Incidental Mutation 'R0521:Gsdma2'
ID 48573
Institutional Source Beutler Lab
Gene Symbol Gsdma2
Ensembl Gene ENSMUSG00000017211
Gene Name gasdermin A2
Synonyms 2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik
MMRRC Submission 038714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R0521 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98537585-98548790 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 98545727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 260 (K260*)
Ref Sequence ENSEMBL: ENSMUSP00000091470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017355] [ENSMUST00000093938]
AlphaFold Q32M21
Predicted Effect probably null
Transcript: ENSMUST00000017355
AA Change: K93*
SMART Domains Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
AA Change: K93*

DomainStartEndE-ValueType
Pfam:Gasdermin 6 251 2.9e-73 PFAM
low complexity region 259 273 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000093938
AA Change: K260*
SMART Domains Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: K260*

DomainStartEndE-ValueType
Pfam:Gasdermin 3 418 9.5e-144 PFAM
low complexity region 426 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136111
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,182,464 (GRCm39) S335T probably damaging Het
Abcb1b G A 5: 8,914,238 (GRCm39) A1203T probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Angel1 G A 12: 86,769,681 (GRCm39) S193F probably benign Het
Ankrd16 T C 2: 11,794,692 (GRCm39) V359A probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Bpifa5 C A 2: 154,008,869 (GRCm39) D223E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Ccm2 G A 11: 6,540,886 (GRCm39) S184N probably damaging Het
Ces5a T A 8: 94,252,286 (GRCm39) D202V probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Cog7 C A 7: 121,540,392 (GRCm39) probably null Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Cps1 A C 1: 67,254,723 (GRCm39) D1304A probably benign Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Ctdspl2 T A 2: 121,837,368 (GRCm39) C377* probably null Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Ddost A G 4: 138,038,046 (GRCm39) T262A probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Ddx54 A G 5: 120,764,927 (GRCm39) I769V probably benign Het
Dock1 T A 7: 134,745,507 (GRCm39) I1463N probably benign Het
Dsg3 T A 18: 20,660,872 (GRCm39) Y404N possibly damaging Het
Epb42 T A 2: 120,859,631 (GRCm39) K186* probably null Het
Farp2 A G 1: 93,504,543 (GRCm39) probably null Het
Fbxl9 A T 8: 106,039,425 (GRCm39) L617Q probably damaging Het
Fev C A 1: 74,921,692 (GRCm39) R86L possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Foxn3 A G 12: 99,175,765 (GRCm39) V261A probably benign Het
Fsd1 A G 17: 56,298,245 (GRCm39) D190G probably benign Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hic1 G A 11: 75,057,713 (GRCm39) P392L possibly damaging Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Ifna6 G T 4: 88,745,887 (GRCm39) V79F probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kdm5b T A 1: 134,545,771 (GRCm39) S977R possibly damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Map1a T G 2: 121,136,234 (GRCm39) L2350R probably damaging Het
Mdfic A G 6: 15,799,755 (GRCm39) D212G probably benign Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Myo9a T A 9: 59,801,635 (GRCm39) F1944L probably damaging Het
Nbea A T 3: 55,915,689 (GRCm39) W928R probably damaging Het
Nfatc2ip T G 7: 125,995,751 (GRCm39) D46A possibly damaging Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nsd2 T A 5: 34,000,682 (GRCm39) N66K probably damaging Het
