Mutagenetix > Incidental Mutation

Incidental Mutation 'R9350:Casp2'

708009

Institutional Source

Beutler Lab

Gene Symbol

Casp2

Ensembl Gene

ENSMUSG00000029863

Gene Name

caspase 2

Synonyms

Nedd2, Ich-1, Caspase-2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R9350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42241942-42259442 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42246332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 230 (V230A)

Ref Sequence

ENSEMBL: ENSMUSP00000031895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000095987] [ENSMUST00000156829]

AlphaFold

P29594

Predicted Effect

probably benign
Transcript: ENSMUST00000031895
AA Change: V230A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: V230A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095987

SMART Domains

Protein: ENSMUSP00000100590
Gene: ENSMUSG00000071506

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:TMEM51	58	194	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156829
AA Change: V230A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863
AA Change: V230A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,022,669 (GRCm39)	M274L	probably benign	Het
Adarb1	T	A	10: 77,158,267 (GRCm39)	N60I	possibly damaging	Het
Adgrv1	T	A	13: 81,654,274 (GRCm39)	N2919I	probably damaging	Het
Adora3	C	T	3: 105,814,613 (GRCm39)	T121M	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,260 (GRCm39)	N423Y	probably damaging	Het
Arhgap19	A	T	19: 41,761,566 (GRCm39)	F466Y	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atxn7l1	C	T	12: 33,417,315 (GRCm39)	T492I	probably benign	Het
B3galnt2	T	C	13: 14,170,393 (GRCm39)	S248P	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctnnbl1	G	A	2: 157,651,445 (GRCm39)	G240E	possibly damaging	Het
Dennd2c	T	C	3: 103,039,308 (GRCm39)	L152P	possibly damaging	Het
Dhx16	T	A	17: 36,200,203 (GRCm39)	F874Y	probably damaging	Het
Dnah14	A	T	1: 181,562,369 (GRCm39)	Y2643F	possibly damaging	Het
Dnah2	C	A	11: 69,384,073 (GRCm39)	V1048L	probably benign	Het
Dnah7a	T	C	1: 53,436,307 (GRCm39)	I4012V	probably benign	Het
Duox2	G	A	2: 122,115,729 (GRCm39)	R1002*	probably null	Het
Ears2	T	A	7: 121,643,786 (GRCm39)	K391*	probably null	Het
Eif4e	T	C	3: 138,259,470 (GRCm39)	V176A	probably benign	Het
Erbb4	T	A	1: 68,329,638 (GRCm39)	I626L	probably benign	Het
Fam171a1	C	T	2: 3,226,037 (GRCm39)	T390I	probably benign	Het
Fam187b	A	G	7: 30,677,037 (GRCm39)	E182G	possibly damaging	Het
Fam204a	A	G	19: 60,209,685 (GRCm39)	V15A	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Fzd6	A	G	15: 38,895,043 (GRCm39)	D403G	probably damaging	Het
Gars1	G	A	6: 55,029,249 (GRCm39)	A210T	probably null	Het
Gmcl1	A	T	6: 86,677,569 (GRCm39)	I428N	probably damaging	Het
Gmip	T	A	8: 70,263,832 (GRCm39)	I92N	probably damaging	Het
Il17rc	G	A	6: 113,456,048 (GRCm39)	V298I	probably damaging	Het
Kifap3	A	G	1: 163,610,630 (GRCm39)	I37V	probably benign	Het
Marf1	T	C	16: 13,963,789 (GRCm39)	K505E	probably damaging	Het
Masp2	A	T	4: 148,692,396 (GRCm39)		probably null	Het
Mmp15	G	A	8: 96,093,002 (GRCm39)	R127H	probably damaging	Het
Nrdc	A	G	4: 108,889,658 (GRCm39)	T402A	possibly damaging	Het
Or10d1c	A	T	9: 38,894,081 (GRCm39)	N86K	probably benign	Het
Or4k6	T	A	14: 50,475,407 (GRCm39)	I312L	probably benign	Het
Papln	A	T	12: 83,833,638 (GRCm39)	I1185F	probably damaging	Het
Pcdhgb1	A	G	18: 37,814,705 (GRCm39)	N399D	probably benign	Het
Pcdhgb6	T	A	18: 37,876,872 (GRCm39)	S527T	probably benign	Het
Phkb	T	A	8: 86,743,493 (GRCm39)	Y530*	probably null	Het
Pira2	A	G	7: 3,844,030 (GRCm39)	S581P	probably benign	Het
Pou4f3	A	T	18: 42,528,329 (GRCm39)	T91S	probably benign	Het
Prpf38a	A	G	4: 108,424,112 (GRCm39)	S296P	unknown	Het
Rnf213	T	C	11: 119,332,975 (GRCm39)	V2729A		Het
Rtl1	G	A	12: 109,557,226 (GRCm39)	Q1538*	probably null	Het
Sars2	T	C	7: 28,447,273 (GRCm39)	S224P	probably damaging	Het
Senp8	A	G	9: 59,645,105 (GRCm39)	V17A	probably benign	Het
Serpinb13	T	A	1: 106,923,562 (GRCm39)	L89*	probably null	Het
Sh3bp2	T	A	5: 34,718,453 (GRCm39)		probably null	Het
Shank2	A	G	7: 143,960,945 (GRCm39)	T254A	probably benign	Het
Smdt1	A	T	15: 82,231,504 (GRCm39)	E12D	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Taar2	A	G	10: 23,817,345 (GRCm39)	N295S	probably damaging	Het
Trim24	A	G	6: 37,892,208 (GRCm39)	Q247R	probably damaging	Het
Trpc4	T	A	3: 54,209,610 (GRCm39)	N658K	probably damaging	Het
Ube2e1	T	C	14: 18,284,348 (GRCm38)	D137G	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Vmn1r235	A	G	17: 21,482,190 (GRCm39)	T172A	probably benign	Het
Vps13d	A	G	4: 144,882,333 (GRCm39)	F1087L		Het
Xirp2	T	C	2: 67,349,653 (GRCm39)	S3283P	probably damaging	Het
Zeb2	C	A	2: 44,887,158 (GRCm39)	S633I	possibly damaging	Het

