Incidental Mutation 'R4651:Catsperb'
ID 351319
Institutional Source Beutler Lab
Gene Symbol Catsperb
Ensembl Gene ENSMUSG00000047014
Gene Name cation channel sperm associated auxiliary subunit beta
Synonyms 4932415G16Rik
MMRRC Submission 041911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4651 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 101370912-101592268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101507771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 513 (A513T)
Ref Sequence ENSEMBL: ENSMUSP00000052089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055156] [ENSMUST00000221241]
AlphaFold A2RTF1
Predicted Effect probably benign
Transcript: ENSMUST00000055156
AA Change: A513T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: A513T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Pfam:CATSPERB 569 1088 1.1e-258 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220820
Predicted Effect probably benign
Transcript: ENSMUST00000221241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221965
Meta Mutation Damage Score 0.1198 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (98/101)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Ahnak2 T G 12: 112,741,271 (GRCm39) S128R possibly damaging Het
Ankrd26 T C 6: 118,492,787 (GRCm39) D1319G probably benign Het
Ankrd35 T C 3: 96,591,343 (GRCm39) V543A probably benign Het
Ano10 A T 9: 122,090,181 (GRCm39) Y377* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp10b G A 11: 43,085,472 (GRCm39) G284S probably damaging Het
Atp5f1c A G 2: 10,068,287 (GRCm39) F180S probably damaging Het
Btnl4 A G 17: 34,691,602 (GRCm39) S296P probably benign Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccnf C A 17: 24,450,760 (GRCm39) R406L probably damaging Het
Ceacam12 A G 7: 17,801,359 (GRCm39) T113A probably damaging Het
Cipc T C 12: 87,008,864 (GRCm39) V241A probably benign Het
Col12a1 A T 9: 79,520,228 (GRCm39) D2815E probably damaging Het
Cpox G T 16: 58,491,050 (GRCm39) R87L possibly damaging Het
Cttnbp2 A G 6: 18,434,037 (GRCm39) I607T possibly damaging Het
Cux1 A T 5: 136,596,083 (GRCm39) N4K probably damaging Het
Cyp3a25 T C 5: 145,931,701 (GRCm39) T136A probably benign Het
Dhx58 T A 11: 100,592,185 (GRCm39) N288Y probably damaging Het
Dnah10 T C 5: 124,806,207 (GRCm39) Y127H probably benign Het
Dnd1 G A 18: 36,898,114 (GRCm39) probably benign Het
Ehmt2 C A 17: 35,132,790 (GRCm39) N1171K probably damaging Het
Fanci T A 7: 79,085,004 (GRCm39) M838K possibly damaging Het
Flot1 T C 17: 36,143,436 (GRCm39) probably benign Het
Gad2 A T 2: 22,558,374 (GRCm39) D364V probably damaging Het
Gm10375 C A 14: 43,844,326 (GRCm39) probably null Het
Gm9996 T A 10: 29,019,754 (GRCm39) probably benign Het
Gnat3 T A 5: 18,220,568 (GRCm39) L247H probably damaging Het
Ip6k3 C T 17: 27,364,265 (GRCm39) C261Y probably damaging Het
Irgc C A 7: 24,132,238 (GRCm39) R193L probably damaging Het
Kalrn G T 16: 33,996,761 (GRCm39) P1477Q probably damaging Het
Kyat1 G T 2: 30,084,076 (GRCm39) H15N probably benign Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrc9 T C 12: 72,524,160 (GRCm39) W790R probably damaging Het
Lsm2 T A 17: 35,204,571 (GRCm39) probably benign Het
Med8 A T 4: 118,268,089 (GRCm39) E5V probably damaging Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Mettl25b T C 3: 87,834,979 (GRCm39) H107R probably benign Het
Mettl3 T A 14: 52,532,549 (GRCm39) I545F probably damaging Het
Naa20 CTCTAGA C 2: 145,753,752 (GRCm39) probably benign Het
Ncapg2 T A 12: 116,389,407 (GRCm39) N342K probably damaging Het
Ndufaf6 T A 4: 11,062,070 (GRCm39) Y187F probably damaging Het
Nomo1 T A 7: 45,717,866 (GRCm39) I799N probably damaging Het
Obscn G A 11: 58,929,703 (GRCm39) R5824C probably damaging Het
Or4f6 G T 2: 111,838,595 (GRCm39) S312Y probably damaging Het
Or6c214 T C 10: 129,591,287 (GRCm39) I11V probably benign Het
Or6n2 A G 1: 173,897,394 (GRCm39) I177V possibly damaging Het
Or7g30 T A 9: 19,352,591 (GRCm39) C127* probably null Het
Pgm3 T A 9: 86,440,523 (GRCm39) R389S probably benign Het
Pkd2l2 A T 18: 34,542,889 (GRCm39) R20* probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Ppp4r3a T A 12: 101,049,170 (GRCm39) probably benign Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Prrc2c A T 1: 162,550,843 (GRCm39) H40Q probably damaging Het
Ptprk T C 10: 28,139,686 (GRCm39) I137T probably damaging Het
Sdr42e1 T C 8: 118,390,360 (GRCm39) T94A probably benign Het
Setd2 A G 9: 110,423,200 (GRCm39) D2085G possibly damaging Het
Sgce T C 6: 4,689,560 (GRCm39) probably benign Het
Shisa3 A G 5: 67,765,992 (GRCm39) D81G probably damaging Het
Sipa1l1 T A 12: 82,469,245 (GRCm39) L1248* probably null Het
Skint7 T G 4: 111,839,309 (GRCm39) M201R probably damaging Het
Slc5a3 T A 16: 91,874,090 (GRCm39) V49E probably benign Het
Slc9c1 A T 16: 45,367,756 (GRCm39) *163L probably null Het
Smyd3 A G 1: 178,871,306 (GRCm39) Y358H probably benign Het
Srp68 A T 11: 116,164,840 (GRCm39) S31R probably benign Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Strc A T 2: 121,204,829 (GRCm39) D985E possibly damaging Het
Syne2 A G 12: 76,036,013 (GRCm39) T3767A probably damaging Het
Sytl2 C A 7: 90,024,633 (GRCm39) P207Q probably damaging Het
Tbc1d2b A G 9: 90,089,940 (GRCm39) F863S probably damaging Het
Tek T C 4: 94,669,121 (GRCm39) S41P probably damaging Het
Top1 T C 2: 160,554,637 (GRCm39) Y463H probably damaging Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Ttn A G 2: 76,576,979 (GRCm39) V24638A possibly damaging Het
Ttn A G 2: 76,701,213 (GRCm39) probably benign Het
Tyro3 G C 2: 119,647,349 (GRCm39) G826A probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,587 (GRCm39) W410R probably benign Het
Unc45a T C 7: 79,982,777 (GRCm39) K383E possibly damaging Het
Usp7 A C 16: 8,516,278 (GRCm39) probably benign Het
Vmn1r193 C T 13: 22,403,695 (GRCm39) G99D probably damaging Het
Vrk2 T C 11: 26,439,803 (GRCm39) D256G probably damaging Het
Wdr81 A G 11: 75,342,066 (GRCm39) V1067A probably damaging Het
Wiz C T 17: 32,576,655 (GRCm39) R624Q probably damaging Het
Zcwpw2 A G 9: 117,843,119 (GRCm39) noncoding transcript Het
Other mutations in Catsperb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Catsperb APN 12 101,429,378 (GRCm39) missense probably damaging 1.00
IGL00580:Catsperb APN 12 101,557,788 (GRCm39) missense probably benign 0.01
IGL00661:Catsperb APN 12 101,554,357 (GRCm39) missense probably damaging 1.00
