Trpc4 - SNV Details



 Gene Information 
Gene Name Trpc4
Old Gene Names for Trpc4 Trrp4
Gene Description transient receptor potential cation channel, subfamily C, member 4 [Source:MGI Symbol;Acc:MGI:109525]
MGI phenotype Homozygous null mice exhibit a significant reduction in agonist-induced Ca2+ entry and vasorelaxation of aortic rings.
Uniprot Name
CCDS Name
Gene GO
cortical cytoskeleton; gamma-aminobutyric acid secretion; membrane; cadherin binding; caveola; integral to membrane; beta-catenin binding; calcium ion import; membrane raft; integral to plasma membrane; protein complex; cell-cell junction; protein binding; cell surface; ion channel activity; ion transport; transmembrane transport; plasma membrane; inositol 1
4
5 trisphosphate binding; regulation of calcium ion transport; basolateral plasma membrane; calcium channel complex; store-operated calcium channel activity
Homolog in other species TRPC4
Omim http://omim.org/entry/603651
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000027748
Chromosome 3
Coordinate 54,266,074     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.57
A:V0.43
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL01688
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved