Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02094:Casp2'

279525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casp2

Ensembl Gene

ENSMUSG00000029863

Gene Name

caspase 2

Synonyms

Nedd2, Caspase-2, Ich-1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.479) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

42264985-42282508 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42280359 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 414 (I414N)

Ref Sequence

ENSEMBL: ENSMUSP00000031895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000156829]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031895
AA Change: I414N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: I414N

Domain	Start	End	E-Value	Type
CARD	32	120	2.27e-32	SMART
CASc	191	447	3.27e-129	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152893

Predicted Effect

probably benign
Transcript: ENSMUST00000156829

SMART Domains

Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863

Domain	Start	End	E-Value	Type
CARD	32	120	2.27e-32	SMART
CASc	191	341	8.07e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203089

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the evolutionarily ancient and most conserved member of the cysteine proteases that plays important role in stress-induced apoptosis, DNA repair and tumor suppression. Mice lacking the encoded protein develop normally but display cell type-specific apoptotic defects. Germ cells and oocytes from such mice were found to be resistant to cell death after treatment with chemotherapeutic drugs. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal apoptosis. Apoptosis is reduced in the female germline, but is increased in sympathetic neurons during development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,871,445	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,570,620	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,868,357	M98I	probably benign	Het
Arl3	T	C	19: 46,558,341	D15G	probably benign	Het
Ceacam1	T	C	7: 25,474,543	D229G	probably damaging	Het
Cog7	G	T	7: 121,963,247	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,104,821	T392S	probably benign	Het
Ebf2	G	A	14: 67,235,240	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,558,240	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,199,845	V171A	probably benign	Het
Itgax	A	G	7: 128,131,473	Y121C	probably damaging	Het
Kcng4	C	A	8: 119,633,221	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,325,708	T283K	probably damaging	Het
Mgl2	T	A	11: 70,137,097	I377K	possibly damaging	Het
Myo15	T	C	11: 60,510,647		probably benign	Het
Nod1	A	T	6: 54,939,390		probably null	Het
Nr1h5	A	T	3: 102,952,196	C182*	probably null	Het
Nup210l	G	T	3: 90,180,213		probably null	Het
Ptbp2	G	A	3: 119,752,940		probably benign	Het
Ptpn13	T	G	5: 103,594,617	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,997,262	S676P	probably damaging	Het
Recql4	T	A	15: 76,709,517	Q131L	probably benign	Het
Sbno2	G	A	10: 80,057,645	P1274L	probably benign	Het
Sec24c	T	C	14: 20,688,402	V341A	probably damaging	Het
Smc1b	A	T	15: 85,097,891		probably benign	Het
Sptbn1	T	C	11: 30,100,659	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,980,239	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,743,281	D97E	probably damaging	Het
Trpm2	G	A	10: 77,942,996	Q379*	probably null	Het
Ttn	A	G	2: 76,818,823		probably benign	Het
Vmn2r74	A	T	7: 85,961,461	F8I	probably benign	Het
Zfp36	C	T	7: 28,377,763	S240N	probably benign	Het
Zfp65	A	G	13: 67,708,185	I325T	possibly damaging	Het

Other mutations in Casp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Casp2	APN	6	42269285	nonsense	probably null
IGL02371:Casp2	APN	6	42267968	missense	probably benign	0.00
IGL02414:Casp2	APN	6	42280446	missense	probably damaging	1.00
IGL03298:Casp2	APN	6	42268990	splice site	probably benign
R1240:Casp2	UTSW	6	42268945	missense	probably damaging	1.00
R1424:Casp2	UTSW	6	42276791	splice site	probably benign
R1672:Casp2	UTSW	6	42268908	missense	probably damaging	1.00
R4110:Casp2	UTSW	6	42267894	missense	probably damaging	1.00
R4113:Casp2	UTSW	6	42267894	missense	probably damaging	1.00
R5062:Casp2	UTSW	6	42269272	splice site	probably benign
R5469:Casp2	UTSW	6	42269334	missense	probably benign	0.00
R5835:Casp2	UTSW	6	42267586	missense	possibly damaging	0.84
R5877:Casp2	UTSW	6	42276637	intron	probably benign
R6103:Casp2	UTSW	6	42279880	missense	probably damaging	0.99
R6667:Casp2	UTSW	6	42279836	missense	probably damaging	1.00
R6702:Casp2	UTSW	6	42268051	missense	probably benign
R6754:Casp2	UTSW	6	42269330	missense	probably damaging	1.00
R7141:Casp2	UTSW	6	42280395	missense	possibly damaging	0.68
R7255:Casp2	UTSW	6	42268907	missense	probably damaging	1.00
R7611:Casp2	UTSW	6	42274038	missense	possibly damaging	0.95
X0065:Casp2	UTSW	6	42280143	missense	possibly damaging	0.95

Posted On

2015-04-16