Nsmce4a T C 7: 130,138,732 (GRCm39) H304R probably damaging Het
Odad2 G A 18: 7,222,676 (GRCm39) P531L possibly damaging Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or4a2 T C 2: 89,248,544 (GRCm39) Y71C probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or7e168 G A 9: 19,720,156 (GRCm39) V181I probably benign Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
Or8h9 C T 2: 86,789,190 (GRCm39) G204D probably damaging Het
Peg3 T C 7: 6,714,427 (GRCm39) E265G probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Pramel32 A T 4: 88,547,559 (GRCm39) N37K probably damaging Het
R3hdm1 G A 1: 128,121,440 (GRCm39) V315I probably benign Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Septin5 T C 16: 18,443,647 (GRCm39) T92A probably benign Het
Setdb1 A G 3: 95,246,140 (GRCm39) V595A probably benign Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Thnsl2 A T 6: 71,111,243 (GRCm39) D208E probably damaging Het
Tie1 A C 4: 118,333,343 (GRCm39) I841R probably damaging Het
Tll1 T G 8: 64,551,505 (GRCm39) D292A probably damaging Het
Tnfaip8l1 A T 17: 56,478,727 (GRCm39) T6S probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Vmn2r9 C A 5: 108,996,154 (GRCm39) G165* probably null Het
Xkr6 A T 14: 64,056,871 (GRCm39) I261F probably benign Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Yipf1 A G 4: 107,193,387 (GRCm39) Y91C probably benign Het
Zfp442 T C 2: 150,253,169 (GRCm39) D31G possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zfp804a C T 2: 82,089,761 (GRCm39) Q1197* probably null Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Gsdma2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Gsdma2 APN 11 98,541,800 (GRCm39) missense probably damaging 1.00
IGL03091:Gsdma2 APN 11 98,542,828 (GRCm39) missense probably damaging 1.00
IGL03252:Gsdma2 APN 11 98,539,916 (GRCm39) missense probably damaging 1.00
IGL03279:Gsdma2 APN 11 98,548,549 (GRCm39) missense unknown
R0116:Gsdma2 UTSW 11 98,540,009 (GRCm39) missense probably damaging 1.00
R0443:Gsdma2 UTSW 11 98,548,514 (GRCm39) missense probably damaging 1.00
R0626:Gsdma2 UTSW 11 98,542,810 (GRCm39) missense probably damaging 0.96
R1163:Gsdma2 UTSW 11 98,541,684 (GRCm39) missense probably damaging 0.96
R1340:Gsdma2 UTSW 11 98,548,475 (GRCm39) missense probably damaging 0.97
R1834:Gsdma2 UTSW 11 98,539,905 (GRCm39) missense probably damaging 1.00
R1972:Gsdma2 UTSW 11 98,541,744 (GRCm39) missense probably benign 0.04
R2344:Gsdma2 UTSW 11 98,546,417 (GRCm39) missense probably damaging 1.00
R2964:Gsdma2 UTSW 11 98,548,085 (GRCm39) missense probably damaging 1.00
R4093:Gsdma2 UTSW 11 98,541,677 (GRCm39) missense probably benign 0.42
R4256:Gsdma2 UTSW 11 98,542,758 (GRCm39) splice site probably null
R4711:Gsdma2 UTSW 11 98,540,439 (GRCm39) missense probably damaging 0.96
R5175:Gsdma2 UTSW 11 98,543,438 (GRCm39) missense probably benign 0.01
R6734:Gsdma2 UTSW 11 98,540,416 (GRCm39) missense possibly damaging 0.94
R6909:Gsdma2 UTSW 11 98,543,383 (GRCm39) nonsense probably null
R7621:Gsdma2 UTSW 11 98,540,375 (GRCm39) missense probably benign
R7749:Gsdma2 UTSW 11 98,548,547 (GRCm39) missense unknown
R8135:Gsdma2 UTSW 11 98,542,872 (GRCm39) missense probably benign 0.00
R8775:Gsdma2 UTSW 11 98,540,009 (GRCm39) missense probably damaging 1.00
R8775-TAIL:Gsdma2 UTSW 11 98,540,009 (GRCm39) missense probably damaging 1.00
R9599:Gsdma2 UTSW 11 98,540,459 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- GTCCCTTGATACAGAACCACTGCTC -3'
(R):5'- TCACTGTGCCATTGGCAGTTCC -3'

Sequencing Primer
(F):5'- CCCCTAAATGTCTGGGTGGAATC -3'
(R):5'- CATTGGCAGTTCCCCTCC -3'
Posted On 2013-06-12