Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:Gsdma2'

589157

Institutional Source

Beutler Lab

Gene Symbol

Gsdma2

Ensembl Gene

ENSMUSG00000017211

Gene Name

gasdermin A2

Synonyms

2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik

MMRRC Submission

045688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98537585-98548790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98540375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 98 (M98T)

Ref Sequence

ENSEMBL: ENSMUSP00000091470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017355] [ENSMUST00000093938]

AlphaFold

Q32M21

Predicted Effect

probably benign
Transcript: ENSMUST00000017355

SMART Domains

Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	6	251	2.9e-73	PFAM
low complexity region	259	273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093938
AA Change: M98T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: M98T

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	3	418	9.5e-144	PFAM
low complexity region	426	440	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,051,359 (GRCm39)	K112N	probably benign	Het
Brwd1	A	G	16: 95,866,087 (GRCm39)	S232P	probably damaging	Het
Calm5	A	T	13: 3,904,629 (GRCm39)	M108L	possibly damaging	Het
Ces1g	A	T	8: 94,055,094 (GRCm39)	V201D	probably damaging	Het
Cltc	C	A	11: 86,598,312 (GRCm39)	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,616,516 (GRCm39)	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,806,158 (GRCm39)	A39S	probably benign	Het
Elf1	A	G	14: 79,808,322 (GRCm39)	D258G	possibly damaging	Het
Entrep1	A	C	19: 23,972,168 (GRCm39)	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 111,896,300 (GRCm39)	D29V	probably benign	Het
Gm4340	T	C	10: 104,031,820 (GRCm39)	V188A	probably benign	Het
Hars1	A	T	18: 36,903,476 (GRCm39)	D315E	probably benign	Het
Hsph1	A	C	5: 149,555,540 (GRCm39)	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,012,008 (GRCm39)	D69V	probably benign	Het
Kirrel1	C	T	3: 86,995,528 (GRCm39)	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,600,187 (GRCm39)	T355K	possibly damaging	Het
Lce1m	T	C	3: 92,925,177 (GRCm39)		probably null	Het
Lmbrd1	A	T	1: 24,767,625 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,442,841 (GRCm39)	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,809,899 (GRCm39)	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834 (GRCm39)	K477*	probably null	Het
Nfe2l2	T	C	2: 75,509,757 (GRCm39)	D21G	probably damaging	Het
Or14c45	G	A	7: 86,176,280 (GRCm39)	C105Y	probably benign	Het
Or4f14d	T	C	2: 111,960,926 (GRCm39)	T77A	probably benign	Het
Or55b3	G	A	7: 102,126,472 (GRCm39)	R202C	possibly damaging	Het
Or8c15	T	C	9: 38,120,447 (GRCm39)	F31L	probably benign	Het
Pgap6	C	A	17: 26,336,865 (GRCm39)	P261Q	probably benign	Het
Pkm	T	A	9: 59,585,441 (GRCm39)	C474*	probably null	Het
Prr36	T	A	8: 4,263,150 (GRCm39)	I839F	unknown	Het
Qtrt2	A	G	16: 43,689,303 (GRCm39)		probably null	Het
Ripk4	A	T	16: 97,547,125 (GRCm39)	V379E	probably damaging	Het
Rreb1	C	A	13: 38,133,042 (GRCm39)	P304Q		Het
Saxo2	A	T	7: 82,297,625 (GRCm39)	C5S	possibly damaging	Het
Scart2	G	A	7: 139,876,742 (GRCm39)	G711D	probably damaging	Het
Sema5a	C	A	15: 32,609,378 (GRCm39)	T428N	possibly damaging	Het
Setd5	C	A	6: 113,121,010 (GRCm39)	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 137,984,150 (GRCm39)	C173G	probably benign	Het
Slc4a10	T	G	2: 62,080,823 (GRCm39)	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,106,743 (GRCm39)	C15R	probably damaging	Het
Smg7	A	T	1: 152,717,295 (GRCm39)	F940Y	possibly damaging	Het
Spata17	T	A	1: 186,854,833 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,210 (GRCm39)	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,421,673 (GRCm39)	D355G	probably damaging	Het
Thbs2	T	C	17: 14,894,426 (GRCm39)	D807G	probably benign	Het
Usp53	T	C	3: 122,754,934 (GRCm39)	T174A	probably benign	Het
Vmn2r52	A	G	7: 9,907,274 (GRCm39)	Y151H	probably benign	Het
Wdr12	G	A	1: 60,136,748 (GRCm39)		probably benign	Het

Other mutations in Gsdma2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0521:Gsdma2	UTSW	11	98,545,727 (GRCm39)	nonsense	probably null
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
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'- TCACCAAGCCCAGAGTTCTC -3'
(R):5'- TGCTTCCAATTACATGCACTAC -3'

Sequencing Primer
(F):5'- AGTTCTCTCTAGCAGTGCTGTGC -3'
(R):5'- TCTTAGCCATCCTGAGAGGTACAG -3'

Posted On

2019-10-24