Incidental Mutation 'R4808:Catsper1'
ID 370861
Institutional Source Beutler Lab
Gene Symbol Catsper1
Ensembl Gene ENSMUSG00000038498
Gene Name cation channel, sperm associated 1
Synonyms KSper
MMRRC Submission 042427-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R4808 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5385769-5394308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5394164 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91ZR5
Predicted Effect probably benign
Transcript: ENSMUST00000025764
SMART Domains Protein: ENSMUSP00000025764
Gene: ENSMUSG00000024846

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CY 33 147 2.36e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000043380
AA Change: D682N

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045430
Gene: ENSMUSG00000038498
AA Change: D682N

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (71/72)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abi3bp A G 16: 56,414,879 (GRCm39) D347G probably damaging Het
Adora2a A G 10: 75,169,280 (GRCm39) N248S probably damaging Het
Agap3 T C 5: 24,706,243 (GRCm39) F836L probably benign Het
Arap2 G A 5: 62,887,984 (GRCm39) T454M probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atm A G 9: 53,356,795 (GRCm39) S2819P probably damaging Het
Atp8b1 A G 18: 64,694,782 (GRCm39) F500S probably benign Het
Chordc1 A G 9: 18,203,709 (GRCm39) Y6C probably damaging Het
Cped1 A G 6: 22,088,756 (GRCm39) K273R probably damaging Het
Crat T C 2: 30,300,033 (GRCm39) I116V probably benign Het
Cyp26a1 A G 19: 37,689,573 (GRCm39) H423R probably benign Het
Cyp4f40 A G 17: 32,893,249 (GRCm39) E360G probably benign Het
D430041D05Rik A C 2: 104,031,455 (GRCm39) probably null Het
Eif3i A T 4: 129,485,857 (GRCm39) F323I probably benign Het
Fam53a A G 5: 33,765,023 (GRCm39) S228P probably damaging Het
Gm10305 C T 4: 99,161,481 (GRCm39) noncoding transcript Het
Gm7347 C T 5: 26,259,995 (GRCm39) R185H probably benign Het
Golga2 G T 2: 32,193,226 (GRCm39) A441S probably benign Het
Gphn T A 12: 78,701,654 (GRCm39) S608T probably benign Het
Gramd1b A T 9: 40,215,645 (GRCm39) V620E possibly damaging Het
H2bc18 T G 3: 96,177,329 (GRCm39) S88A probably benign Het
H2-M9 T C 17: 36,951,684 (GRCm39) T264A probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd3b6 G A 3: 98,713,601 (GRCm39) H233Y probably damaging Het
Ighv6-7 T A 12: 114,419,341 (GRCm39) R88* probably null Het
Jup C T 11: 100,269,018 (GRCm39) R465H probably damaging Het
Kif16b A T 2: 142,699,278 (GRCm39) Y101N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Myocos T C 1: 162,484,609 (GRCm39) probably benign Het
Nav1 C T 1: 135,382,942 (GRCm39) G1197S probably damaging Het
Oas1g T G 5: 121,017,385 (GRCm39) K223T possibly damaging Het
Oprd1 G A 4: 131,844,705 (GRCm39) T101M probably damaging Het
Or14c40 A G 7: 86,313,146 (GRCm39) D92G probably benign Het
Or51g2 T C 7: 102,623,118 (GRCm39) H27R probably damaging Het
Pcdha7 G A 18: 37,107,281 (GRCm39) C102Y probably damaging Het
Pcx T A 19: 4,670,956 (GRCm39) S1086T probably benign Het
Pde8a A G 7: 80,932,679 (GRCm39) T114A probably benign Het
Pias4 A G 10: 80,991,674 (GRCm39) probably null Het
Pkn3 G A 2: 29,980,093 (GRCm39) G750E probably damaging Het
Pramel5 G A 4: 143,999,325 (GRCm39) A254V probably benign Het
Ptprq A G 10: 107,554,368 (GRCm39) L119P probably damaging Het
Rasgrf2 A T 13: 92,160,190 (GRCm39) L395Q probably damaging Het
Rbm19 T C 5: 120,256,839 (GRCm39) S51P probably damaging Het
Rfx5 A G 3: 94,865,591 (GRCm39) T297A probably benign Het
Scaf1 T C 7: 44,658,063 (GRCm39) E272G probably damaging Het
Slc24a2 G T 4: 86,950,475 (GRCm39) Q396K probably benign Het
Slc39a14 T C 14: 70,553,250 (GRCm39) I162V probably damaging Het
Snap25 A G 2: 136,612,022 (GRCm39) D70G probably damaging Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Sppl3 T A 5: 115,221,485 (GRCm39) probably benign Het
Sspo A G 6: 48,428,095 (GRCm39) D314G probably damaging Het
Steap1 G T 5: 5,788,829 (GRCm39) probably benign Het
Suox T A 10: 128,507,758 (GRCm39) D90V possibly damaging Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tektl1 A T 10: 78,588,698 (GRCm39) D37E probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Uap1l1 A G 2: 25,252,097 (GRCm39) S473P probably damaging Het
Xpo5 T A 17: 46,546,896 (GRCm39) N882K probably benign Het
Zfp536 A T 7: 37,178,730 (GRCm39) C228S probably damaging 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
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
R5077:Catsper1 UTSW 19 5,385,998 (GRCm39) missense probably damaging 0.99
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'- GTTCCCAAGCGTACGTCATC -3'
(R):5'- CGGCACACTATTCGATTGC -3'

Sequencing Primer
(F):5'- CCAAGCGTACGTCATCGATGAG -3'
(R):5'- TGCTTCAGGCTAGCCAGTAAG -3'
Posted On 2016-02-04