Incidental Mutation 'R9086:Catsper2'
ID 690580
Institutional Source Beutler Lab
Gene Symbol Catsper2
Ensembl Gene ENSMUSG00000033486
Gene Name cation channel, sperm associated 2
Synonyms
MMRRC Submission 068905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R9086 (G1)
Quality Score 123.457
Status Not validated
Chromosome 2
Chromosomal Location 121223112-121244273 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT to TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT at 121228053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038073] [ENSMUST00000154604]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000038073
SMART Domains Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486

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 probably benign
Transcript: ENSMUST00000154604
SMART Domains Protein: ENSMUSP00000119091
Gene: ENSMUSG00000033486

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 109,992,879 (GRCm39) E1595G probably damaging Het
Ank1 T C 8: 23,589,636 (GRCm39) V608A probably damaging Het
Arl14epl T C 18: 47,065,661 (GRCm39) V142A possibly damaging Het
Atp8a1 T C 5: 67,932,159 (GRCm39) D210G Het
Baz1b T C 5: 135,260,538 (GRCm39) F1112L probably damaging Het
Cage1 T A 13: 38,206,898 (GRCm39) I316F probably damaging Het
Car2 A C 3: 14,952,968 (GRCm39) T37P probably benign Het
Cntnap3 T A 13: 64,929,573 (GRCm39) D542V probably damaging Het
Coro1b T C 19: 4,202,525 (GRCm39) Y338H probably damaging Het
Ctdspl2 G A 2: 121,838,298 (GRCm39) probably null Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dpm2 T C 2: 32,462,391 (GRCm39) L59P probably damaging Het
Duoxa2 A G 2: 122,131,821 (GRCm39) Y170C probably damaging Het
Dus2 T A 8: 106,742,573 (GRCm39) Y34* probably null Het
Dzip3 A G 16: 48,781,493 (GRCm39) I266T possibly damaging Het
Ebf3 T C 7: 136,800,994 (GRCm39) T455A possibly damaging Het
Echdc2 C T 4: 108,027,076 (GRCm39) Q74* probably null Het
Efhc1 T C 1: 21,025,592 (GRCm39) Y33H probably damaging Het
Fam20a A T 11: 109,566,754 (GRCm39) C378* probably null Het
Fbxo25 C A 8: 13,989,621 (GRCm39) P356Q probably damaging Het
Fig4 G T 10: 41,161,399 (GRCm39) T59K possibly damaging Het
Gbp10 T A 5: 105,366,369 (GRCm39) M512L probably benign Het
Gdf10 T A 14: 33,654,221 (GRCm39) Y243N probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
H1f9 A T 11: 94,859,083 (GRCm39) K126M possibly damaging Het
Ints1 A T 5: 139,743,947 (GRCm39) H1540Q probably benign Het
Lipo3 A T 19: 33,534,529 (GRCm39) L310Q probably benign Het
Lrrk2 A G 15: 91,640,051 (GRCm39) K1532R probably benign Het
Ltc4s T C 11: 50,128,074 (GRCm39) Y59C probably damaging Het
Macf1 T A 4: 123,377,944 (GRCm39) H1427L probably damaging Het
Mroh2b A G 15: 4,982,754 (GRCm39) probably null Het
Mthfd1l A T 10: 3,923,412 (GRCm39) D53V probably benign Het
Muc4 C A 16: 32,577,842 (GRCm39) P303Q Het
Nrxn1 A G 17: 90,469,792 (GRCm39) F1293S probably damaging Het
Nrxn2 G A 19: 6,540,108 (GRCm39) E803K probably damaging Het
Nup155 A G 15: 8,177,830 (GRCm39) D1071G possibly damaging Het
Or1l4b T A 2: 37,036,426 (GRCm39) D67E probably damaging Het
Or2ag18 A T 7: 106,405,126 (GRCm39) I181N probably benign Het
Or2ak6 T A 11: 58,592,955 (GRCm39) S143T possibly damaging Het
Papln A G 12: 83,821,633 (GRCm39) E287G probably damaging Het
Pex13 C A 11: 23,615,760 (GRCm39) G29C probably damaging Het
Phrf1 C A 7: 140,839,412 (GRCm39) T869K unknown Het
Pitrm1 A G 13: 6,627,517 (GRCm39) T912A probably benign Het
Pla2g4c A G 7: 13,071,692 (GRCm39) K171E probably benign Het
Pnpla7 A T 2: 24,929,709 (GRCm39) T833S probably damaging Het
Por G T 5: 135,744,918 (GRCm39) probably null Het
Rab3ip G A 10: 116,775,310 (GRCm39) S16L probably damaging Het
Rabgef1 A T 5: 130,240,792 (GRCm39) I304F probably benign Het
Rbbp8 T C 18: 11,875,736 (GRCm39) V883A possibly damaging Het
Rnase4 A G 14: 51,342,429 (GRCm39) D51G possibly damaging Het
Rnf13 A C 3: 57,740,997 (GRCm39) D291A probably benign Het
Rps6kb2 A T 19: 4,209,270 (GRCm39) I191N probably damaging Het
Scn1a A G 2: 66,181,358 (GRCm39) L55S probably benign Het
Son T A 16: 91,467,418 (GRCm39) F2260I unknown Het
Spata31h1 C T 10: 82,124,577 (GRCm39) S2811N probably benign Het
Ssr1 A G 13: 38,167,449 (GRCm39) I238T probably benign Het
Stk11ip A G 1: 75,506,818 (GRCm39) E633G possibly damaging Het
Svs3a A G 2: 164,132,062 (GRCm39) Y211C probably benign Het
Sytl1 T A 4: 132,988,175 (GRCm39) E60D possibly damaging Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tlr1 T C 5: 65,083,198 (GRCm39) I460V probably damaging Het
Tmem64 T C 4: 15,266,718 (GRCm39) I256T probably damaging Het
Ttll5 G A 12: 85,964,516 (GRCm39) A553T possibly damaging Het
Ttll5 A T 12: 86,071,107 (GRCm39) T1327S probably benign Het
Upp2 T A 2: 58,680,177 (GRCm39) C334* probably null Het
Wdr74 C A 19: 8,713,358 (GRCm39) N24K possibly damaging Het
Zbtb42 G A 12: 112,645,848 (GRCm39) V8I probably benign Het
Zfp541 T A 7: 15,824,329 (GRCm39) L1078Q probably damaging Het
Zfr2 T C 10: 81,076,029 (GRCm39) V212A probably damaging Het
Other mutations in Catsper2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Catsper2 APN 2 121,228,373 (GRCm39) splice site probably benign
IGL01830:Catsper2 APN 2 121,237,843 (GRCm39) missense probably damaging 1.00
IGL03243:Catsper2 APN 2 121,237,300 (GRCm39) missense probably benign 0.08
IGL03247:Catsper2 APN 2 121,240,681 (GRCm39) missense probably benign 0.03
IGL03342:Catsper2 APN 2 121,237,217 (GRCm39) missense probably damaging 0.99
FR4304:Catsper2 UTSW 2 121,228,263 (GRCm39) utr 3 prime probably benign
FR4304:Catsper2 UTSW 2 121,228,023 (GRCm39) nonsense probably null
FR4342:Catsper2 UTSW 2 121,228,274 (GRCm39) utr 3 prime probably benign
FR4589:Catsper2 UTSW 2 121,228,260 (GRCm39) utr 3 prime probably benign
FR4737:Catsper2 UTSW 2 121,228,021 (GRCm39) utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121,228,263 (GRCm39) utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121,228,260 (GRCm39) utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121,228,023 (GRCm39) utr 3 prime probably benign
FR4976:Catsper2 UTSW 2 121,228,276 (GRCm39) utr 3 prime probably benign
R1463:Catsper2 UTSW 2 121,236,927 (GRCm39) missense probably damaging 1.00
R1686:Catsper2 UTSW 2 121,230,523 (GRCm39) critical splice donor site probably null
R2006:Catsper2 UTSW 2 121,236,838 (GRCm39) nonsense probably null
R2163:Catsper2 UTSW 2 121,230,656 (GRCm39) missense probably damaging 1.00
R4543:Catsper2 UTSW 2 121,237,890 (GRCm39) nonsense probably null
R4888:Catsper2 UTSW 2 121,227,604 (GRCm39) splice site probably null
R5121:Catsper2 UTSW 2 121,227,604 (GRCm39) splice site probably null
R5323:Catsper2 UTSW 2 121,237,216 (GRCm39) missense probably damaging 1.00
R5518:Catsper2 UTSW 2 121,236,844 (GRCm39) missense possibly damaging 0.69
R5605:Catsper2 UTSW 2 121,227,533 (GRCm39) missense possibly damaging 0.91
R6521:Catsper2 UTSW 2 121,237,288 (GRCm39) missense probably damaging 1.00
R6531:Catsper2 UTSW 2 121,230,261 (GRCm39) missense possibly damaging 0.67
R7055:Catsper2 UTSW 2 121,228,053 (GRCm39) utr 3 prime probably benign
R7138:Catsper2 UTSW 2 121,227,544 (GRCm39) missense possibly damaging 0.85
R7240:Catsper2 UTSW 2 121,228,053 (GRCm39) utr 3 prime probably benign
R7247:Catsper2 UTSW 2 121,228,053 (GRCm39) utr 3 prime probably benign
R7686:Catsper2 UTSW 2 121,227,937 (GRCm39) splice site probably null
R8385:Catsper2 UTSW 2 121,240,621 (GRCm39) missense possibly damaging 0.46
R8426:Catsper2 UTSW 2 121,228,053 (GRCm39) utr 3 prime probably benign
R9584:Catsper2 UTSW 2 121,230,301 (GRCm39) missense probably damaging 0.99
R9616:Catsper2 UTSW 2 121,228,053 (GRCm39) utr 3 prime probably benign
R9646:Catsper2 UTSW 2 121,228,053 (GRCm39) utr 3 prime probably benign
R9708:Catsper2 UTSW 2 121,237,321 (GRCm39) missense possibly damaging 0.46
RF028:Catsper2 UTSW 2 121,228,207 (GRCm39) utr 3 prime probably benign
Z1176:Catsper2 UTSW 2 121,237,866 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTTTAAAATCATCCTGGGCCAC -3'
(R):5'- CGATGCTACTGAAAGCGATG -3'

Sequencing Primer
(F):5'- CAAAACAATGACTGTGGGTCTC -3'
(R):5'- CTACTGAAAGCGATGGCGAG -3'
Posted On 2021-12-30