Mutagenetix > Incidental Mutation

Incidental Mutation 'R2964:Gsdma2'

255983

Institutional Source

Beutler Lab

Gene Symbol

Gsdma2

Ensembl Gene

ENSMUSG00000017211

Gene Name

gasdermin A2

Synonyms

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

MMRRC Submission

040520-MU

Accession Numbers

Essential gene?

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

Stock #

R2964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98537585-98548790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98548085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 184 (S184P)

Ref Sequence

ENSEMBL: ENSMUSP00000017355 (fasta)

Gene Model

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

AlphaFold

Q32M21

Predicted Effect

probably damaging
Transcript: ENSMUST00000017355
AA Change: S184P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
AA Change: S184P

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 damaging
Transcript: ENSMUST00000093938
AA Change: S351P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: S351P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129186

Meta Mutation Damage Score

0.3510

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Acox3	T	C	5: 35,762,611 (GRCm39)	I495T	possibly damaging	Het
Acsl3	A	G	1: 78,672,011 (GRCm39)	S302G	probably benign	Het
Ap1s1	T	C	5: 137,066,357 (GRCm39)	D148G	probably damaging	Het
Asprv1	T	A	6: 86,605,348 (GRCm39)	C65S	probably damaging	Het
Cdkal1	A	G	13: 29,628,018 (GRCm39)	S39P	unknown	Het
Chrna2	T	C	14: 66,386,817 (GRCm39)	V321A	possibly damaging	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Col13a1	G	A	10: 61,797,110 (GRCm39)	R106W	probably damaging	Het
Cul9	A	G	17: 46,813,154 (GRCm39)	V2355A	probably damaging	Het
Cwh43	T	C	5: 73,565,679 (GRCm39)		probably benign	Het
Dbi	C	T	1: 120,047,846 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,607,460 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Gtf2ird1	T	C	5: 134,386,538 (GRCm39)		probably null	Het
H2-T22	A	G	17: 36,351,537 (GRCm39)	L231S	probably damaging	Het
Hrh4	T	C	18: 13,155,426 (GRCm39)	C322R	probably benign	Het
Ing1	T	A	8: 11,611,641 (GRCm39)	S26R	probably benign	Het
Kif3a	A	T	11: 53,469,757 (GRCm39)	I123F	probably damaging	Het
Lrp6	T	C	6: 134,444,489 (GRCm39)	E1127G	probably damaging	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mdc1	A	T	17: 36,164,529 (GRCm39)	Q1359L	possibly damaging	Het
Mdga1	A	T	17: 30,071,442 (GRCm39)	I393N	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Myo3a	T	C	2: 22,345,067 (GRCm39)	V509A	possibly damaging	Het
Nav2	C	T	7: 49,206,780 (GRCm39)	T1535I	probably damaging	Het
Nlrp4d	G	T	7: 10,112,256 (GRCm39)	S626*	probably null	Het
Nup188	T	A	2: 30,215,358 (GRCm39)	I732K	probably damaging	Het
Oprm1	T	C	10: 6,738,914 (GRCm39)	S14P	probably damaging	Het
Or1j12	T	C	2: 36,342,779 (GRCm39)	F61L	probably damaging	Het
Or1l8	G	A	2: 36,817,419 (GRCm39)	R236C	probably benign	Het
Or5b101	C	T	19: 13,005,412 (GRCm39)	A94T	probably benign	Het
Pigr	G	A	1: 130,769,272 (GRCm39)	V28M	probably damaging	Het
Pnpla2	C	T	7: 141,038,391 (GRCm39)	L215F	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rasal1	T	A	5: 120,809,685 (GRCm39)	L530Q	probably damaging	Het
Sdccag8	A	T	1: 176,775,937 (GRCm39)	K616M	possibly damaging	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Trav7d-4	C	T	14: 53,007,584 (GRCm39)	Q26*	probably null	Het
Zcchc8	A	G	5: 123,858,930 (GRCm39)	S22P	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
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'- AGAGCAGGTGTTCATCTGTG -3'
(R):5'- GGGAGAGGGGAAGACTTTTCTC -3'

Sequencing Primer
(F):5'- AGAGCAGGTGTTCATCTGTGGATAG -3'
(R):5'- GAAGACTTTTCTCTAGGGATAAGGC -3'

Posted On

2014-12-29