Incidental Mutation 'R0241:Catsper3'
ID 59510
Institutional Source Beutler Lab
Gene Symbol Catsper3
Ensembl Gene ENSMUSG00000021499
Gene Name cation channel, sperm associated 3
Synonyms 4921522D01Rik
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0241 (G1)
Quality Score 200
Status Validated
Chromosome 13
Chromosomal Location 55932381-55956811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55952667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 175 (M175T)
Ref Sequence ENSEMBL: ENSMUSP00000105524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021961] [ENSMUST00000109898]
AlphaFold Q80W99
Predicted Effect probably damaging
Transcript: ENSMUST00000021961
AA Change: M188T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: M188T

DomainStartEndE-ValueType
Pfam:Ion_trans 49 277 1.8e-33 PFAM
Pfam:PKD_channel 144 273 5e-7 PFAM
coiled coil region 283 311 N/A INTRINSIC
low complexity region 387 395 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109898
AA Change: M175T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: M175T

DomainStartEndE-ValueType
Pfam:Ion_trans 72 254 4.9e-32 PFAM
Pfam:PKD_channel 125 261 2.1e-7 PFAM
coiled coil region 270 298 N/A INTRINSIC
low complexity region 374 382 N/A INTRINSIC
Meta Mutation Damage Score 0.4453 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
MGI Phenotype PHENOTYPE: Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tmc8 C T 11: 117,677,207 (GRCm39) probably benign Het
Tnfrsf19 A G 14: 61,211,041 (GRCm39) S216P possibly damaging Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Catsper3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Catsper3 APN 13 55,946,635 (GRCm39) missense possibly damaging 0.94
IGL01794:Catsper3 APN 13 55,946,719 (GRCm39) missense possibly damaging 0.84
IGL02419:Catsper3 APN 13 55,955,881 (GRCm39) missense possibly damaging 0.94
IGL03108:Catsper3 APN 13 55,955,848 (GRCm39) missense probably benign 0.01
R0241:Catsper3 UTSW 13 55,952,667 (GRCm39) missense probably damaging 1.00
R1870:Catsper3 UTSW 13 55,953,561 (GRCm39) missense probably damaging 1.00
R2229:Catsper3 UTSW 13 55,955,867 (GRCm39) missense probably damaging 1.00
R3055:Catsper3 UTSW 13 55,956,709 (GRCm39) missense unknown
R3056:Catsper3 UTSW 13 55,956,709 (GRCm39) missense unknown
R4092:Catsper3 UTSW 13 55,932,484 (GRCm39) missense probably benign 0.00
R4113:Catsper3 UTSW 13 55,934,183 (GRCm39) missense probably damaging 0.99
R5197:Catsper3 UTSW 13 55,955,989 (GRCm39) critical splice donor site probably null
R6011:Catsper3 UTSW 13 55,934,305 (GRCm39) missense probably damaging 0.96
R6064:Catsper3 UTSW 13 55,954,065 (GRCm39) missense probably damaging 0.99
R6385:Catsper3 UTSW 13 55,934,239 (GRCm39) missense probably damaging 0.99
R6966:Catsper3 UTSW 13 55,946,672 (GRCm39) missense probably damaging 0.98
R7128:Catsper3 UTSW 13 55,946,662 (GRCm39) missense probably benign 0.00
R7373:Catsper3 UTSW 13 55,955,945 (GRCm39) missense possibly damaging 0.87
R7565:Catsper3 UTSW 13 55,932,538 (GRCm39) missense probably benign 0.10
R8712:Catsper3 UTSW 13 55,953,657 (GRCm39) missense probably benign 0.20
R8879:Catsper3 UTSW 13 55,952,708 (GRCm39) missense probably benign 0.01
R9029:Catsper3 UTSW 13 55,954,147 (GRCm39) missense probably damaging 1.00
R9231:Catsper3 UTSW 13 55,946,705 (GRCm39) missense possibly damaging 0.78
R9397:Catsper3 UTSW 13 55,946,725 (GRCm39) missense probably damaging 0.99
R9570:Catsper3 UTSW 13 55,953,669 (GRCm39) critical splice donor site probably null
R9733:Catsper3 UTSW 13 55,946,752 (GRCm39) missense probably damaging 1.00
Z1088:Catsper3 UTSW 13 55,955,917 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCGTGACACAAAATGGATGCCTC -3'
(R):5'- CCACAGGATAAGCACCTGAACGTAG -3'

Sequencing Primer
(F):5'- attcactcattcactcactcattc -3'
(R):5'- AGAGGCTCAGCTTGTACAC -3'
Posted On 2013-07-11