Incidental Mutation 'R4329:Catsperd'
ID 324548
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 041663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4329 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56935143-56971456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56961517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 413 (I413K)
Ref Sequence ENSEMBL: ENSMUSP00000108603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112979]
AlphaFold E9Q9F6
Predicted Effect possibly damaging
Transcript: ENSMUST00000112979
AA Change: I413K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
AA Change: I413K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:CATSPERD 38 766 N/A PFAM
Meta Mutation Damage Score 0.7398 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 96% (68/71)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C A 5: 113,243,455 (GRCm39) probably null Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Ampd2 C A 3: 107,985,103 (GRCm39) probably benign Het
Ang2 A T 14: 51,433,325 (GRCm39) I19N possibly damaging Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
Cacna1s A C 1: 136,046,771 (GRCm39) D1819A probably benign Het
Cand2 C A 6: 115,776,949 (GRCm39) H1112Q possibly damaging Het
Ccdc142 T A 6: 83,083,997 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Celsr3 C T 9: 108,723,248 (GRCm39) R2847C probably benign Het
Cep290 C T 10: 100,373,530 (GRCm39) S1270L probably damaging Het
Chka T C 19: 3,925,803 (GRCm39) probably benign Het
Cntnap5b T A 1: 99,999,888 (GRCm39) D215E probably damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Cspg4 T C 9: 56,799,749 (GRCm39) F1539L probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Dchs1 A T 7: 105,402,966 (GRCm39) I3192N probably damaging Het
Dnah7c T A 1: 46,688,441 (GRCm39) D1870E probably benign Het
Drc1 A T 5: 30,513,002 (GRCm39) I359L probably benign Het
Esp1 A G 17: 41,039,768 (GRCm39) M18V probably benign Het
Exoc1 T A 5: 76,715,822 (GRCm39) F789L probably damaging Het
Fbxw22 T A 9: 109,213,111 (GRCm39) T279S probably damaging Het
Frem1 G A 4: 82,904,774 (GRCm39) A880V probably benign Het
Gm29514 A G 1: 146,296,429 (GRCm39) noncoding transcript Het
Grm7 T C 6: 110,891,325 (GRCm39) L186P probably damaging Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Klk4 A G 7: 43,533,830 (GRCm39) D202G probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,861 (GRCm39) Y808N probably damaging Het
Myom1 C T 17: 71,343,348 (GRCm39) L182F probably damaging Het
Nova1 A T 12: 46,767,615 (GRCm39) I102N unknown Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Patl2 C T 2: 121,958,018 (GRCm39) S80N probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pkmyt1 T A 17: 23,951,709 (GRCm39) Y88N probably damaging Het
Pnkp T C 7: 44,508,018 (GRCm39) S114P probably benign Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Sema4d T C 13: 51,857,340 (GRCm39) R631G probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Skint9 A C 4: 112,249,062 (GRCm39) L122R probably damaging Het
Slc16a13 T C 11: 70,108,723 (GRCm39) N369S probably benign Het
Strada A G 11: 106,077,999 (GRCm39) probably benign Het
Tnxb C A 17: 34,912,838 (GRCm39) S1784Y probably damaging Het
Trpc2 T C 7: 101,736,727 (GRCm39) V318A probably damaging Het
Ttc3 G A 16: 94,267,820 (GRCm39) R1589H probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Unc5b A G 10: 60,618,969 (GRCm39) Y58H probably damaging Het
Xylt1 G A 7: 117,255,684 (GRCm39) G752D probably damaging Het
Yipf7 A T 5: 69,678,465 (GRCm39) L55Q probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign 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
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
R8974:Catsperd UTSW 17 56,959,525 (GRCm39) missense possibly damaging 0.45
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'- TGTCCTTTGCTTCAGGAGAC -3'
(R):5'- ATGCTGGAAGAACCCTGAC -3'

Sequencing Primer
(F):5'- AGACTGGGCTGGGGAAC -3'
(R):5'- TAGCCTGTGGGGCAGAAAGAT -3'
Posted On 2015-06-24