|Institutional Source||Beutler Lab|
|Gene Name||cation channel, sperm associated 2|
|Essential gene?||Probably non essential (E-score: 0.098)|
|Stock #||R6531 (G1)|
|Chromosomal Location||121392631-121413792 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 121399780 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 358 (V358L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037222 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038073] [ENSMUST00000154604]|
|AlphaFold||no structure available at present|
AA Change: V358L
PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: V358L
|Meta Mutation Damage Score||0.1746|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
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. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null male mice are infertile due to a sperm motility defect. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Catsper2||
(F):5'- AGTGATTCAGAGTGCTGTCTCC -3'
(R):5'- CCCAGTGTAGCAAGGAAGTG -3'
(F):5'- GAGTGCTGTCTCCTACAAAAAG -3'
(R):5'- TGTAGCAAGGAAGTGTGGATATTG -3'