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Rat Gene Mutations Listed by Cellular Function
Mutated Gene	Function	Associated Phenotypes	Integration
G-Protein/GTPase signaling
Arhgap26	Rho GTPase activating protein 26	Unknown Phenotype	Intron 17 of 23
Arl8a	Small GTPase; Microtubule Dynamics	Unknown Phenotype	Intron 1 of 6
Exoc6b	Polarized Exocytosis	Anemia; Hemoglobin Deficiency	Intron 1 of 21
Tbc1d1	GAP domain; 2 PTB domains	Diabetes; Leanness; Obesity	Intron 1 of 26

Kinases & other Signal Transducers
Art3	ADP Ribosylation	Abnormal CNS repair	Intron 1 of 9
Bmpr1a	BMP Receptor	Embryonic lethal; lack of mesoderm; limb malformation; renal failure	Intron 1 of 10
CDK8	CDK Family Kinase	Colon Cancer Oncogene; HIV Latency	Intron 6 of 11
Csnk1g1	Casein Kinase 1, gamma 1	Unknown	Intron 5 of 11
Ctnnd1	Catenin, delta 1	Abnormal salivary/lacrimal glands; Early Postnatal Lethal	Intron 1 of 17 or 18
Dlg1	Signal Transducer	Tumor Suppressor; Anti-Viral Activity	Intron 6 of 28
Fstl5	TGF-beta-Family Signal Transduction	Unknown Phenotype	Intron 3 of 15
Ksr2-like	Signal Transducer	Diabetes; Obesity	Intron 3 of 16
Pclo	Signaling in Pre-Synaptic Vesicles; Exocytosis	Diabetes; Autism	Intron 3 of 25
Ptpn2	Protein tyrosine phosphatase	Reduced lifespan; abnormal hematopoiesis; enhanced inflammation	Intron 7 of 9
Ptprh	Protein tyrosine phosphatase	Unknown	Intron 1 or 2 of 14

Transcription Factors
Lmx1a	LIM Homeobox transcription factor	Neurological and skeletal defects; Inner ear defects; Deafness; Belly spotting	Intron 2 of 7
RGD1306353	Zfp198-like	Unknown	Intron 1 of 3
Tead1	Transcriptional Enhancer	Abnormal heart developemnt; embryonic lethal	Intron 1 of 10 - 12
Zfp948	Zinc Finger Protein	Unknown	Intron 1; pseudogene
Zmynd8	Zinc finger Domain	T-Cell Lymphoma-Assoc. Antigen	Intron 4 of 24

Solute Transporters and Channels
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
Cacna1e	Calcium Channel	Impaired glucose tolerance, body weight, motor activity, and behavior	Intron 6 of 46
Slc1a3	High Affinity Glutamate Transporter	Episodic Ataxia; Hemiplegia; Seizures	Intron 2 of 9
Slc35a3	Golgi Sugar Transporter	Vertebrate Fusion	Intron 1 of 7

Exocytosis, Endocytosis, and Vesicle Transport
Exoc6b	Polarized Exocytosis	Anemia; Hemoglobin Deficiency	Intron 1 of 21
Dlg1	Signal Transducer	Tumor Suppressor; Anti-Viral Activity	Intron 6 of 28
Pclo	Signaling in Pre-Synaptic Vesicles; Exocytosis	Diabetes; Autism	Intron 3 of 25

Proteasome Pathways & Ubiquitin Ligases
Btrc	F-box, E3 Ubiquitin Ligase; WD40 Domain	Aberrant Circadian Rhythm; HIV Infection; Cancer	Intron 1 of 14
Fbxo18	F-box, E3 Ubiquitin Ligase; DNA Helicase Domain	Unknown Phenotype	Intron 19 of 22
Ube2k	Ubiquitin-Conjugating Enzyme; E2 Ligase	Huntington's Disease; Alzheimer's Disease	Intron 1 of 6
Ube2q2	Ubiquitin-Conjugating Enzyme; E2 Ligase	Unknown Phenotype	Intron 1 of 14

General Metabolism
Fars2	Phenylalanyl-tRNA synthetase	Unknown Phenotype	Intron 2 of 9
Tmx4	Cellular Redox Homeostasis	Unknown Phenotype	Intron 5 of 7

RNA and DNA Regulation, Metabolism, and Repair
Mei4	Meiotic Recombination	Required for Meiotic DNA double-strand breaks	Intron 2 of 4
Pan3	RNA Metabolism	Unknown Phenotype	Intron 11 of 25
Papd4	Polyadenylation; MicroRNA stabilization	Unknown	Intron 7 of 14
Rbpms	RNA Binding	Unknown	Intron 6 of 7
Smndc1	RNA Binding, Splicing	Unknown	Intron 4 of 5
Ssbp2	DNA Metabolism	Prostate Tumor Marker; Tumor Suppressor	Intron 3 of 16

Cell Adhesion & Extracellular Matrix
Cdh17	Liver/Intestine Cell Adhesion; Peptide Transporter	Hepatocellular carcinoma; Intestinal Cancer	Intron 10 of 18
Mrc2	Mannose Receptor	Altered muscle mass, fibroblast activity, collagen metabolism	Intron 18 of 29

Other Specialized Transmembrane Proteins
Grik3	Glutamate Receptor, Alcoholism; Schizophrenia	Obsessive-Compulsive Disorder	Exon 11 of 16
Gsg1l	Claudin Family; Germ Cell-Specific Domain	Unknown Phenotype	Intron 3 of 6
Mrc2	Mannose Receptor	Altered muscle mass, fibroblast activity, collagen metabolism	Intron 18 of 29
Spaca6	Golgi Transmembrane Protein	Unknown Phenotype	Intron 2 of 8
Tmem57	Transmembrane Lycopene Cyclase	Coronary Heart Disease; Elevated Cholesterol	Intron 6 of 10

Cell Cycle and Cytoskeleton
Kif18a	Kinesin 8	Infertility	Intron 14 of 15
Rprd1a	Cell Cycle	Unknown Phenotype	Intron 7 of 7

Unknown
RGD1305225	C3orf19 Homolog	Embryonic lethality	Intron 3 of 10 or 11
RGD1559958	Fam73a-like	Unknown	Intron 13 of 21 or 2 of 12

Rat Gene Mutations Listed by Cellular Function

Mutated Gene

Function

Associated Phenotypes

Integration