Incidental Mutation 'IGL01794:Catsper3'
ID155295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Catsper3
Ensembl Gene ENSMUSG00000021499
Gene Namecation channel, sperm associated 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01794
Quality Score
Status
Chromosome13
Chromosomal Location55784568-55808998 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55798906 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 139 (S139P)
Ref Sequence ENSEMBL: ENSMUSP00000021961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021961] [ENSMUST00000109898]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021961
AA Change: S139P

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: S139P

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 possibly damaging
Transcript: ENSMUST00000109898
AA Change: S126P

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: S126P

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
Coding Region Coverage
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,577,846 I268M probably damaging Het
4930590J08Rik C T 6: 91,918,112 R263* probably null Het
Appl2 A G 10: 83,614,294 V238A probably benign Het
Bcl2l11 T A 2: 128,128,648 S6T probably damaging Het
Bptf A G 11: 107,053,221 probably null Het
Casc4 T A 2: 121,911,926 N206K probably benign Het
Cdh3 A G 8: 106,537,126 N192S possibly damaging Het
Dsc1 A T 18: 20,110,183 I71N probably damaging Het
Fbxw2 A G 2: 34,811,119 probably benign Het
Gad1 G T 2: 70,597,168 V473L probably benign Het
Gtpbp1 C T 15: 79,716,246 T460I probably damaging Het
Krt16 G A 11: 100,247,905 T185I probably benign Het
Mapk1ip1 C T 7: 138,836,697 M1I probably null Het
Nt5e A T 9: 88,367,298 L428F probably damaging Het
Olfr474 A G 7: 107,955,295 Y218C probably damaging Het
Pah G T 10: 87,578,922 V379F possibly damaging Het
Scn7a T C 2: 66,675,509 T1679A probably benign Het
Sdccag8 T A 1: 176,845,307 H293Q possibly damaging Het
Suco A G 1: 161,827,725 M1066T probably benign Het
Trim9 A G 12: 70,281,880 Y369H probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Other mutations in Catsper3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Catsper3 APN 13 55798822 missense possibly damaging 0.94
IGL02419:Catsper3 APN 13 55808068 missense possibly damaging 0.94
IGL03108:Catsper3 APN 13 55808035 missense probably benign 0.01
R0241:Catsper3 UTSW 13 55804854 missense probably damaging 1.00
R0241:Catsper3 UTSW 13 55804854 missense probably damaging 1.00
R1870:Catsper3 UTSW 13 55805748 missense probably damaging 1.00
R2229:Catsper3 UTSW 13 55808054 missense probably damaging 1.00
R3055:Catsper3 UTSW 13 55808896 missense unknown
R3056:Catsper3 UTSW 13 55808896 missense unknown
R4092:Catsper3 UTSW 13 55784671 missense probably benign 0.00
R4113:Catsper3 UTSW 13 55786370 missense probably damaging 0.99
R5197:Catsper3 UTSW 13 55808176 critical splice donor site probably null
R6011:Catsper3 UTSW 13 55786492 missense probably damaging 0.96
R6064:Catsper3 UTSW 13 55806252 missense probably damaging 0.99
R6385:Catsper3 UTSW 13 55786426 missense probably damaging 0.99
R6966:Catsper3 UTSW 13 55798859 missense probably damaging 0.98
R7128:Catsper3 UTSW 13 55798849 missense probably benign 0.00
R7373:Catsper3 UTSW 13 55808132 missense possibly damaging 0.87
R7565:Catsper3 UTSW 13 55784725 missense probably benign 0.10
Z1088:Catsper3 UTSW 13 55808104 missense probably damaging 0.99
Posted On2014-02-04