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