Glra3 - SNV Details



 Gene Information 
Gene Name Glra3
Gene Description glycine receptor, alpha 3 subunit [Source:MGI Symbol;Acc:MGI:95749]
MGI phenotype Homozygous null mice are fertile and display decreased inflammatory pain sensitization without any gross abnormalities in the brain or spinal cord.
Uniprot Name
CCDS Name
Gene GO
postsynaptic membrane; membrane; integral to membrane; chloride channel complex; extracellular ligand-gated ion channel activity; extracellular-glycine-gated chloride channel activity; integral to plasma membrane; transmitter-gated ion channel activity; cell junction; transport; ion transport; glycine binding
Homolog in other species GLRA3
Omim http://omim.org/entry/600421
Immgen Expression
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038257
Chromosome 8
Coordinate 56,089,055     (Assembly: GRCm38)    
Ref Base A
Codon Change Atc/Gtc
Var Base G
Zygosity Heterozygous
Read Depth 17
Allele Frequency
A:R0.41
G:V0.59
Amino Acid Position 278
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01772
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 22 Other Mutations

 Predictions 
Sift Score 0.2
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000000275:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Neurotransmitter-gated ion-channel Neur_channel IPR006201 ENSMUSP00000000275 TIGRfam 30
467 Description available Search pathways
Gamma-aminobutyric acid A receptor GABAA_rcpt IPR006028 ENSMUSP00000000275 Prints 272
292 Description available Search pathways
Neurotransmitter-gated ion-channel transmembrane domain Neurotrans-gated_channel_TM IPR006029 ENSMUSP00000000275 Pfam 276
386 Description available Search pathways
Neurotransmitter-gated ion-channel transmembrane domain Neurotrans-gated_channel_TM IPR006029 ENSMUSP00000000275 Superfamily 269
479 Description available Search pathways

 Availability Details 
Availability Cryopreserved