Incidental Mutation 'R5987:Gsdmc2'
ID 481763
Institutional Source Beutler Lab
Gene Symbol Gsdmc2
Ensembl Gene ENSMUSG00000056293
Gene Name gasdermin C2
Synonyms
MMRRC Submission 044167-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5987 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 63696195-63717026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 63702715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 184 (V184G)
Ref Sequence ENSEMBL: ENSMUSP00000140487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089900] [ENSMUST00000188404] [ENSMUST00000188691]
AlphaFold Q2KHK6
Predicted Effect probably benign
Transcript: ENSMUST00000089900
AA Change: V184G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: V184G

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.8e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188404
AA Change: V184G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: V184G

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188691
AA Change: V184G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: V184G

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,297,257 (GRCm39) L2411R probably damaging Het
Als2 A G 1: 59,245,746 (GRCm39) W577R probably damaging Het
Aox1 C A 1: 58,346,518 (GRCm39) R551S probably benign Het
Areg A T 5: 91,294,577 (GRCm39) H245L possibly damaging Het
Arhgap35 T C 7: 16,297,392 (GRCm39) T558A possibly damaging Het
Arhgef28 A T 13: 98,073,368 (GRCm39) C1322* probably null Het
Arhgef38 T C 3: 132,912,719 (GRCm39) R107G possibly damaging Het
Atf7ip T A 6: 136,548,500 (GRCm39) F695L probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Bche T G 3: 73,556,011 (GRCm39) Q549P possibly damaging Het
Blnk A G 19: 40,917,733 (GRCm39) F417L possibly damaging Het
Bloc1s1 T G 10: 128,759,255 (GRCm39) K17T probably damaging Het
C330018D20Rik G T 18: 57,090,968 (GRCm39) T65K probably damaging Het
Ccdc168 A T 1: 44,096,417 (GRCm39) N1560K probably benign Het
Cers1 T A 8: 70,774,228 (GRCm39) S162T possibly damaging Het
Cgn T C 3: 94,686,832 (GRCm39) K157E probably benign Het
Cldn7 G A 11: 69,858,494 (GRCm39) R196Q probably benign Het
Clrn2 C A 5: 45,611,369 (GRCm39) Q73K probably benign Het
Cmss1 A G 16: 57,122,608 (GRCm39) V262A probably benign Het
Cpb2 T A 14: 75,498,128 (GRCm39) V97E probably damaging Het
Ctnnd2 G A 15: 30,683,387 (GRCm39) V463I probably benign Het
Cyp7a1 A T 4: 6,268,476 (GRCm39) S416R probably benign Het
Dip2b C T 15: 100,087,960 (GRCm39) R965C probably damaging Het
Dkk3 T C 7: 111,749,865 (GRCm39) T102A probably benign Het
Dmap1 C A 4: 117,538,039 (GRCm39) probably null Het
Dnah12 C A 14: 26,608,828 (GRCm39) D3872E possibly damaging Het
Dnah7b A G 1: 46,158,558 (GRCm39) probably null Het
Dnai1 C T 4: 41,632,391 (GRCm39) T575I probably benign Het
Dsg1a T A 18: 20,464,599 (GRCm39) Y365N probably damaging Het
Dusp11 T A 6: 85,936,215 (GRCm39) K18* probably null Het
E2f2 A T 4: 135,900,245 (GRCm39) T52S probably benign Het
Elavl4 A G 4: 110,147,841 (GRCm39) L13S probably benign Het
Epor T C 9: 21,873,572 (GRCm39) D59G possibly damaging Het
Eral1 A G 11: 77,971,059 (GRCm39) C43R possibly damaging Het
Fam135b A G 15: 71,362,697 (GRCm39) V228A probably benign Het
Gba1 T C 3: 89,113,129 (GRCm39) S187P probably damaging Het
Gcc2 G T 10: 58,091,669 (GRCm39) probably benign Het
Gdap2 C A 3: 100,109,572 (GRCm39) probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gpr160 T C 3: 30,950,612 (GRCm39) L228P probably benign Het
