|Institutional Source||Beutler Lab|
|Gene Name||cation channel, sperm associated 1|
|Is this an essential gene?||Probably non essential (E-score: 0.138)|
|Stock #||R4808 (G1)|
|Chromosomal Location||5335741-5344153 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 5344136 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 682 (D682N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045430 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025764] [ENSMUST00000043380]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: D682N
PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: D682N
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Catsper1||
(F):5'- GTTCCCAAGCGTACGTCATC -3'
(R):5'- CGGCACACTATTCGATTGC -3'
(F):5'- CCAAGCGTACGTCATCGATGAG -3'
(R):5'- TGCTTCAGGCTAGCCAGTAAG -3'