Incidental Mutation 'R8974:Catsperd'
ID 683344
Institutional Source Beutler Lab
Gene Symbol Catsperd
Ensembl Gene ENSMUSG00000040828
Gene Name cation channel sperm associated auxiliary subunit delta
Synonyms 4933402B14Rik, Gm6095, 4921529N20Rik, Tmem146
MMRRC Submission 068808-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R8974 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56935143-56971456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56959525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 322 (T322A)
Ref Sequence ENSEMBL: ENSMUSP00000108603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112979]
AlphaFold E9Q9F6
Predicted Effect possibly damaging
Transcript: ENSMUST00000112979
AA Change: T322A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
AA Change: T322A

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:CATSPERD 38 766 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a deletion in this gene display male infertility. Hyperactivity of sperm fails to develop under capacitating conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 A G 17: 13,143,716 (GRCm39) V342A probably damaging Het
Acot4 T C 12: 84,090,515 (GRCm39) F404S probably benign Het
Alpk1 T C 3: 127,473,580 (GRCm39) T808A probably benign Het
Apba3 T C 10: 81,109,032 (GRCm39) V154A Het
Arhgap27 A T 11: 103,224,756 (GRCm39) F476I possibly damaging Het
Asah2 A T 19: 32,030,305 (GRCm39) D122E probably benign Het
Asb10 T C 5: 24,745,209 (GRCm39) I47V probably benign Het
Ccdc142 T C 6: 83,078,963 (GRCm39) V100A probably benign Het
Cdc5l A T 17: 45,715,621 (GRCm39) C664S possibly damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cep89 A G 7: 35,097,493 (GRCm39) S40G probably damaging Het
Csmd2 A G 4: 128,446,380 (GRCm39) K3315R Het
Cyp2d34 T C 15: 82,500,537 (GRCm39) E434G probably damaging Het
Degs1 A G 1: 182,107,278 (GRCm39) Y30H probably benign Het
Eps8l1 A G 7: 4,474,817 (GRCm39) D266G probably damaging Het
Fam168a A T 7: 100,484,611 (GRCm39) T234S probably benign Het
Fzd3 G T 14: 65,472,440 (GRCm39) Q443K possibly damaging Het
Galnt7 A G 8: 58,105,934 (GRCm39) S27P Het
Gpr162 T C 6: 124,837,876 (GRCm39) D258G probably damaging Het
Hdac2 A G 10: 36,862,340 (GRCm39) Y68C probably damaging Het
Lmbr1l A G 15: 98,810,408 (GRCm39) C68R probably damaging Het
Loxhd1 A G 18: 77,518,899 (GRCm39) T1902A possibly damaging Het
Lrrc4c T C 2: 97,459,992 (GRCm39) M206T probably damaging Het
Lrrc75b T C 10: 75,389,848 (GRCm39) T168A probably benign Het
Magi1 A G 6: 93,674,223 (GRCm39) F1003L probably damaging Het
Map1s T C 8: 71,366,994 (GRCm39) L633P probably damaging Het
Mapk11 G A 15: 89,028,014 (GRCm39) T341I probably benign Het
Mycbp2 A T 14: 103,361,857 (GRCm39) V4441D probably damaging Het
Nin T C 12: 70,124,932 (GRCm39) E130G Het
Nod2 T A 8: 89,390,433 (GRCm39) Y247N probably damaging Het
Nudcd3 A T 11: 6,143,163 (GRCm39) V169E probably benign Het
Or2w2 A T 13: 21,758,203 (GRCm39) I141N probably damaging Het
Or51v15-ps1 T C 7: 103,278,489 (GRCm39) Y226C unknown Het
Or6c200-ps1 A C 10: 128,869,905 (GRCm39) C269G probably damaging Het
Pcdh9 A C 14: 94,125,113 (GRCm39) N352K probably benign Het
Pfpl G A 19: 12,405,839 (GRCm39) G30D probably damaging Het
Pi15 A G 1: 17,691,675 (GRCm39) D159G possibly damaging Het
Plxna4 G T 6: 32,216,447 (GRCm39) R543S possibly damaging Het
Ppp1r12c C T 7: 4,486,698 (GRCm39) E543K probably damaging Het
Prkdc T A 16: 15,617,726 (GRCm39) probably null Het
Proca1 T C 11: 78,096,144 (GRCm39) S172P probably damaging Het
Ralgapa1 C A 12: 55,723,791 (GRCm39) M1578I probably benign Het
Rnf103 C A 6: 71,486,092 (GRCm39) A241E probably damaging Het
Rorb T C 19: 18,955,070 (GRCm39) D182G probably benign Het
Ryr3 T C 2: 112,742,624 (GRCm39) K485E possibly damaging Het
Sec24d G A 3: 123,099,498 (GRCm39) D324N probably damaging Het
Serpina3f T A 12: 104,183,642 (GRCm39) I168N probably damaging Het
Sidt1 A T 16: 44,101,980 (GRCm39) *62R probably null Het
Slc22a27 A C 19: 7,903,751 (GRCm39) S129A probably damaging Het
Spata31e1 T C 13: 49,939,556 (GRCm39) D718G probably benign Het
Stab1 A G 14: 30,882,779 (GRCm39) V408A probably benign Het
Svil G T 18: 5,099,650 (GRCm39) G1729W probably damaging Het
Tbx20 A G 9: 24,681,082 (GRCm39) S137P probably damaging Het
Tcstv2c T A 13: 120,616,486 (GRCm39) D108E probably benign Het
