Mutagenetix > Incidental Mutation

Incidental Mutation 'R1283:Gsdmc2'

151095

Institutional Source

Beutler Lab

Gene Symbol

Gsdmc2

Ensembl Gene

ENSMUSG00000056293

Gene Name

gasdermin C2

Synonyms

MMRRC Submission

039349-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63696195-63717026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63696906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 422 (I422V)

Ref Sequence

ENSEMBL: ENSMUSP00000140487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089900] [ENSMUST00000188404] [ENSMUST00000188691]

AlphaFold

Q2KHK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000089900
AA Change: I422V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: I422V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.8e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185277

Predicted Effect

probably damaging
Transcript: ENSMUST00000188404
AA Change: I422V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: I422V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.7e-148	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188691
AA Change: I422V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: I422V

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	4	443	1.7e-148	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,336,701 (GRCm39)	I2269N	probably damaging	Het
Ap4b1	T	A	3: 103,726,177 (GRCm39)	V251E	probably damaging	Het
Btn2a2	A	G	13: 23,663,002 (GRCm39)	V316A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fdxacb1	A	G	9: 50,679,994 (GRCm39)	E60G	possibly damaging	Het
Gins3	A	G	8: 96,364,574 (GRCm39)	D108G	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Lamb2	A	G	9: 108,359,007 (GRCm39)	N241S	possibly damaging	Het
Mfsd12	T	C	10: 81,197,269 (GRCm39)	V254A	probably benign	Het
Mgst3	A	G	1: 167,205,865 (GRCm39)	V38A	possibly damaging	Het
Myh13	A	T	11: 67,261,747 (GRCm39)	E1890V	probably damaging	Het
Or52n20	A	G	7: 104,320,150 (GRCm39)	I80M	possibly damaging	Het
Rab11fip3	G	T	17: 26,223,528 (GRCm39)	D800E	probably damaging	Het
Scn8a	T	C	15: 100,867,052 (GRCm39)	I286T	possibly damaging	Het
Slc25a44	T	C	3: 88,327,885 (GRCm39)	Y183C	probably damaging	Het
Tmem170b	T	C	13: 41,781,471 (GRCm39)	F39L	possibly damaging	Het
Trpt1	T	A	19: 6,975,696 (GRCm39)	L150*	probably null	Het

Other mutations in Gsdmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGGAAGGCTACCCTTGCTCAAATG -3'
(R):5'- TCCTGGGTGTTGGGACAGATCTTAC -3'

Sequencing Primer
(F):5'- tgagaagttgttgaggaaaaagg -3'
(R):5'- TGGGACAGATCTTACCCTGG -3'

Posted On

2014-01-29