Grm6 - SNV Details



 Human Rare Diseases 
Congenital stationary night blindness

 Gene Information 
Gene Name Grm6
Old Gene Names for Grm6 Bc021919 , Gm-3 , Gm3 , Gprc1f
Gene Description glutamate receptor, metabotropic 6 [Source:MGI Symbol;Acc:MGI:1351343]
MGI phenotype Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude.
Uniprot Name
CCDS Name
Gene GO
synaptic transmission; postsynaptic membrane; adenylate cyclase inhibiting G-protein coupled glutamate receptor activity; integral to membrane; signal transduction; retina development in camera-type eye; group III metabotropic glutamate receptor activity; adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway; visual perception; G-protein coupled receptor activity; G-protein coupled receptor signaling pathway; sensory perception of light stimulus; plasma membrane; new growing cell tip; locomotory behavior
Homolog in other species GRM6
Omim http://omim.org/entry/604096
Immgen Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000000617
Chromosome 11
Coordinate 50,859,656     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgt/Agt
Var Base A
Zygosity Heterozygous
Read Depth 15
Allele Frequency
T:R0.60
A:V0.40
Amino Acid Position 549
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL02121
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved