Incidental Mutation 'IGL02683:Gsdmc2'
ID 303421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdmc2
Ensembl Gene ENSMUSG00000056293
Gene Name gasdermin C2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02683
Quality Score
Status
Chromosome 15
Chromosomal Location 63696195-63717026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63705261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 151 (V151M)
Ref Sequence ENSEMBL: ENSMUSP00000140487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089900] [ENSMUST00000188404] [ENSMUST00000188691]
AlphaFold Q2KHK6
Predicted Effect probably damaging
Transcript: ENSMUST00000089900
AA Change: V151M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: V151M

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.8e-157 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188404
AA Change: V151M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: V151M

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188691
AA Change: V151M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: V151M

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,779,163 (GRCm39) probably benign Het
Abhd3 A G 18: 10,658,790 (GRCm39) S215P probably damaging Het
Adam20 G A 8: 41,248,621 (GRCm39) V244M probably damaging Het
Akr1c21 A C 13: 4,626,312 (GRCm39) D112A probably damaging Het
Ano6 A T 15: 95,846,193 (GRCm39) Y498F probably damaging Het
Aspscr1 T C 11: 120,592,052 (GRCm39) F263S probably damaging Het
Capn11 A G 17: 45,964,517 (GRCm39) F100S probably damaging Het
Cd63 T C 10: 128,746,299 (GRCm39) C9R probably damaging Het
Cenpj T C 14: 56,790,409 (GRCm39) K547E possibly damaging Het
Clasp1 A G 1: 118,466,996 (GRCm39) D793G probably benign Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Crybg1 A G 10: 43,865,212 (GRCm39) S1422P possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnal1 G A 12: 84,185,128 (GRCm39) G178D probably damaging Het
E2f7 T C 10: 110,618,320 (GRCm39) M795T probably benign Het
Glipr1l2 T C 10: 111,919,381 (GRCm39) V34A probably benign Het
Htr7 T C 19: 35,937,762 (GRCm39) T448A probably benign Het
Kcnj5 T C 9: 32,229,076 (GRCm39) T41A possibly damaging Het
Kcnt1 T C 2: 25,790,937 (GRCm39) M12T possibly damaging Het
Kif1c G A 11: 70,617,278 (GRCm39) A871T possibly damaging Het
Map3k10 T C 7: 27,358,362 (GRCm39) K571R probably damaging Het
Med23 C A 10: 24,746,615 (GRCm39) A45E probably benign Het
Nudt5 C A 2: 5,868,412 (GRCm39) S103R probably damaging Het
Or9m1 T A 2: 87,733,448 (GRCm39) T191S possibly damaging Het
Parp3 A G 9: 106,350,384 (GRCm39) S369P possibly damaging Het
Plxna4 A T 6: 32,494,541 (GRCm39) L25Q probably benign Het
Pon2 A G 6: 5,269,062 (GRCm39) V204A probably damaging Het
Ppfia1 A G 7: 144,067,095 (GRCm39) M463T probably damaging Het
Ppp1r14d T C 2: 119,049,303 (GRCm39) E95G probably damaging Het
Pramel18 T C 4: 101,767,551 (GRCm39) S267P probably benign Het
Prrc2a A G 17: 35,374,969 (GRCm39) V1227A probably benign Het
Rabgap1 T A 2: 37,392,951 (GRCm39) W536R probably damaging Het
Slco6d1 A G 1: 98,408,397 (GRCm39) N431S probably benign Het
Spen C T 4: 141,198,956 (GRCm39) V3224I probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,289,082 (GRCm39) D88G probably damaging Het
Stat5b T G 11: 100,695,772 (GRCm39) K70T probably benign Het
Tex44 A G 1: 86,355,465 (GRCm39) D458G probably benign Het
Tut1 T A 19: 8,942,622 (GRCm39) C570S probably benign Het
Usp42 T C 5: 143,701,101 (GRCm39) E974G possibly damaging Het
Vezf1 A T 11: 87,967,153 (GRCm39) Q310L probably benign Het
Vmn2r83 A T 10: 79,327,115 (GRCm39) R574S probably benign Het
Zfp664 T C 5: 124,963,386 (GRCm39) V260A probably benign Het
Other mutations in Gsdmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Gsdmc2 APN 15 63,700,120 (GRCm39) splice site probably benign
IGL02212:Gsdmc2 APN 15 63,699,911 (GRCm39) splice site probably benign
IGL02394:Gsdmc2 APN 15 63,707,729 (GRCm39) missense probably damaging 1.00
R0046:Gsdmc2 UTSW 15 63,699,604 (GRCm39) splice site probably benign
R0105:Gsdmc2 UTSW 15 63,700,026 (GRCm39) missense probably benign
R0105:Gsdmc2 UTSW 15 63,700,026 (GRCm39) missense probably benign
R0655:Gsdmc2 UTSW 15 63,699,622 (GRCm39) missense probably benign 0.00
R1066:Gsdmc2 UTSW 15 63,696,899 (GRCm39) missense possibly damaging 0.92
R1283:Gsdmc2 UTSW 15 63,696,906 (GRCm39) missense probably damaging 0.99
R1691:Gsdmc2 UTSW 15 63,705,314 (GRCm39) missense probably damaging 1.00
R1727:Gsdmc2 UTSW 15 63,721,628 (GRCm39) unclassified probably benign
R1911:Gsdmc2 UTSW 15 63,699,621 (GRCm39) missense probably benign 0.00
R1990:Gsdmc2 UTSW 15 63,700,086 (GRCm39) missense probably benign 0.00
R1991:Gsdmc2 UTSW 15 63,700,086 (GRCm39) missense probably benign 0.00
R2018:Gsdmc2 UTSW 15 63,699,975 (GRCm39) splice site probably null
R2090:Gsdmc2 UTSW 15 63,698,675 (GRCm39) missense probably benign 0.09
R3037:Gsdmc2 UTSW 15 63,705,180 (GRCm39) missense probably benign 0.00
R3964:Gsdmc2 UTSW 15 63,721,683 (GRCm39) unclassified probably benign
R4308:Gsdmc2 UTSW 15 63,720,554 (GRCm39) unclassified probably benign
R4574:Gsdmc2 UTSW 15 63,699,872 (GRCm39) critical splice donor site probably null
R4738:Gsdmc2 UTSW 15 63,698,650 (GRCm39) nonsense probably null
R4873:Gsdmc2 UTSW 15 63,700,101 (GRCm39) missense probably benign 0.41
R4875:Gsdmc2 UTSW 15 63,700,101 (GRCm39) missense probably benign 0.41
R4883:Gsdmc2 UTSW 15 63,707,614 (GRCm39) missense probably damaging 1.00
R5115:Gsdmc2 UTSW 15 63,699,617 (GRCm39) missense probably benign 0.00
R5241:Gsdmc2 UTSW 15 63,696,743 (GRCm39) missense probably benign 0.00
R5510:Gsdmc2 UTSW 15 63,700,045 (GRCm39) missense probably benign
R5841:Gsdmc2 UTSW 15 63,698,059 (GRCm39) missense probably benign 0.00
R5987:Gsdmc2 UTSW 15 63,702,715 (GRCm39) missense probably benign 0.00
R6199:Gsdmc2 UTSW 15 63,696,962 (GRCm39) missense probably benign 0.01
R6359:Gsdmc2 UTSW 15 63,696,866 (GRCm39) missense probably damaging 1.00
R6610:Gsdmc2 UTSW 15 63,696,857 (GRCm39) missense probably benign 0.03
R6984:Gsdmc2 UTSW 15 63,696,898 (GRCm39) nonsense probably null
R7092:Gsdmc2 UTSW 15 63,696,947 (GRCm39) missense probably damaging 0.99
R7204:Gsdmc2 UTSW 15 63,696,903 (GRCm39) missense probably damaging 1.00
R7247:Gsdmc2 UTSW 15 63,705,183 (GRCm39) missense probably benign 0.02
R7409:Gsdmc2 UTSW 15 63,705,195 (GRCm39) missense possibly damaging 0.85
R7589:Gsdmc2 UTSW 15 63,696,892 (GRCm39) missense probably damaging 1.00
R7636:Gsdmc2 UTSW 15 63,700,041 (GRCm39) missense probably benign 0.00
R7658:Gsdmc2 UTSW 15 63,696,903 (GRCm39) missense probably damaging 1.00
R7673:Gsdmc2 UTSW 15 63,696,932 (GRCm39) missense probably damaging 1.00
R8017:Gsdmc2 UTSW 15 63,698,762 (GRCm39) missense probably benign 0.28
R8019:Gsdmc2 UTSW 15 63,698,762 (GRCm39) missense probably benign 0.28
R8368:Gsdmc2 UTSW 15 63,696,902 (GRCm39) missense probably damaging 1.00
R8512:Gsdmc2 UTSW 15 63,706,864 (GRCm39) missense probably null 0.74
R9266:Gsdmc2 UTSW 15 63,698,088 (GRCm39) missense probably damaging 1.00
R9515:Gsdmc2 UTSW 15 63,702,678 (GRCm39) missense probably benign 0.15
R9577:Gsdmc2 UTSW 15 63,696,906 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16