Chrm1 - SNV Details



 Gene Information 
Gene Name Chrm1
Old Gene Names for Chrm1 Chrm-1 , Aw495047
Gene Description cholinergic receptor, muscarinic 1, CNS [Source:MGI Symbol;Acc:MGI:88396]
MGI phenotype Homozygotes for targeted null mutations exhibit resistance to pilocarpine-induced seizures, selective memory deficits, elevated dopaminergic transmission in the striatum, and increased spontaneous and amphetamine-induced locomotion.
Uniprot Name
CCDS Name
Gene GO
regulation of locomotion; G-protein coupled acetylcholine receptor activity; postsynaptic membrane; axon terminus; integral to membrane; drug binding; neuromuscular synaptic transmission; G-protein coupled acetylcholine receptor signaling pathway; cell junction; positive regulation of ion transport; G-protein coupled receptor signaling pathway; plasma membrane; dendrite; asymmetric synapse; postsynaptic density
Homolog in other species CHRM1
Omim http://omim.org/entry/118510
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032773
Chromosome 19
Coordinate 8,679,130     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgg/Cgg
Var Base C
Zygosity Heterozygous
Read Depth 10
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 400
Amino Acid Change W->R (Tryptophan -> Arginine)
Sample ID IGL01824
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 0.79
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000042632:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
G protein-coupled receptor, rhodopsin-like GPCR_Rhodpsn IPR000276 ENSMUSP00000042632 Pfam 42
418 Description available Search pathways
GPCR, rhodopsin-like, 7TM GPCR_Rhodpsn_7TM IPR017452 ENSMUSP00000042632 Prosite_profiles 42
418 Description available Search pathways

 Availability Details 
Availability Cryopreserved