Incidental Mutation 'R5241:Gsdmc2'
ID 400854
Institutional Source Beutler Lab
Gene Symbol Gsdmc2
Ensembl Gene ENSMUSG00000056293
Gene Name gasdermin C2
Synonyms
MMRRC Submission 042812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5241 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 63696195-63717026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63696743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 476 (R476H)
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: R476H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: R476H

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.8e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185277
Predicted Effect probably benign
Transcript: ENSMUST00000188404
AA Change: R476H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: R476H

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188691
AA Change: R476H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: R476H

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930033H14Rik A G 10: 69,048,581 (GRCm39) probably null Het
Adgrb3 T C 1: 25,150,871 (GRCm39) T881A possibly damaging Het
Adgrv1 A T 13: 81,637,048 (GRCm39) C3464* probably null Het
Afp A G 5: 90,649,473 (GRCm39) M347V probably benign Het
Apc2 A G 10: 80,148,068 (GRCm39) T1041A probably benign Het
Atl1 T C 12: 70,005,887 (GRCm39) S398P possibly damaging Het
Atp8b4 G A 2: 126,225,646 (GRCm39) P528L probably benign Het
Bahcc1 C A 11: 120,162,229 (GRCm39) P176T probably damaging Het
Bsnd A G 4: 106,345,182 (GRCm39) V88A probably benign Het
Dnah7c T A 1: 46,569,660 (GRCm39) F687Y probably benign Het
Dok6 T C 18: 89,616,913 (GRCm39) I23M possibly damaging Het
Fcgbp A T 7: 27,784,624 (GRCm39) D228V probably damaging Het
Gatad2a G A 8: 70,370,667 (GRCm39) Q107* probably null Het
Glis3 G T 19: 28,327,423 (GRCm39) T663K probably benign Het
Gm10784 T A 13: 50,099,129 (GRCm39) noncoding transcript Het
Gsdmc3 A G 15: 63,735,995 (GRCm39) S202P possibly damaging Het
Map3k8 T C 18: 4,340,750 (GRCm39) E188G probably damaging Het
Mccc1 T A 3: 36,028,345 (GRCm39) Q487L probably benign Het
Msantd1 A G 5: 35,078,813 (GRCm39) D116G probably damaging Het
Myh1 T A 11: 67,095,275 (GRCm39) S212T probably benign Het
Nr1h4 A G 10: 89,319,351 (GRCm39) Y158H probably damaging Het
Or4p19 T C 2: 88,242,442 (GRCm39) T187A possibly damaging Het
Or51f1e T C 7: 102,747,524 (GRCm39) V192A probably benign Het
Or6k8-ps1 T A 1: 173,979,667 (GRCm39) I195N probably benign Het
Pcnt A T 10: 76,269,451 (GRCm39) H272Q probably benign Het
Pdia5 T C 16: 35,250,145 (GRCm39) N242S probably benign Het
Pkd1l2 A T 8: 117,761,857 (GRCm39) D1441E probably damaging Het
Runx2 G T 17: 44,950,664 (GRCm39) Y203* probably null Het
Sdr9c7 T G 10: 127,745,659 (GRCm39) I257S probably benign Het
Slitrk1 A G 14: 109,150,444 (GRCm39) M89T probably benign Het
St14 G T 9: 31,011,714 (GRCm39) C397* probably null Het
Tas2r123 T C 6: 132,824,181 (GRCm39) I26T probably benign Het
Tmem144 A T 3: 79,721,431 (GRCm39) M329K probably benign Het
Tmem252 T C 19: 24,651,491 (GRCm39) M20T probably benign Het
Umodl1 T C 17: 31,203,066 (GRCm39) V473A probably benign Het
Wdr70 A G 15: 8,108,700 (GRCm39) C149R probably benign Het
Xirp2 C T 2: 67,312,704 (GRCm39) R58* probably null Het
Zer1 A C 2: 29,994,982 (GRCm39) L471R probably damaging Het
Zfp101 C T 17: 33,601,210 (GRCm39) C182Y 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
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
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'- AGGCTACCCTTGCTCAAATG -3'
(R):5'- GCTTGGCCATTACTTATGAATTGC -3'

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