Gabrr2 - SNV Details



 Gene Information 
Gene Name Gabrr2
Gene Description gamma-aminobutyric acid (GABA) C receptor, subunit rho 2 [Source:MGI Symbol;Acc:MGI:95626]
Uniprot Name
CCDS Name
Gene GO
GABA-A receptor activity; postsynaptic membrane; membrane; integral to membrane; chloride channel complex; extracellular ligand-gated ion channel activity; chloride transport; cell junction; axon; chloride channel activity; visual perception; protein domain specific binding; transport; ion transport; plasma membrane; gamma-aminobutyric acid signaling pathway
Homolog in other species GABRR2
Omim http://omim.org/entry/137162
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023267
Chromosome 4
Coordinate 33,085,626     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtg/Atg
Var Base A
Zygosity Heterozygous
Read Depth 33
Allele Frequency
G:R0.33
A:V0.67
Amino Acid Position 349
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL01410
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000024035:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Neurotransmitter-gated ion-channel Neur_channel IPR006201 ENSMUSP00000024035 TIGRfam 87
488 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved