Incidental Mutation 'R5841:Gsdmc2'
ID 450465
Institutional Source Beutler Lab
Gene Symbol Gsdmc2
Ensembl Gene ENSMUSG00000056293
Gene Name gasdermin C2
Synonyms
MMRRC Submission 044061-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5841 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 63696195-63717026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63698059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 349 (V349I)
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: V349I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: V349I

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.8e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185277
Predicted Effect probably benign
Transcript: ENSMUST00000188404
AA Change: V349I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: V349I

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188691
AA Change: V349I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: V349I

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.7e-148 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A T 1: 75,150,994 (GRCm39) F565L possibly damaging Het
Abhd6 T A 14: 8,049,596 (GRCm38) V188D probably benign Het
Bbs12 T G 3: 37,373,670 (GRCm39) N39K probably benign Het
Bend5 A G 4: 111,290,667 (GRCm39) Y221C probably damaging Het
Brd8 A G 18: 34,738,576 (GRCm39) S683P probably damaging Het
Caskin1 A G 17: 24,715,183 (GRCm39) D79G probably damaging Het
Cdyl T C 13: 36,056,544 (GRCm39) L509P probably damaging Het
Cenpf G T 1: 189,389,641 (GRCm39) T1397N possibly damaging Het
Ckap5 T A 2: 91,431,027 (GRCm39) M1479K probably benign Het
Cpsf2 T C 12: 101,951,497 (GRCm39) S145P probably damaging Het
Cyp4a12a A T 4: 115,183,899 (GRCm39) H235L probably benign Het
Cyp7b1 A T 3: 18,151,670 (GRCm39) F181Y probably damaging Het
Dennd5b T C 6: 148,946,253 (GRCm39) T453A probably benign Het
Dlgap3 A G 4: 127,089,193 (GRCm39) D263G probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dync2li1 G A 17: 84,940,990 (GRCm39) G69R probably damaging Het
Edc3 T C 9: 57,651,885 (GRCm39) V331A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ganc C T 2: 120,242,020 (GRCm39) T66I possibly damaging Het
Gm11595 C A 11: 99,663,143 (GRCm39) C179F unknown Het
Gnptg A G 17: 25,454,391 (GRCm39) S159P probably damaging Het
Hydin T C 8: 111,259,846 (GRCm39) I2606T possibly damaging Het
Ino80d A G 1: 63,097,999 (GRCm39) S632P probably damaging Het
Kcnn2 G A 18: 45,692,463 (GRCm39) R13H probably benign Het
Klb A T 5: 65,536,667 (GRCm39) K666* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kpna7 T C 5: 144,930,766 (GRCm39) I360V possibly damaging Het
Lmbrd2 A G 15: 9,182,657 (GRCm39) K576E possibly damaging Het
Lrp2 T A 2: 69,310,497 (GRCm39) Y2692F probably benign Het
Meis2 T A 2: 115,889,145 (GRCm39) E202D probably benign Het
Mgat4c A T 10: 102,224,826 (GRCm39) T347S probably damaging Het
Mmp12 G A 9: 7,347,501 (GRCm39) C26Y possibly damaging Het
Mrpl24 G A 3: 87,830,292 (GRCm39) R145Q probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Mycbpap T A 11: 94,396,436 (GRCm39) R135W probably damaging Het
Myo1g T A 11: 6,457,000 (GRCm39) Y942F probably benign Het
Myrf T C 19: 10,200,911 (GRCm39) K52R probably null Het
Ncf2 A T 1: 152,697,269 (GRCm39) silent Het
Nherf2 A T 17: 24,863,851 (GRCm39) M8K probably benign Het
Or51f1e T C 7: 102,747,161 (GRCm39) F71S probably damaging Het
Otx1 T C 11: 21,948,594 (GRCm39) probably benign Het
Pcnx1 T A 12: 81,965,429 (GRCm39) V532D possibly damaging Het
Pik3r5 T C 11: 68,383,096 (GRCm39) L305P probably damaging Het
Pira13 T A 7: 3,825,898 (GRCm39) R324* probably null Het
Polr3a A T 14: 24,500,766 (GRCm39) C1341S probably benign Het
Ppp1r3a T C 6: 14,718,983 (GRCm39) T644A probably benign Het
Pramel22 A G 4: 143,382,109 (GRCm39) S196P possibly damaging Het
Ptbp1 A G 10: 79,695,766 (GRCm39) D289G probably benign Het
Pwp2 A G 10: 78,007,952 (GRCm39) F868L probably benign Het
Rgs8 A G 1: 153,568,574 (GRCm39) E153G probably damaging Het
Rhbdf2 G A 11: 116,493,180 (GRCm39) probably benign Het
Sbf1 T C 15: 89,192,271 (GRCm39) H78R probably damaging Het
Sdr16c6 C T 4: 4,062,728 (GRCm39) A197T possibly damaging Het
Slc36a3 A T 11: 55,016,547 (GRCm39) Y349* probably null Het
Slc38a9 T C 13: 112,831,856 (GRCm39) L202P possibly damaging Het
Slc40a1 A T 1: 45,951,509 (GRCm39) M216K probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Srp54b A G 12: 55,299,614 (GRCm39) N315S probably benign Het
Strc A G 2: 121,196,358 (GRCm39) F1557L probably benign Het
Susd3 C A 13: 49,392,202 (GRCm39) probably benign Het
Usp54 G A 14: 20,600,351 (GRCm39) T1462I probably benign Het
Vmn1r11 T A 6: 57,114,787 (GRCm39) N150K probably damaging Het
Vwa8 C T 14: 79,231,958 (GRCm39) H606Y probably benign Het
Zmym6 A G 4: 126,994,463 (GRCm39) I206V possibly 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
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'- CTTGCTGGCATTAGAGAGAAGG -3'
(R):5'- CCACGGAGAGGTACTTAACTCC -3'

Sequencing Primer
(F):5'- AAGGGTGATGTGCGAATGGTC -3'
(R):5'- AAAGTTCAGGGTCTTCCTAGGCTAC -3'
Posted On 2016-12-20