Incidental Mutation 'IGL03001:Catsperg2'
ID 407308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Catsperg2
Ensembl Gene ENSMUSG00000049123
Gene Name cation channel sperm associated auxiliary subunit gamma 2
Synonyms CATSPERG, 1700067C01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL03001
Quality Score
Status
Chromosome 7
Chromosomal Location 29396644-29426457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29424504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 95 (S95G)
Ref Sequence ENSEMBL: ENSMUSP00000147099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061193] [ENSMUST00000207115] [ENSMUST00000208607] [ENSMUST00000209126] [ENSMUST00000208371]
AlphaFold C6KI89
Predicted Effect probably benign
Transcript: ENSMUST00000061193
AA Change: S95G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: S95G

DomainStartEndE-ValueType
Pfam:CATSPERG 2 973 N/A PFAM
transmembrane domain 1065 1087 N/A INTRINSIC
low complexity region 1106 1118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208345
Predicted Effect probably benign
Transcript: ENSMUST00000208607
AA Change: S95G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000209126
AA Change: S95G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000208371
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,761,042 (GRCm39) D1918A probably damaging Het
Ahcy C A 2: 154,906,748 (GRCm39) D182Y probably damaging Het
Aldob T G 4: 49,542,844 (GRCm39) D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 (GRCm39) M53L probably benign Het
Aqr T C 2: 113,977,400 (GRCm39) D363G probably benign Het
Asxl3 A G 18: 22,650,455 (GRCm39) R815G probably damaging Het
Atf4 T A 15: 80,140,858 (GRCm39) W83R probably damaging Het
Baz1a A T 12: 54,969,896 (GRCm39) M587K possibly damaging Het
Btbd8 T C 5: 107,645,708 (GRCm39) I9T probably damaging Het
Cactin T A 10: 81,161,568 (GRCm39) I700N probably damaging Het
Cd1d1 C T 3: 86,905,468 (GRCm39) S175N probably benign Het
Chd4 C A 6: 125,078,529 (GRCm39) A217E possibly damaging Het
Cnbd2 T C 2: 156,175,554 (GRCm39) probably null Het
Cntnap5c G A 17: 58,362,634 (GRCm39) C329Y probably damaging Het
Col12a1 C T 9: 79,540,955 (GRCm39) G2391R probably damaging Het
Col5a3 T A 9: 20,719,040 (GRCm39) D238V unknown Het
Cuedc1 T C 11: 88,073,315 (GRCm39) V160A probably benign Het
Depdc5 T C 5: 33,102,434 (GRCm39) V342A possibly damaging Het
Dnah6 T C 6: 73,126,123 (GRCm39) D1338G probably benign Het
Dpyd T C 3: 118,710,891 (GRCm39) V433A probably benign Het
Epb41l5 T C 1: 119,545,374 (GRCm39) H179R probably damaging Het
Fbf1 T C 11: 116,056,712 (GRCm39) probably benign Het
Flnb T C 14: 7,934,680 (GRCm38) S2251P probably damaging Het
Fsip2 A T 2: 82,820,968 (GRCm39) probably benign Het
Grin2b C T 6: 135,716,113 (GRCm39) V735M probably damaging Het
Itpr3 T G 17: 27,308,586 (GRCm39) probably benign Het
Lingo4 C T 3: 94,309,703 (GRCm39) R214C probably damaging Het
Lrp1b C T 2: 40,817,901 (GRCm39) R2329H probably damaging Het
Lrrc47 T C 4: 154,100,450 (GRCm39) L342P probably damaging Het
Mmp15 T C 8: 96,094,845 (GRCm39) S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 (GRCm39) N95K probably benign Het
Nms C T 1: 38,980,993 (GRCm39) P60S probably benign Het