Trem2 G A 17: 48,655,599 (GRCm39) R52Q probably damaging Het
Trim55 T C 3: 19,699,603 (GRCm39) S112P probably damaging Het
Vmn1r172 A T 7: 23,359,840 (GRCm39) M242L probably benign Het
Vmn2r91 G A 17: 18,325,636 (GRCm39) A85T probably benign Het
Zc3h3 T C 15: 75,657,452 (GRCm39) T580A probably benign Het
Zfp451 A G 1: 33,816,535 (GRCm39) C472R probably damaging Het
Other mutations in Catsperd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Catsperd APN 17 56,968,271 (GRCm39) missense probably damaging 0.98
IGL02598:Catsperd APN 17 56,954,815 (GRCm39) splice site probably null
IGL03037:Catsperd APN 17 56,948,583 (GRCm39) missense possibly damaging 0.80
IGL03330:Catsperd APN 17 56,939,316 (GRCm39) missense possibly damaging 0.45
R0391:Catsperd UTSW 17 56,969,821 (GRCm39) missense probably benign 0.00
R0463:Catsperd UTSW 17 56,966,554 (GRCm39) missense probably damaging 0.99
R0506:Catsperd UTSW 17 56,965,078 (GRCm39) missense possibly damaging 0.95
R0538:Catsperd UTSW 17 56,969,828 (GRCm39) missense probably benign 0.00
R0550:Catsperd UTSW 17 56,970,427 (GRCm39) critical splice donor site probably null
R1503:Catsperd UTSW 17 56,961,525 (GRCm39) missense possibly damaging 0.63
R1705:Catsperd UTSW 17 56,940,521 (GRCm39) missense probably damaging 0.97
R1919:Catsperd UTSW 17 56,942,548 (GRCm39) missense probably damaging 0.99
R2851:Catsperd UTSW 17 56,967,169 (GRCm39) critical splice acceptor site probably null
R2852:Catsperd UTSW 17 56,967,169 (GRCm39) critical splice acceptor site probably null
R3147:Catsperd UTSW 17 56,971,039 (GRCm39) missense possibly damaging 0.86
R3148:Catsperd UTSW 17 56,971,039 (GRCm39) missense possibly damaging 0.86
R4084:Catsperd UTSW 17 56,961,453 (GRCm39) missense probably benign 0.14
R4329:Catsperd UTSW 17 56,961,517 (GRCm39) missense possibly damaging 0.80
R4940:Catsperd UTSW 17 56,969,736 (GRCm39) missense possibly damaging 0.95
R4944:Catsperd UTSW 17 56,969,744 (GRCm39) missense probably damaging 0.97
R4952:Catsperd UTSW 17 56,939,303 (GRCm39) missense probably damaging 0.99
R5079:Catsperd UTSW 17 56,965,153 (GRCm39) critical splice donor site probably null
R5259:Catsperd UTSW 17 56,967,235 (GRCm39) missense possibly damaging 0.93
R5635:Catsperd UTSW 17 56,939,335 (GRCm39) missense possibly damaging 0.95
R5929:Catsperd UTSW 17 56,959,493 (GRCm39) missense probably benign 0.00
R6789:Catsperd UTSW 17 56,961,426 (GRCm39) splice site probably null
R6909:Catsperd UTSW 17 56,957,781 (GRCm39) missense probably damaging 0.96
R6920:Catsperd UTSW 17 56,962,175 (GRCm39) nonsense probably null
R7099:Catsperd UTSW 17 56,935,811 (GRCm39) splice site probably null
R7106:Catsperd UTSW 17 56,965,070 (GRCm39) splice site probably null
R7371:Catsperd UTSW 17 56,957,801 (GRCm39) missense probably benign 0.22
R7405:Catsperd UTSW 17 56,939,335 (GRCm39) missense possibly damaging 0.95
R7478:Catsperd UTSW 17 56,971,055 (GRCm39) missense probably benign 0.00
R7781:Catsperd UTSW 17 56,971,072 (GRCm39) missense probably benign 0.00
R7918:Catsperd UTSW 17 56,938,564 (GRCm39) missense probably benign 0.06
R7981:Catsperd UTSW 17 56,938,562 (GRCm39) missense possibly damaging 0.85
R8200:Catsperd UTSW 17 56,939,368 (GRCm39) critical splice donor site probably null
R8487:Catsperd UTSW 17 56,970,419 (GRCm39) missense probably damaging 1.00
R9025:Catsperd UTSW 17 56,962,156 (GRCm39) missense probably damaging 0.98
R9179:Catsperd UTSW 17 56,968,252 (GRCm39) missense probably benign 0.00
R9180:Catsperd UTSW 17 56,968,252 (GRCm39) missense probably benign 0.00
R9185:Catsperd UTSW 17 56,968,252 (GRCm39) missense probably benign 0.00
R9200:Catsperd UTSW 17 56,935,229 (GRCm39) missense unknown
R9328:Catsperd UTSW 17 56,965,074 (GRCm39) missense possibly damaging 0.51
R9419:Catsperd UTSW 17 56,958,821 (GRCm39) missense probably benign 0.00
R9443:Catsperd UTSW 17 56,969,720 (GRCm39) missense possibly damaging 0.95
R9575:Catsperd UTSW 17 56,935,231 (GRCm39) missense unknown
R9617:Catsperd UTSW 17 56,968,252 (GRCm39) missense probably benign 0.00
R9663:Catsperd UTSW 17 56,960,751 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CTTATTTCTTGCCAGGGGTAAC -3'
(R):5'- TTACAAGGCCTGTGAGGTGTAG -3'

Sequencing Primer
(F):5'- CGGGATCACCTTCTACTAAATGG -3'
(R):5'- CGGTGGCTAAAATGCTTGCCTAC -3'
Posted On 2021-10-11