Incidental Mutation 'IGL03243:Catsper2'
ID414317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Catsper2
Ensembl Gene ENSMUSG00000033486
Gene Namecation channel, sperm associated 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL03243
Quality Score
Status
Chromosome2
Chromosomal Location121392631-121413792 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121406819 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 200 (H200R)
Ref Sequence ENSEMBL: ENSMUSP00000037222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038073] [ENSMUST00000154604]
Predicted Effect probably benign
Transcript: ENSMUST00000038073
AA Change: H200R

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486
AA Change: H200R

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Pfam:Ion_trans 105 350 1e-35 PFAM
low complexity region 422 447 N/A INTRINSIC
internal_repeat_1 450 473 3.72e-11 PROSPERO
internal_repeat_1 465 488 3.72e-11 PROSPERO
low complexity region 491 502 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123982
Predicted Effect probably benign
Transcript: ENSMUST00000154604
SMART Domains Protein: ENSMUSP00000119091
Gene: ENSMUSG00000033486

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,696 T586A probably benign Het
Agtr1b T C 3: 20,315,795 T216A probably benign Het
Ankdd1a T C 9: 65,501,470 R505G probably benign Het
Anxa3 A T 5: 96,828,692 probably benign Het
Atp6v1c2 C T 12: 17,289,121 V210I probably benign Het
BC034090 G A 1: 155,225,655 P288S possibly damaging Het
Cntnap5c G T 17: 58,102,176 A470S probably benign Het
Fcho2 G A 13: 98,777,384 probably benign Het
Frem1 A C 4: 83,013,969 L165R probably damaging Het
Gm5155 A T 7: 17,918,649 noncoding transcript Het
Gpn1 G A 5: 31,510,831 probably null Het
Gpr179 T C 11: 97,351,475 N181S probably benign Het
Heatr5b A T 17: 78,763,080 probably benign Het
Kat6a A G 8: 22,910,222 N333S possibly damaging Het
Lrp5 T C 19: 3,630,159 T442A probably benign Het
Myo15 G T 11: 60,496,518 L722F probably damaging Het
Nlrp9c T G 7: 26,365,032 D957A probably damaging Het
Nupl1 T A 14: 60,221,616 T521S probably benign Het
Olfr58 T G 9: 19,783,268 I45S probably damaging Het
Plek C A 11: 16,995,319 V4L possibly damaging Het
Sell T A 1: 164,065,342 H42Q possibly damaging Het
Slfn8 A T 11: 83,003,707 I702K probably damaging Het
Svep1 T C 4: 58,133,387 I573V probably benign Het
Tgm1 T A 14: 55,705,907 I526F probably damaging Het
Tmem30c A T 16: 57,276,150 S203T probably benign Het
Tox T C 4: 6,697,597 N402S possibly damaging Het
Trav7d-4 C A 14: 52,770,098 probably benign Het
Unc13d A T 11: 116,067,844 V784D probably benign Het
Vmn2r68 A G 7: 85,233,755 V263A possibly damaging Het
Zfp385c A T 11: 100,634,747 V56D probably damaging Het
Znrf2 A T 6: 54,884,769 I222L possibly damaging Het
Other mutations in Catsper2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Catsper2 APN 2 121397892 splice site probably benign
IGL01830:Catsper2 APN 2 121407362 missense probably damaging 1.00
IGL03247:Catsper2 APN 2 121410200 missense probably benign 0.03
IGL03342:Catsper2 APN 2 121406736 missense probably damaging 0.99
FR4304:Catsper2 UTSW 2 121397542 nonsense probably null
FR4304:Catsper2 UTSW 2 121397782 utr 3 prime probably benign
FR4342:Catsper2 UTSW 2 121397793 utr 3 prime probably benign
FR4589:Catsper2 UTSW 2 121397779 utr 3 prime probably benign
FR4737:Catsper2 UTSW 2 121397540 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397542 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397779 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397782 utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121397795 utr 3 prime probably benign
R1463:Catsper2 UTSW 2 121406446 missense probably damaging 1.00
R1686:Catsper2 UTSW 2 121400042 critical splice donor site probably null
R2006:Catsper2 UTSW 2 121406357 nonsense probably null
R2163:Catsper2 UTSW 2 121400175 missense probably damaging 1.00
R4543:Catsper2 UTSW 2 121407409 nonsense probably null
R4888:Catsper2 UTSW 2 121397123 splice site probably null
R5121:Catsper2 UTSW 2 121397123 splice site probably null
R5323:Catsper2 UTSW 2 121406735 missense probably damaging 1.00
R5518:Catsper2 UTSW 2 121406363 missense possibly damaging 0.69
R5605:Catsper2 UTSW 2 121397052 missense possibly damaging 0.91
R6521:Catsper2 UTSW 2 121406807 missense probably damaging 1.00
R6531:Catsper2 UTSW 2 121399780 missense possibly damaging 0.67
R7055:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
R7138:Catsper2 UTSW 2 121397063 missense possibly damaging 0.85
R7240:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
R7247:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
R7760:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
R7874:Catsper2 UTSW 2 121397572 utr 3 prime probably benign
RF028:Catsper2 UTSW 2 121397726 utr 3 prime probably benign
Z1176:Catsper2 UTSW 2 121407385 missense probably damaging 0.97
Posted On2016-08-02