IGL00979:Catsperb APN 12 101,381,584 (GRCm39) missense probably benign 0.34
IGL01154:Catsperb APN 12 101,591,940 (GRCm39) missense possibly damaging 0.79
IGL01360:Catsperb APN 12 101,591,513 (GRCm39) missense probably damaging 1.00
IGL01607:Catsperb APN 12 101,446,985 (GRCm39) splice site probably benign
IGL01679:Catsperb APN 12 101,557,841 (GRCm39) splice site probably null
IGL01827:Catsperb APN 12 101,557,799 (GRCm39) missense probably benign 0.00
IGL01866:Catsperb APN 12 101,475,570 (GRCm39) nonsense probably null
IGL02161:Catsperb APN 12 101,375,674 (GRCm39) splice site probably benign
IGL02177:Catsperb APN 12 101,507,721 (GRCm39) missense probably damaging 1.00
IGL02618:Catsperb APN 12 101,446,983 (GRCm39) splice site probably benign
IGL02721:Catsperb APN 12 101,591,556 (GRCm39) missense probably null 1.00
IGL02828:Catsperb APN 12 101,447,041 (GRCm39) missense probably benign 0.00
BB001:Catsperb UTSW 12 101,486,824 (GRCm39) missense probably benign 0.02
BB011:Catsperb UTSW 12 101,486,824 (GRCm39) missense probably benign 0.02
R0571:Catsperb UTSW 12 101,569,033 (GRCm39) missense possibly damaging 0.72
R0727:Catsperb UTSW 12 101,560,614 (GRCm39) splice site probably null
R0842:Catsperb UTSW 12 101,429,307 (GRCm39) missense probably damaging 1.00
R1187:Catsperb UTSW 12 101,591,991 (GRCm39) missense probably benign 0.07
R1432:Catsperb UTSW 12 101,588,476 (GRCm39) missense probably damaging 1.00
R1449:Catsperb UTSW 12 101,554,456 (GRCm39) missense probably benign 0.09
R1488:Catsperb UTSW 12 101,560,526 (GRCm39) missense probably damaging 0.97
R1540:Catsperb UTSW 12 101,378,589 (GRCm39) missense probably benign 0.02
R1560:Catsperb UTSW 12 101,591,985 (GRCm39) missense probably benign 0.01
R1563:Catsperb UTSW 12 101,554,361 (GRCm39) missense probably damaging 1.00
R1583:Catsperb UTSW 12 101,429,373 (GRCm39) missense probably damaging 0.96
R1989:Catsperb UTSW 12 101,568,970 (GRCm39) missense probably damaging 1.00
R1993:Catsperb UTSW 12 101,569,026 (GRCm39) missense possibly damaging 0.86
R1995:Catsperb UTSW 12 101,569,026 (GRCm39) missense possibly damaging 0.86
R2037:Catsperb UTSW 12 101,474,221 (GRCm39) missense probably damaging 1.00
R2186:Catsperb UTSW 12 101,447,041 (GRCm39) missense probably benign 0.00
R2217:Catsperb UTSW 12 101,560,478 (GRCm39) missense probably damaging 0.99
R2391:Catsperb UTSW 12 101,590,965 (GRCm39) missense probably damaging 1.00
R2679:Catsperb UTSW 12 101,429,404 (GRCm39) missense probably damaging 1.00
R3848:Catsperb UTSW 12 101,475,585 (GRCm39) missense probably damaging 0.98
R4023:Catsperb UTSW 12 101,568,942 (GRCm39) nonsense probably null
R4507:Catsperb UTSW 12 101,447,087 (GRCm39) critical splice donor site probably null
R4558:Catsperb UTSW 12 101,557,799 (GRCm39) missense possibly damaging 0.94
R4649:Catsperb UTSW 12 101,507,771 (GRCm39) missense probably benign 0.01
R4866:Catsperb UTSW 12 101,474,208 (GRCm39) missense probably damaging 1.00
R4873:Catsperb UTSW 12 101,554,244 (GRCm39) missense possibly damaging 0.90
R4875:Catsperb UTSW 12 101,554,244 (GRCm39) missense possibly damaging 0.90
R4897:Catsperb UTSW 12 101,569,025 (GRCm39) missense probably damaging 0.98
R5002:Catsperb UTSW 12 101,486,813 (GRCm39) missense probably benign
