Incidental Mutation 'R5197:Catsper3'
ID 400388
Institutional Source Beutler Lab
Gene Symbol Catsper3
Ensembl Gene ENSMUSG00000021499
Gene Name cation channel, sperm associated 3
Synonyms 4921522D01Rik
MMRRC Submission 042773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5197 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55932381-55956811 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 55955989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021961] [ENSMUST00000109898]
AlphaFold Q80W99
Predicted Effect probably null
Transcript: ENSMUST00000021961
SMART Domains Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499

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 null
Transcript: ENSMUST00000109898
SMART Domains Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499

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 0.9483 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 99% (67/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T C 9: 54,529,866 (GRCm39) E247G possibly damaging Het
Adgra3 A G 5: 50,118,096 (GRCm39) F1151L probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh4a1 A C 4: 139,375,612 (GRCm39) probably benign Het
Anln A T 9: 22,264,077 (GRCm39) probably null Het
Aste1 T C 9: 105,282,253 (GRCm39) S74P probably damaging Het
Atp6v0e2 G A 6: 48,517,051 (GRCm39) R77H probably benign Het
Brpf1 A G 6: 113,296,902 (GRCm39) D962G possibly damaging Het
Btbd2 T C 10: 80,482,253 (GRCm39) D249G probably damaging Het
Cfap43 A G 19: 47,885,811 (GRCm39) L268P probably damaging Het
Cftr T C 6: 18,255,413 (GRCm39) V540A probably benign Het
Col22a1 C T 15: 71,881,255 (GRCm39) G32D probably damaging Het
Col5a2 G T 1: 45,432,241 (GRCm39) P804Q probably benign Het
Cyp2d41-ps A G 15: 82,662,981 (GRCm39) noncoding transcript Het
Cyp39a1 T G 17: 44,057,429 (GRCm39) L423V possibly damaging Het
Elmo1 T G 13: 20,748,607 (GRCm39) V484G probably benign Het
Eps8 C A 6: 137,467,288 (GRCm39) Q656H probably damaging Het
Eps8 T C 6: 137,467,289 (GRCm39) Q656R possibly damaging Het
Fshb T C 2: 106,887,854 (GRCm39) D55G possibly damaging Het
Garin1a G T 6: 29,281,221 (GRCm39) probably benign Het
H3c4 T A 13: 23,760,304 (GRCm39) L110Q probably damaging Het
Herc1 C A 9: 66,355,786 (GRCm39) Q2346K probably damaging Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Ift74 T A 4: 94,550,833 (GRCm39) D328E probably benign Het
Kif21b A T 1: 136,072,363 (GRCm39) K23M probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lipc T A 9: 70,705,673 (GRCm39) E470V probably benign Het
Lrrc4 G T 6: 28,830,142 (GRCm39) T68K probably damaging Het
Lrrc63 T A 14: 75,322,322 (GRCm39) H594L possibly damaging Het
Mfsd14a A T 3: 116,442,150 (GRCm39) probably benign Het
Mob2 T C 7: 141,563,274 (GRCm39) probably null Het
Nckap5 T A 1: 126,150,410 (GRCm39) H105L possibly damaging Het
Ngef C A 1: 87,437,090 (GRCm39) G133* probably null Het
Or14j2 T G 17: 37,886,111 (GRCm39) I68L probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t1 T A 14: 14,328,462 (GRCm38) M117K probably damaging Het
Or52s1 G A 7: 102,861,207 (GRCm39) V47I probably benign Het
Or5b120 G T 19: 13,479,748 (GRCm39) V14F possibly damaging Het
Or5g23 T C 2: 85,438,791 (GRCm39) I154M probably benign Het
Pard3 A G 8: 127,800,040 (GRCm39) probably null Het
Pgm2 C T 5: 64,263,175 (GRCm39) A274V possibly damaging Het
Ppp1r9a T A 6: 5,156,177 (GRCm39) S1144R probably damaging Het
Pramel23 A C 4: 143,424,632 (GRCm39) C270W possibly damaging Het
Prkcq C T 2: 11,304,227 (GRCm39) P590L probably damaging Het
Psmd13 T A 7: 140,474,374 (GRCm39) probably null Het
Rab3gap1 T A 1: 127,816,931 (GRCm39) D63E probably benign Het
Rag2 C A 2: 101,461,085 (GRCm39) T465K probably damaging Het
Rnase6 A G 14: 51,367,670 (GRCm39) M21V unknown Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,653,316 (GRCm39) probably null Het
Sash1 T G 10: 8,615,989 (GRCm39) R624S probably damaging Het
Slc1a2 A G 2: 102,586,460 (GRCm39) I355V probably benign Het
Srrm2 T C 17: 24,036,358 (GRCm39) S1097P probably benign Het
Sugct C T 13: 17,497,861 (GRCm39) A271T probably damaging Het
Tdrd7 T C 4: 46,034,350 (GRCm39) V1065A probably damaging Het
Tmprss6 T A 15: 78,338,389 (GRCm39) Y307F probably damaging Het
Tram1 T C 1: 13,642,126 (GRCm39) N216S probably benign Het
Ttk T C 9: 83,721,394 (GRCm39) V93A probably benign Het
Ubr4 A G 4: 139,195,408 (GRCm39) Y1210C probably damaging Het
Wdr7 A G 18: 63,871,937 (GRCm39) K364E probably benign Het
Xrcc2 G T 5: 25,897,656 (GRCm39) H98N probably benign Het
Zdhhc11 A G 13: 74,113,688 (GRCm39) I77V probably benign Het
Zfp54 C T 17: 21,654,442 (GRCm39) S312L probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably 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
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
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'- TGTTTCCACCTCTAGAAAAGTGG -3'
(R):5'- CCGCCAACTAGCTGACATTG -3'

Sequencing Primer
(F):5'- CCTCTAGAAAAGTGGTAGCATGAAC -3'
(R):5'- CTGTCATTTAACTGGCCCAGGG -3'
Posted On 2016-07-06