Npas3 A T 12: 53,547,975 (GRCm39) Y77F probably damaging Het
Or2ak7 T G 11: 58,574,702 (GRCm39) M1R probably null Het
Or51f5 G T 7: 102,424,460 (GRCm39) C243F probably damaging Het
Or5d43 T A 2: 88,105,189 (GRCm39) D68V probably damaging Het
Or8d2b A G 9: 38,789,374 (GRCm39) M301V probably benign Het
Or9m2 T A 2: 87,820,493 (GRCm39) Y13N probably benign Het
Or9s27 T A 1: 92,516,273 (GRCm39) S74T probably damaging Het
Picalm T C 7: 89,831,454 (GRCm39) V429A probably benign Het
Pkhd1l1 T A 15: 44,421,400 (GRCm39) I3056N probably damaging Het
Pomt1 G T 2: 32,134,338 (GRCm39) M286I probably benign Het
Popdc2 A T 16: 38,189,881 (GRCm39) Y176F probably benign Het
Psg21 A T 7: 18,386,410 (GRCm39) M192K probably benign Het
Psma1 C A 7: 113,865,674 (GRCm39) A219S probably benign Het
Rad21l T G 2: 151,510,389 (GRCm39) H22P probably damaging Het
Rnf213 A G 11: 119,370,767 (GRCm39) T4791A probably damaging Het
Sdk2 A G 11: 113,712,452 (GRCm39) V1609A probably benign Het
Sema3e T A 5: 14,291,057 (GRCm39) S606T probably benign Het
Slc16a4 A T 3: 107,218,858 (GRCm39) R486S possibly damaging Het
Slc17a3 T C 13: 24,040,767 (GRCm39) L331P probably damaging Het
Slc38a11 A T 2: 65,184,159 (GRCm39) V164D probably damaging Het
Slc38a6 A G 12: 73,383,827 (GRCm39) I173V probably benign Het
Synpo2 T C 3: 122,873,604 (GRCm39) T1121A probably benign Het
Tfcp2 T C 15: 100,426,302 (GRCm39) D83G possibly damaging Het
Thnsl1 A G 2: 21,216,455 (GRCm39) T70A probably damaging Het
Tnfrsf21 A G 17: 43,398,786 (GRCm39) I631V probably damaging Het
Tor2a C A 2: 32,647,329 (GRCm39) H6Q possibly damaging Het
Ttn T C 2: 76,565,267 (GRCm39) N19993S probably benign Het
Vps53 T C 11: 76,029,150 (GRCm39) E119G probably damaging Het
Zkscan6 T C 11: 65,705,495 (GRCm39) W69R probably damaging Het
Zng1 T C 19: 24,900,002 (GRCm39) K301E probably benign Het
Zswim8 T C 14: 20,764,459 (GRCm39) S610P probably damaging Het
Other mutations in Catsperg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Catsperg2 APN 7 29,404,829 (GRCm39) missense possibly damaging 0.86
IGL00095:Catsperg2 APN 7 29,397,483 (GRCm39) missense possibly damaging 0.73
IGL00902:Catsperg2 APN 7 29,400,568 (GRCm39) missense possibly damaging 0.93
IGL01667:Catsperg2 APN 7 29,409,558 (GRCm39) missense probably damaging 0.98
IGL01791:Catsperg2 APN 7 29,404,090 (GRCm39) splice site probably null
IGL01961:Catsperg2 APN 7 29,421,097 (GRCm39) splice site probably benign
IGL02187:Catsperg2 APN 7 29,420,791 (GRCm39) missense probably benign 0.02
IGL02605:Catsperg2 APN 7 29,418,990 (GRCm39) missense possibly damaging 0.71
IGL03228:Catsperg2 APN 7 29,397,650 (GRCm39) missense probably damaging 0.96
IGL03239:Catsperg2 APN 7 29,397,141 (GRCm39) missense probably benign 0.04
IGL03242:Catsperg2 APN 7 29,424,904 (GRCm39) unclassified probably benign
IGL03247:Catsperg2 APN 7 29,416,473 (GRCm39) missense possibly damaging 0.71
IGL03256:Catsperg2 APN 7 29,409,299 (GRCm39) missense probably damaging 0.99
PIT4520001:Catsperg2 UTSW 7 29,409,586 (GRCm39) missense possibly damaging 0.93
R0052:Catsperg2 UTSW 7 29,424,445 (GRCm39) splice site probably benign
R0281:Catsperg2 UTSW 7 29,405,996 (GRCm39) missense possibly damaging 0.86
R0357:Catsperg2 UTSW 7 29,414,326 (GRCm39) missense possibly damaging 0.93
R0480:Catsperg2 UTSW 7 29,420,723 (GRCm39) missense probably damaging 0.98
R0578:Catsperg2 UTSW 7 29,404,116 (GRCm39) missense possibly damaging 0.71
R0732:Catsperg2 UTSW 7 29,400,121 (GRCm39) missense probably damaging 1.00
R0826:Catsperg2 UTSW 7 29,405,049 (GRCm39) missense possibly damaging 0.92
R1535:Catsperg2 UTSW 7 29,397,671 (GRCm39) missense possibly damaging 0.85
R1925:Catsperg2 UTSW 7 29,397,189 (GRCm39) missense probably benign 0.01
R1990:Catsperg2 UTSW 7 29,420,470 (GRCm39) nonsense probably null
R3433:Catsperg2 UTSW 7 29,400,643 (GRCm39) missense possibly damaging 0.71
R3721:Catsperg2 UTSW 7 29,404,527 (GRCm39) missense probably benign 0.02
R4020:Catsperg2 UTSW 7 29,416,429 (GRCm39) missense probably damaging 0.99
R4760:Catsperg2 UTSW 7 29,405,060 (GRCm39) missense probably damaging 0.99
R4829:Catsperg2 UTSW 7 29,400,550 (GRCm39) missense probably damaging 0.98
R5033:Catsperg2 UTSW 7 29,409,559 (GRCm39) missense possibly damaging 0.93
R5093:Catsperg2 UTSW 7 29,416,423 (GRCm39) missense probably benign 0.32
R5266:Catsperg2 UTSW 7 29,416,491 (GRCm39) missense probably damaging 0.98
R5267:Catsperg2 UTSW 7 29,416,491 (GRCm39) missense probably damaging 0.98
R5287:Catsperg2 UTSW 7 29,397,263 (GRCm39) missense possibly damaging 0.96
R5427:Catsperg2 UTSW 7 29,414,275 (GRCm39) missense possibly damaging 0.71
R5575:Catsperg2 UTSW 7 29,405,015 (GRCm39) missense possibly damaging 0.84
R5685:Catsperg2 UTSW 7 29,400,613 (GRCm39) missense probably damaging 1.00
R5844:Catsperg2 UTSW 7 29,397,257 (GRCm39) missense possibly damaging 0.96
R5982:Catsperg2 UTSW 7 29,412,442 (GRCm39) missense possibly damaging 0.51
R6662:Catsperg2 UTSW 7 29,418,938 (GRCm39) start gained probably benign
R6744:Catsperg2 UTSW 7 29,409,244 (GRCm39) missense probably benign 0.23
R7171:Catsperg2 UTSW 7 29,404,750 (GRCm39) missense possibly damaging 0.71
R7239:Catsperg2 UTSW 7 29,409,507 (GRCm39) missense probably benign 0.00
R7336:Catsperg2 UTSW 7 29,406,026 (GRCm39) missense possibly damaging 0.83
R7498:Catsperg2 UTSW 7 29,416,527 (GRCm39) missense possibly damaging 0.71
R7548:Catsperg2 UTSW 7 29,409,251 (GRCm39) missense probably benign 0.32
R7562:Catsperg2 UTSW 7 29,397,144 (GRCm39) missense probably benign 0.18
R7565:Catsperg2 UTSW 7 29,412,406 (GRCm39) missense probably null 0.71
R7600:Catsperg2 UTSW 7 29,404,283 (GRCm39) missense probably benign 0.32
R8460:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8461:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8751:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8752:Catsperg2 UTSW 7 29,404,744 (GRCm39) missense possibly damaging 0.92
R8829:Catsperg2 UTSW 7 29,397,269 (GRCm39) missense probably benign 0.33
R8832:Catsperg2 UTSW 7 29,397,269 (GRCm39) missense probably benign 0.33
R9264:Catsperg2 UTSW 7 29,397,613 (GRCm39) missense possibly damaging 0.72
R9284:Catsperg2 UTSW 7 29,405,006 (GRCm39) critical splice donor site probably null
R9468:Catsperg2 UTSW 7 29,409,432 (GRCm39) critical splice donor site probably null
Z1177:Catsperg2 UTSW 7 29,397,207 (GRCm39) missense possibly damaging 0.96
Posted On 2016-08-02