Catsper3 - SNV Details



 Gene Information 
Gene Name Catsper3
Old Gene Names for Catsper3 4921522d01rik
Gene Description cation channel, sperm associated 3 [Source:MGI Symbol;Acc:MGI:1924106]
MGI phenotype Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile.
Uniprot Name
CCDS Name
Gene GO
regulation of ion transmembrane transport; cilium; membrane; calcium ion import; endoplasmic reticulum; sperm capacitation; acrosomal vesicle; protein binding; ion channel activity; CatSper complex; ion transport; voltage-gated calcium channel activity; calcium activated cation channel activity; transmembrane transport; sperm motility; membrane depolarization during action potential; multicellular organismal development; sodium ion transport
Homolog in other species CATSPER3
Omim http://omim.org/entry/609120
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021499
Chromosome 13
Coordinate 55,798,822     (Assembly: GRCm38)    
Ref Base A
Codon Change Aag/Gag
Var Base G
Zygosity Heterozygous
Read Depth 87
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Position 111
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL00233
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging
Sift Score 0.05
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000021961:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ion transport domain Ion_trans_dom IPR005821 ENSMUSP00000021961 Pfam 87
267 Description available Search pathways

 Availability Details 
Availability Cryopreserved