1 of 14
Zfp948-ps1	Zinc Finger Protein	Unknown Phenotype	Intron 1; pseudogene

Rat Gene Mutations Listed by Associated Disease

Mutated Gene

Function

Associated Phenotypes

Integration