Incidental Mutation 'R2217:Catsperb'
ID 241230
Institutional Source Beutler Lab
Gene Symbol Catsperb
Ensembl Gene ENSMUSG00000047014
Gene Name cation channel sperm associated auxiliary subunit beta
Synonyms 4932415G16Rik
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R2217 (G1)
Quality Score 206
Status Not validated
Chromosome 12
Chromosomal Location 101370912-101592268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101560478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 823 (L823P)
Ref Sequence ENSEMBL: ENSMUSP00000052089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055156] [ENSMUST00000221241]
AlphaFold A2RTF1
Predicted Effect probably damaging
Transcript: ENSMUST00000055156
AA Change: L823P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: L823P

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: ENSMUST00000221241
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging 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
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'- GGCTAGCTTGCTATATGGTTAATAAAC -3'
(R):5'- AGGCGCTGTAGCTAGATTTC -3'

Sequencing Primer
(F):5'- GTTAATAAACCCACCCATTCATAACC -3'
(R):5'- CAAAGTCTGCGTGTCCAATG -3'
Posted On 2014-10-15