Catsper1 - SNV Details



 Human Rare Diseases 
CATSPER1-related non syndromic male infertility

 Gene Information 
Gene Name Catsper1
Gene Description cation channel, sperm associated 1 [Source:MGI Symbol;Acc:MGI:2179947]
MGI phenotype Homozygotes for a targeted null mutation exhibit sperm with markedly decreased motility that are unable to fertilize ova and lack a calcium ion influx response to cyclic-AMP.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; flagellar membrane; cilium; ATP synthesis coupled proton transport; membrane; proton-transporting ATPase activity
rotational mechanism; spermatogenesis; hydrogen ion transporting ATP synthase activity
rotational mechanism; calcium ion transport; protein binding; ion channel activity; fusion of sperm to egg plasma membrane; CatSper complex; ion transport; proton-transporting ATP synthase complex
catalytic core F(1); ciliary or flagellar motility; voltage-gated calcium channel activity; transmembrane transport; plasma membrane; sperm motility; regulation of calcium ion transport; multicellular organismal development
Homolog in other species CATSPER1
Omim http://omim.org/entry/606389
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038498
Chromosome 19
Coordinate 5,336,188     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 146
Allele Frequency
T:R0.51
C:V0.49
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02560
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.85
Polyphen Prediction Possibly damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved