Incidental Mutation 'R5077:Catsper1'
ID 401962
Institutional Source Beutler Lab
Gene Symbol Catsper1
Ensembl Gene ENSMUSG00000038498
Gene Name cation channel, sperm associated 1
Synonyms KSper
MMRRC Submission 042666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R5077 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5385769-5394308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5385998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000045430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043380]
AlphaFold Q91ZR5
Predicted Effect probably damaging
Transcript: ENSMUST00000043380
AA Change: D77G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045430
Gene: ENSMUSG00000038498
AA Change: D77G

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
low complexity region 128 141 N/A INTRINSIC
low complexity region 202 225 N/A INTRINSIC
low complexity region 230 242 N/A INTRINSIC
low complexity region 290 304 N/A INTRINSIC
low complexity region 308 321 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
Pfam:Ion_trans 350 584 1.7e-34 PFAM
Pfam:PKD_channel 439 583 6.5e-7 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 93% (51/55)
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. [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
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,080,200 (GRCm39) V8A possibly damaging Het
Agbl4 A T 4: 111,423,939 (GRCm39) M322L probably benign Het
Ankrd55 A G 13: 112,492,522 (GRCm39) K231R probably benign Het
Asap1 A C 15: 63,999,272 (GRCm39) M534R probably damaging Het
B4galnt2 T A 11: 95,767,140 (GRCm39) probably benign Het
Cacna1e A T 1: 154,437,475 (GRCm39) probably null Het
Cacna1h T C 17: 25,594,224 (GRCm39) I2311M probably benign Het
Capn2 G T 1: 182,300,138 (GRCm39) D617E possibly damaging Het
Cdc42bpa A T 1: 179,922,098 (GRCm39) probably benign Het
Cdca8 T C 4: 124,820,470 (GRCm39) K109E probably damaging Het
Dbx1 A G 7: 49,283,242 (GRCm39) S223P probably damaging Het
Dlg4 A G 11: 69,917,852 (GRCm39) N45S possibly damaging Het
Dlgap2 T G 8: 14,872,691 (GRCm39) V723G probably benign Het
Efl1 C A 7: 82,307,295 (GRCm39) Q64K probably damaging Het
Eml1 T A 12: 108,472,871 (GRCm39) probably benign Het
Fbxw16 A G 9: 109,270,117 (GRCm39) probably null Het
Gm10800 A T 2: 98,497,379 (GRCm39) L80M probably benign Het
H4c16 A G 6: 136,781,113 (GRCm39) Y89H probably benign Het
Insig2 A T 1: 121,239,964 (GRCm39) V112E probably damaging Het
Kcnip3 A G 2: 127,307,797 (GRCm39) S123P probably damaging Het
Map3k9 T C 12: 81,780,851 (GRCm39) probably null Het
Myo16 T C 8: 10,372,658 (GRCm39) V119A probably damaging Het
Naa25 G A 5: 121,562,639 (GRCm39) V474M probably benign Het
Nckap1 A T 2: 80,379,277 (GRCm39) V219E probably damaging Het
Niban1 A G 1: 151,590,274 (GRCm39) I523V probably benign Het
Nrp1 G T 8: 129,227,154 (GRCm39) probably null Het
Nsun4 A T 4: 115,905,781 (GRCm39) D58E probably benign Het
Obscn G T 11: 58,934,883 (GRCm39) A5249D probably damaging Het
Or8k53 A T 2: 86,177,683 (GRCm39) H142Q probably benign Het
Osmr A T 15: 6,873,874 (GRCm39) Y174* probably null Het
Pi4k2a T C 19: 42,108,275 (GRCm39) probably null Het
Pram1 C T 17: 33,863,878 (GRCm39) Q572* probably null Het
Prdm5 C A 6: 65,756,158 (GRCm39) T25K probably damaging Het
Psen1 T C 12: 83,771,439 (GRCm39) Y240H probably damaging Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rbck1 A C 2: 152,160,371 (GRCm39) M436R probably benign Het
Resf1 T G 6: 149,227,528 (GRCm39) S191R probably benign Het
Rmnd1 T C 10: 4,377,488 (GRCm39) N64D possibly damaging Het
Rsph4a A G 10: 33,784,275 (GRCm39) D299G probably damaging Het
Sema4c T C 1: 36,590,812 (GRCm39) S480G probably benign Het
Srp68 T C 11: 116,136,638 (GRCm39) D552G probably damaging Het
Syde2 G T 3: 145,707,764 (GRCm39) A568S probably damaging Het
Szrd1 G T 4: 140,867,092 (GRCm39) probably null Het
Szt2 A T 4: 118,226,813 (GRCm39) probably null Het
Tbc1d31 A G 15: 57,818,797 (GRCm39) E800G probably benign Het
Tmprss11d C A 5: 86,457,122 (GRCm39) probably null Het
Usp37 A G 1: 74,480,720 (GRCm39) V895A probably damaging Het
Vmn1r19 T C 6: 57,382,026 (GRCm39) I193T probably benign Het
Vmn2r102 T C 17: 19,897,834 (GRCm39) V283A probably benign Het
Vps13d C T 4: 144,814,811 (GRCm39) G3180D probably damaging Het
Xirp2 A C 2: 67,344,821 (GRCm39) D2354A probably benign Het
Zc3h14 T A 12: 98,723,465 (GRCm39) probably null Het
Other mutations in Catsper1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Catsper1 APN 19 5,387,800 (GRCm39) missense probably damaging 1.00
IGL01361:Catsper1 APN 19 5,389,507 (GRCm39) missense probably damaging 1.00
IGL02413:Catsper1 APN 19 5,386,264 (GRCm39) missense possibly damaging 0.46
IGL02560:Catsper1 APN 19 5,386,216 (GRCm39) missense possibly damaging 0.93
IGL03335:Catsper1 APN 19 5,386,339 (GRCm39) missense probably damaging 0.97
R0002:Catsper1 UTSW 19 5,391,551 (GRCm39) splice site probably benign
R0164:Catsper1 UTSW 19 5,389,503 (GRCm39) missense possibly damaging 0.93
R0164:Catsper1 UTSW 19 5,389,503 (GRCm39) missense possibly damaging 0.93
R0324:Catsper1 UTSW 19 5,386,573 (GRCm39) missense probably damaging 0.99
R1782:Catsper1 UTSW 19 5,385,937 (GRCm39) missense probably benign 0.01
R2301:Catsper1 UTSW 19 5,390,426 (GRCm39) missense probably benign 0.41
R3864:Catsper1 UTSW 19 5,386,204 (GRCm39) missense possibly damaging 0.93
R4808:Catsper1 UTSW 19 5,394,164 (GRCm39) missense possibly damaging 0.76
R4941:Catsper1 UTSW 19 5,391,466 (GRCm39) missense possibly damaging 0.90
R4983:Catsper1 UTSW 19 5,385,991 (GRCm39) missense probably benign 0.26
R5072:Catsper1 UTSW 19 5,390,074 (GRCm39) splice site probably null
R5629:Catsper1 UTSW 19 5,386,165 (GRCm39) missense probably benign 0.00
R6402:Catsper1 UTSW 19 5,389,524 (GRCm39) missense probably damaging 1.00
R6875:Catsper1 UTSW 19 5,393,991 (GRCm39) missense probably damaging 0.99
R7368:Catsper1 UTSW 19 5,386,691 (GRCm39) missense unknown
R7510:Catsper1 UTSW 19 5,389,578 (GRCm39) missense probably benign 0.26
R8837:Catsper1 UTSW 19 5,386,070 (GRCm39) missense probably damaging 0.96
R9033:Catsper1 UTSW 19 5,387,864 (GRCm39) critical splice donor site probably null
R9129:Catsper1 UTSW 19 5,390,402 (GRCm39) splice site probably benign
R9210:Catsper1 UTSW 19 5,391,535 (GRCm39) missense probably benign 0.00
R9429:Catsper1 UTSW 19 5,389,755 (GRCm39) missense possibly damaging 0.88
R9489:Catsper1 UTSW 19 5,387,785 (GRCm39) missense probably benign 0.06
R9605:Catsper1 UTSW 19 5,387,785 (GRCm39) missense probably benign 0.06
Z1177:Catsper1 UTSW 19 5,393,911 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAGTCTTACCATGAGACACAC -3'
(R):5'- GGTGGGACAAAGGTTCACTG -3'

Sequencing Primer
(F):5'- CGGTAGCTTAGACCCAAGC -3'
(R):5'- ACAAAGGTTCACTGGGTCTATG -3'
Posted On 2016-07-22