Incidental Mutation 'R1540:Catsperb'
ID 171680
Institutional Source Beutler Lab
Gene Symbol Catsperb
Ensembl Gene ENSMUSG00000047014
Gene Name cation channel sperm associated auxiliary subunit beta
Synonyms 4932415G16Rik
MMRRC Submission 039579-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1540 (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 101378589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 30 (R30Q)
Ref Sequence ENSEMBL: ENSMUSP00000152678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055156] [ENSMUST00000221241]
AlphaFold A2RTF1
Predicted Effect probably benign
Transcript: ENSMUST00000055156
AA Change: R30Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: R30Q

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 noncoding transcript
Transcript: ENSMUST00000220474
Predicted Effect probably benign
Transcript: ENSMUST00000221241
AA Change: R30Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221965
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 96% (72/75)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,574,384 (GRCm39) C767R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap3d1 A T 10: 80,551,775 (GRCm39) I644N probably benign Het
Asb16 A G 11: 102,163,402 (GRCm39) I131V probably benign Het
Atp6v0a2 C A 5: 124,784,638 (GRCm39) A307D probably damaging Het
C1qtnf1 C T 11: 118,338,749 (GRCm39) H140Y probably benign Het
Cacna1g T A 11: 94,347,865 (GRCm39) D741V probably damaging Het
Caprin2 T A 6: 148,777,969 (GRCm39) T211S probably benign Het
Carmil1 T C 13: 24,283,037 (GRCm39) E89G possibly damaging Het
Casz1 T A 4: 149,027,357 (GRCm39) probably benign Het
Ccdc102a A T 8: 95,634,341 (GRCm39) probably null Het
Ccdc110 G T 8: 46,395,362 (GRCm39) E418* probably null Het
Ccdc90b C T 7: 92,231,024 (GRCm39) A210V probably benign Het
Cdadc1 G T 14: 59,823,532 (GRCm39) A320E probably damaging Het
Cdadc1 T A 14: 59,823,541 (GRCm39) Q317L probably damaging Het
Cep170 C A 1: 176,567,498 (GRCm39) W1396L probably damaging Het
Col4a6 T C X: 140,010,854 (GRCm39) T129A probably damaging Het
Ctcfl C T 2: 172,954,141 (GRCm39) D319N probably benign Het
Dclk1 T C 3: 55,385,244 (GRCm39) S45P probably damaging Het
Efcab3 T C 11: 104,999,726 (GRCm39) I5581T probably benign Het
Evi2 T C 11: 79,406,412 (GRCm39) I388V probably benign Het
Fbxl5 A T 5: 43,915,978 (GRCm39) V435E possibly damaging Het
Fig4 A T 10: 41,064,582 (GRCm39) M887K possibly damaging Het
Glt8d1 G A 14: 30,733,549 (GRCm39) V345I probably benign Het
Gm5709 T C 3: 59,526,073 (GRCm39) noncoding transcript Het
Hsp90b1 A G 10: 86,529,906 (GRCm39) F264L probably damaging Het
Id3 A G 4: 135,871,250 (GRCm39) S21G possibly damaging Het
Ighe T A 12: 113,235,066 (GRCm39) N365Y unknown Het
Il17rd T G 14: 26,821,915 (GRCm39) M403R probably damaging Het
Ints10 A G 8: 69,249,365 (GRCm39) probably benign Het
Kcnc4 T A 3: 107,352,743 (GRCm39) probably null Het
Kctd19 A G 8: 106,114,511 (GRCm39) S517P probably damaging Het
Lama5 A G 2: 179,821,944 (GRCm39) F2964L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lrrc8e A G 8: 4,284,990 (GRCm39) K405R probably benign Het
Lyst T A 13: 13,809,686 (GRCm39) M452K possibly damaging Het
Mroh7 A G 4: 106,560,273 (GRCm39) L677P probably benign Het
Mrps27 T A 13: 99,541,558 (GRCm39) F221I probably benign Het
Nhlrc1 C T 13: 47,167,820 (GRCm39) V146M probably damaging Het
Nlrp9b T A 7: 19,782,772 (GRCm39) C895* probably null Het
Nod1 T C 6: 54,920,960 (GRCm39) T453A probably benign Het
Nodal T C 10: 61,258,764 (GRCm39) V67A probably damaging Het
Ntsr1 T C 2: 180,184,440 (GRCm39) L381P probably damaging Het
Or13c25 T C 4: 52,910,996 (GRCm39) D266G probably benign Het
Or2b2b T A 13: 21,858,700 (GRCm39) Q138L probably benign Het
Or9e1 T A 11: 58,732,477 (GRCm39) M179K probably benign Het
P2ry14 T A 3: 59,022,686 (GRCm39) K267M probably benign Het
Pcdh1 T C 18: 38,322,779 (GRCm39) N1018S probably benign Het
Pkn3 G A 2: 29,974,703 (GRCm39) V406I probably damaging Het
Prkcb C T 7: 122,226,916 (GRCm39) T634I probably damaging Het
Psme2b T A 11: 48,836,209 (GRCm39) probably null Het
Ptgfrn A G 3: 100,967,970 (GRCm39) I541T probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapb T C 2: 158,307,746 (GRCm39) V684A probably benign Het
Rbbp5 C T 1: 132,422,020 (GRCm39) R307* probably null Het
Rcor1 T A 12: 111,070,037 (GRCm39) probably benign Het
Rlbp1 C T 7: 79,029,808 (GRCm39) A142T probably damaging Het
Rps6ka2 A G 17: 7,560,305 (GRCm39) E581G probably null Het
Sars1 A T 3: 108,340,461 (GRCm39) V155E probably benign Het
Sec31a G C 5: 100,523,178 (GRCm39) P569A probably damaging Het
Selenof A T 3: 144,300,685 (GRCm39) K111* probably null Het
Serpinb7 C T 1: 107,355,998 (GRCm39) A7V possibly damaging Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Snrpa1 T A 7: 65,720,409 (GRCm39) I204N probably damaging Het
Spry4 T G 18: 38,734,740 (GRCm39) probably benign Het
Tcea2 A G 2: 181,328,751 (GRCm39) N261S possibly damaging Het
Tmem59l A G 8: 70,937,804 (GRCm39) F192S probably benign Het
Tnr T A 1: 159,677,675 (GRCm39) I20N probably damaging Het
Ttll5 C T 12: 85,938,982 (GRCm39) Q427* probably null Het
Vps45 C T 3: 95,955,658 (GRCm39) A111T probably damaging Het
Zfp395 T C 14: 65,630,523 (GRCm39) S358P probably benign Het
Zfp438 A G 18: 5,210,740 (GRCm39) V766A probably benign 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
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
R4651: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'- GCCCAAGAAGTTGTTCCTGACTCC -3'
(R):5'- ATGGCTACCCAGGTTGCTCAATG -3'

Sequencing Primer
(F):5'- ttctgactattgatcctccttcc -3'
(R):5'- CCCAGGTTGCTCAATGCTAAATG -3'
Posted On 2014-04-13