Incidental Mutation 'R4308:Gsdmc2'
ID 324112
Institutional Source Beutler Lab
Gene Symbol Gsdmc2
Ensembl Gene ENSMUSG00000056293
Gene Name gasdermin C2
Synonyms
MMRRC Submission 041659-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R4308 (G1)
Quality Score 106
Status Validated
Chromosome 15
Chromosomal Location 63696195-63717026 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 63720554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000188404] [ENSMUST00000188691]
AlphaFold Q2KHK6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000071847
SMART Domains Protein: ENSMUSP00000071747
Gene: ENSMUSG00000062543

DomainStartEndE-ValueType
Pfam:Gasdermin 4 159 7.8e-40 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190937
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,588,311 (GRCm39) T4425M probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
Asap2 T C 12: 21,279,482 (GRCm39) I426T probably damaging Het
Ascc1 T G 10: 59,849,434 (GRCm39) H108Q probably benign Het
Bod1l A T 5: 41,949,156 (GRCm39) S2989T possibly damaging Het
Cfap157 G A 2: 32,669,054 (GRCm39) R350W probably damaging Het
Cyp39a1 T A 17: 44,041,855 (GRCm39) probably null Het
Dars2 A G 1: 160,869,291 (GRCm39) S653P probably damaging Het
Fancm A T 12: 65,173,305 (GRCm39) K1872N probably benign Het
Fktn C T 4: 53,724,617 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,423 (GRCm39) C205* probably null Het
Il31 A G 5: 123,618,769 (GRCm39) S6P probably damaging Het
Iqca1 T C 1: 90,072,619 (GRCm39) K87R probably damaging Het
Kif15 T G 9: 122,843,047 (GRCm39) H47Q probably benign Het
L3mbtl3 C T 10: 26,158,690 (GRCm39) A653T unknown Het
Lamb1 T C 12: 31,379,254 (GRCm39) L1737P probably damaging Het
Map2k5 C G 9: 63,142,586 (GRCm39) R353S probably benign Het
Mical2 C A 7: 111,931,199 (GRCm39) L721I probably benign Het
Myo1b T C 1: 51,922,268 (GRCm39) K37E probably benign Het
Myo5b A G 18: 74,864,811 (GRCm39) D1369G possibly damaging Het
Npc1 C T 18: 12,343,584 (GRCm39) A470T possibly damaging Het
Obi1 T A 14: 104,717,029 (GRCm39) N448I probably damaging Het
Or12e13 T C 2: 87,663,614 (GRCm39) I77T probably damaging Het
Or14j10 C T 17: 37,934,627 (GRCm39) V300I possibly damaging Het
Pcdhb1 A T 18: 37,399,714 (GRCm39) D555V probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rbm20 A G 19: 53,831,691 (GRCm39) S642G probably damaging Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Rwdd2b A T 16: 87,233,615 (GRCm39) W162R probably damaging Het
Scaf11 A G 15: 96,344,396 (GRCm39) M19T probably benign Het
Sft2d2 A G 1: 165,015,833 (GRCm39) I45T probably benign Het
Skint5 A T 4: 113,341,164 (GRCm39) H1371Q unknown Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Tasor2 A C 13: 3,619,498 (GRCm39) S2244R probably damaging Het
Ubr4 T C 4: 139,199,820 (GRCm39) V4568A possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r18 A T 5: 151,508,268 (GRCm39) Y285* probably null Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp983 A G 17: 21,881,124 (GRCm39) I351V 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
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'- ATGGCTTCCACTTTAAGACCAGAG -3'
(R):5'- TCTTGGAGATACCTGGGTCAG -3'

Sequencing Primer
(F):5'- AACCTAGCTCTGGGGTGATCAG -3'
(R):5'- TGGGTCAGGACAGCCAG -3'
Posted On 2015-06-24