R5137:Catsperb UTSW 12 101,516,070 (GRCm39) missense probably damaging 0.96
R5396:Catsperb UTSW 12 101,560,543 (GRCm39) missense possibly damaging 0.90
R5450:Catsperb UTSW 12 101,412,327 (GRCm39) missense possibly damaging 0.92
R5484:Catsperb UTSW 12 101,542,175 (GRCm39) missense probably benign 0.38
R5846:Catsperb UTSW 12 101,569,025 (GRCm39) missense probably damaging 0.98
R5905:Catsperb UTSW 12 101,568,959 (GRCm39) missense possibly damaging 0.69
R5906:Catsperb UTSW 12 101,476,721 (GRCm39) missense probably damaging 1.00
R6034:Catsperb UTSW 12 101,542,091 (GRCm39) missense probably benign
R6034:Catsperb UTSW 12 101,542,091 (GRCm39) missense probably benign
R6149:Catsperb UTSW 12 101,516,098 (GRCm39) missense probably damaging 1.00
R6165:Catsperb UTSW 12 101,542,075 (GRCm39) missense possibly damaging 0.90
R6210:Catsperb UTSW 12 101,378,827 (GRCm39) splice site probably null
R6297:Catsperb UTSW 12 101,557,655 (GRCm39) splice site probably null
R6302:Catsperb UTSW 12 101,554,402 (GRCm39) missense possibly damaging 0.95
R6681:Catsperb UTSW 12 101,590,994 (GRCm39) nonsense probably null
R6698:Catsperb UTSW 12 101,475,466 (GRCm39) missense probably damaging 1.00
R6869:Catsperb UTSW 12 101,446,996 (GRCm39) missense probably benign 0.09
R6948:Catsperb UTSW 12 101,447,327 (GRCm39) missense probably benign 0.00
R7035:Catsperb UTSW 12 101,381,593 (GRCm39) missense probably damaging 1.00
R7073:Catsperb UTSW 12 101,475,497 (GRCm39) missense probably benign 0.09
R7100:Catsperb UTSW 12 101,412,297 (GRCm39) missense possibly damaging 0.83
R7338:Catsperb UTSW 12 101,447,243 (GRCm39) missense probably benign 0.08
R7397:Catsperb UTSW 12 101,554,282 (GRCm39) missense possibly damaging 0.84
R7413:Catsperb UTSW 12 101,447,307 (GRCm39) missense probably damaging 1.00
R7422:Catsperb UTSW 12 101,554,293 (GRCm39) missense probably damaging 1.00
R7425:Catsperb UTSW 12 101,557,757 (GRCm39) missense probably damaging 0.96
R7578:Catsperb UTSW 12 101,554,544 (GRCm39) missense probably benign 0.01
R7924:Catsperb UTSW 12 101,486,824 (GRCm39) missense probably benign 0.02
R8021:Catsperb UTSW 12 101,554,322 (GRCm39) missense probably benign 0.22
R8060:Catsperb UTSW 12 101,569,025 (GRCm39) missense probably damaging 0.98
R8167:Catsperb UTSW 12 101,557,714 (GRCm39) missense probably benign 0.00
R8323:Catsperb UTSW 12 101,375,658 (GRCm39) missense probably benign 0.02
R8425:Catsperb UTSW 12 101,569,028 (GRCm39) missense probably benign
R8547:Catsperb UTSW 12 101,412,305 (GRCm39) missense probably damaging 1.00
R8671:Catsperb UTSW 12 101,560,596 (GRCm39) missense possibly damaging 0.70
R8906:Catsperb UTSW 12 101,486,904 (GRCm39) missense possibly damaging 0.92
R9227:Catsperb UTSW 12 101,516,053 (GRCm39) missense probably benign
R9230:Catsperb UTSW 12 101,516,053 (GRCm39) missense probably benign
R9298:Catsperb UTSW 12 101,560,600 (GRCm39) missense possibly damaging 0.91
RF006:Catsperb UTSW 12 101,542,238 (GRCm39) critical splice donor site probably null
Z1177:Catsperb UTSW 12 101,412,307 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTAGTGGTCTCAGAGCCCTAC -3'
(R):5'- CCTCTACTAAAGAATGTTTGTCCTG -3'

Sequencing Primer
(F):5'- CCCACCCCTAATTTAAACAAAATTTC -3'
(R):5'- AGGAGCACACACTTGATCTTTGC -3'
Posted On 2015-10-08