Gtf2e2 A T 8: 34,266,080 (GRCm39) K252M probably damaging Het
Gtf2e2 G T 8: 34,266,081 (GRCm39) K252N probably benign Het
Gys1 T C 7: 45,087,529 (GRCm39) Y102H probably benign Het
H4c2 A G 13: 23,941,209 (GRCm39) D69G probably damaging Het
Ifit3b A C 19: 34,589,598 (GRCm39) D258A probably damaging Het
Itpr3 T A 17: 27,323,575 (GRCm39) M1200K probably damaging Het
Kcng4 A T 8: 120,353,098 (GRCm39) F271I probably damaging Het
Klhdc2 C T 12: 69,350,387 (GRCm39) S144L possibly damaging Het
Lhcgr A G 17: 89,063,006 (GRCm39) F222S probably damaging Het
Lrp5 C G 19: 3,678,299 (GRCm39) G519R probably damaging Het
Magel2 T C 7: 62,028,515 (GRCm39) V473A probably benign Het
Map1a T C 2: 121,134,776 (GRCm39) V1864A possibly damaging Het
Mast4 T A 13: 102,895,242 (GRCm39) Q760H probably damaging Het
Mertk A G 2: 128,613,294 (GRCm39) N437D probably benign Het
Mettl18 G A 1: 163,824,344 (GRCm39) V222I probably benign Het
Mical2 C T 7: 111,934,155 (GRCm39) T782M probably benign Het
Mocos T A 18: 24,819,750 (GRCm39) V664E probably damaging Het
Neb G T 2: 52,185,306 (GRCm39) N975K probably benign Het
Nectin3 A T 16: 46,284,508 (GRCm39) S59T probably benign Het
Nelfb A T 2: 25,093,900 (GRCm39) M11K probably damaging Het
Nrp1 A G 8: 129,202,650 (GRCm39) N545S probably damaging Het
Or10ak11 T C 4: 118,687,478 (GRCm39) D53G probably damaging Het
Or2g1 T A 17: 38,107,248 (GRCm39) N304K probably benign Het
Or51b4 T A 7: 103,530,907 (GRCm39) D181V probably damaging Het
Or5b117 A T 19: 13,431,324 (GRCm39) S186T possibly damaging Het
Or5p67 T A 7: 107,922,254 (GRCm39) T210S probably benign Het
Or6c70 A T 10: 129,710,390 (GRCm39) F79I probably damaging Het
Or8g53 T C 9: 39,683,836 (GRCm39) T87A probably benign Het
P3h1 A G 4: 119,103,862 (GRCm39) H587R probably damaging Het
Paqr4 A G 17: 23,958,832 (GRCm39) probably null Het
Pde12 A G 14: 26,390,253 (GRCm39) V152A probably benign Het
Ppip5k1 C A 2: 121,180,972 (GRCm39) E45* probably null Het
Ptch2 C T 4: 116,967,254 (GRCm39) A677V probably benign Het
Rgs12 A G 5: 35,177,689 (GRCm39) N93S probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnf32 T C 5: 29,408,145 (GRCm39) S125P probably damaging Het
Robo4 A G 9: 37,322,696 (GRCm39) I850V probably damaging Het
Scap T A 9: 110,210,219 (GRCm39) I876N probably damaging Het
Sin3a A G 9: 57,034,484 (GRCm39) D1219G possibly damaging Het
Skint5 T C 4: 113,743,005 (GRCm39) E354G unknown Het
Spart A G 3: 55,033,962 (GRCm39) D396G probably benign Het
Spindoc G A 19: 7,351,024 (GRCm39) S311L probably benign Het
Spta1 G T 1: 174,050,894 (GRCm39) R1791L probably damaging Het
Tbck T C 3: 132,507,278 (GRCm39) I750T possibly damaging Het
Tmem191 T C 16: 17,094,334 (GRCm39) probably null Het
Trgv1 A T 13: 19,524,474 (GRCm39) Y66F probably benign Het
Vmn2r125 A G 4: 156,702,292 (GRCm39) Y26C probably damaging Het
Zbtb17 T C 4: 141,192,128 (GRCm39) C358R possibly damaging Het
Zfp180 G A 7: 23,804,859 (GRCm39) G426E probably damaging Het
Zfp445 A G 9: 122,682,951 (GRCm39) V330A probably benign Het
Zfp595 A G 13: 67,465,688 (GRCm39) C192R probably damaging Het
Zkscan4 A G 13: 21,668,623 (GRCm39) H387R 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
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
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'- GCCTGTAGTCAGAAGAGGTAC -3'
(R):5'- TCCCACGTTTCAATGTAGGC -3'

Sequencing Primer
(F):5'- GAGGTACACATCTTTGGACACC -3'
(R):5'- CCACGTTTCAATGTAGGCAAATATTG -3'
Posted On 2017-06-26