Gabrp - SNV Details



 Gene Information 
Gene Name Gabrp
Gene Description gamma-aminobutyric acid (GABA) A receptor, pi [Source:MGI Symbol;Acc:MGI:2387597]
MGI phenotype Homozygous mutation of this gene does not appear to result in a phenotype.
Uniprot Name
CCDS Name
Gene GO
GABA-A receptor activity; postsynaptic membrane; membrane; chloride transmembrane transport; chloride channel complex; signal transduction; extracellular ligand-gated ion channel activity; integral component of membrane; cell junction; chloride channel activity; transport; ion transport
Homolog in other species GABRP
Omim http://omim.org/entry/602729
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN, SEPTUM.RESP.EPITH)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020159
Chromosome 11
Coordinate 33,554,980     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 16
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL03031
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved