Incidental Mutation 'R0046:Gsdmc2'
ID 218507
Institutional Source Beutler Lab
Gene Symbol Gsdmc2
Ensembl Gene ENSMUSG00000056293
Gene Name gasdermin C2
Synonyms
MMRRC Submission 038340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0046 (G1)
Quality Score 42
Status Validated
Chromosome 15
Chromosomal Location 63696195-63717026 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 63699604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089900] [ENSMUST00000188404] [ENSMUST00000188691]
AlphaFold Q2KHK6
Predicted Effect probably benign
Transcript: ENSMUST00000089900
SMART Domains Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.8e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188404
SMART Domains Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188691
SMART Domains Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 (GRCm39) K135* probably null Het
Adamts16 A G 13: 70,911,579 (GRCm39) S871P probably benign Het
Adcy10 A T 1: 165,367,403 (GRCm39) I558F probably damaging Het
Adsl T G 15: 80,846,989 (GRCm39) probably null Het
Aldob T C 4: 49,543,842 (GRCm39) I47V possibly damaging Het
Alkbh8 A G 9: 3,343,247 (GRCm39) E46G probably damaging Het
Ankrd33b G A 15: 31,367,483 (GRCm39) P19L probably damaging Het
Apoa5 T C 9: 46,181,296 (GRCm39) L124S probably damaging Het
Atp1a4 A T 1: 172,067,664 (GRCm39) L533Q probably benign Het
Atp7b T C 8: 22,550,011 (GRCm39) T9A probably benign Het
Auh G A 13: 53,083,421 (GRCm39) probably benign Het
B3gnt3 T C 8: 72,145,567 (GRCm39) Y267C probably damaging Het
Card11 T C 5: 140,894,279 (GRCm39) T117A possibly damaging Het
Ccdc39 A G 3: 33,898,301 (GRCm39) F15L possibly damaging Het
Chtf18 C T 17: 25,942,434 (GRCm39) R468Q probably benign Het
Cntnap5c T G 17: 58,666,295 (GRCm39) D1108E probably benign Het
Col14a1 G A 15: 55,272,359 (GRCm39) probably benign Het
Col6a6 C T 9: 105,626,047 (GRCm39) probably benign Het
Col9a3 G A 2: 180,251,280 (GRCm39) A317T possibly damaging Het
Cpt1c A T 7: 44,609,256 (GRCm39) probably benign Het
Cpt2 A G 4: 107,761,559 (GRCm39) probably null Het
Crebrf T A 17: 26,982,308 (GRCm39) L565M probably damaging Het
Cyp2d41-ps T A 15: 82,666,236 (GRCm39) noncoding transcript Het
Dhx9 C T 1: 153,348,453 (GRCm39) V291M probably benign Het
Dmxl1 T A 18: 50,011,149 (GRCm39) V1102E probably benign Het
Dnah7a A T 1: 53,496,033 (GRCm39) probably null Het
Dock4 G A 12: 40,787,359 (GRCm39) probably benign Het
Dpp3 G T 19: 4,964,671 (GRCm39) N545K probably damaging Het
Elmo2 T A 2: 165,140,646 (GRCm39) N275I probably damaging Het
Farp1 A G 14: 121,492,925 (GRCm39) K509R probably benign Het
Fat3 T C 9: 15,877,275 (GRCm39) Y3446C possibly damaging Het
Fgd2 T A 17: 29,593,964 (GRCm39) probably benign Het
Flg T A 3: 93,185,028 (GRCm39) probably benign Het
Gas2l2 A T 11: 83,312,736 (GRCm39) W859R probably damaging Het
Gatm T C 2: 122,431,225 (GRCm39) D254G probably damaging Het
Gjd4 T A 18: 9,280,998 (GRCm39) I27F probably damaging Het
Haus5 C T 7: 30,353,605 (GRCm39) V591I probably benign Het
Kcnab3 G A 11: 69,221,053 (GRCm39) probably null Het
Khdrbs2 A G 1: 32,658,283 (GRCm39) D281G possibly damaging Het
Krt86 A T 15: 101,375,283 (GRCm39) M393L probably benign Het
Limk1 T C 5: 134,701,615 (GRCm39) Y96C probably damaging Het
Lrp2bp T A 8: 46,466,192 (GRCm39) Y100* probably null Het
Mamstr T G 7: 45,291,194 (GRCm39) probably benign Het
Man1a A G 10: 53,795,283 (GRCm39) Y657H probably damaging Het
Marf1 G A 16: 13,929,591 (GRCm39) P1672S possibly damaging Het
Mboat7 T C 7: 3,686,817 (GRCm39) Y341C probably damaging Het
Nhsl1 A T 10: 18,401,417 (GRCm39) N881I probably damaging Het
Nox3 T C 17: 3,733,236 (GRCm39) Y225C probably benign Het
Nrp1 C T 8: 129,227,089 (GRCm39) probably benign Het
Or11g26 T A 14: 50,753,596 (GRCm39) *312K probably null Het
Or4c109 C T 2: 88,817,693 (GRCm39) M284I probably benign Het
Or4c35 C T 2: 89,808,851 (GRCm39) T243I probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or8k33 A G 2: 86,383,976 (GRCm39) F164S probably damaging Het
Pcdhb13 A T 18: 37,577,310 (GRCm39) M563L probably benign Het
Pclo C T 5: 14,590,493 (GRCm39) T931M unknown Het
Peli2 C T 14: 48,358,659 (GRCm39) P16S possibly damaging Het
Pfas G T 11: 68,881,293 (GRCm39) R1025S probably benign Het
Pik3c2a A T 7: 115,953,307 (GRCm39) I1196N probably damaging Het
Pmfbp1 A T 8: 110,262,617 (GRCm39) probably benign Het
Prg4 T C 1: 150,331,837 (GRCm39) T279A possibly damaging Het
Psma1 A T 7: 113,866,440 (GRCm39) probably benign Het
Rab11fip1 A G 8: 27,643,149 (GRCm39) L550P probably damaging Het
Rgs12 T A 5: 35,122,664 (GRCm39) I149N probably damaging Het
Rmnd5a T C 6: 71,376,215 (GRCm39) H195R probably damaging Het
Rnf17 T C 14: 56,708,830 (GRCm39) L750P probably damaging Het
Rtcb T C 10: 85,793,520 (GRCm39) N18D probably benign Het
Seh1l T C 18: 67,925,086 (GRCm39) probably null Het
Sis T G 3: 72,839,427 (GRCm39) N813T probably benign Het
Sptbn2 T C 19: 4,795,405 (GRCm39) probably benign Het
Stag3 C T 5: 138,281,285 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Taok3 C T 5: 117,410,294 (GRCm39) Q829* probably null Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tsbp1 T C 17: 34,679,095 (GRCm39) probably null Het
Ttn A G 2: 76,781,886 (GRCm39) probably benign Het
Unc79 A G 12: 103,091,940 (GRCm39) E1756G probably damaging Het
Usp35 A T 7: 96,962,804 (GRCm39) probably null Het
Vmn2r111 A G 17: 22,766,990 (GRCm39) F836L probably benign Het
Vmn2r77 A G 7: 86,451,146 (GRCm39) D344G possibly damaging Het
Zbtb40 A G 4: 136,714,589 (GRCm39) C1067R probably damaging 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
IGL02683:Gsdmc2 APN 15 63,705,261 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CCCATTTGTCCTCAGTGAACCTCAG -3'
(R):5'- AAGTACGCTTCTGCTTCCGAACCC -3'

Sequencing Primer
(F):5'- TGTGGAAGAAGGCCTCTGAT -3'
(R):5'- GGGTGGGCCAACATATTATCTC -3'
Posted On 2014-08-12