Other mutations in Casp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Casp2	APN	6	42,246,219 (GRCm39)	nonsense	probably null
IGL02094:Casp2	APN	6	42,257,293 (GRCm39)	missense	probably damaging	1.00
IGL02371:Casp2	APN	6	42,244,902 (GRCm39)	missense	probably benign	0.00
IGL02414:Casp2	APN	6	42,257,380 (GRCm39)	missense	probably damaging	1.00
IGL03298:Casp2	APN	6	42,245,924 (GRCm39)	splice site	probably benign
R1240:Casp2	UTSW	6	42,245,879 (GRCm39)	missense	probably damaging	1.00
R1424:Casp2	UTSW	6	42,253,725 (GRCm39)	splice site	probably benign
R1672:Casp2	UTSW	6	42,245,842 (GRCm39)	missense	probably damaging	1.00
R4110:Casp2	UTSW	6	42,244,828 (GRCm39)	missense	probably damaging	1.00
R4113:Casp2	UTSW	6	42,244,828 (GRCm39)	missense	probably damaging	1.00
R5062:Casp2	UTSW	6	42,246,206 (GRCm39)	splice site	probably benign
R5469:Casp2	UTSW	6	42,246,268 (GRCm39)	missense	probably benign	0.00
R5835:Casp2	UTSW	6	42,244,520 (GRCm39)	missense	possibly damaging	0.84
R5877:Casp2	UTSW	6	42,253,571 (GRCm39)	intron	probably benign
R6103:Casp2	UTSW	6	42,256,814 (GRCm39)	missense	probably damaging	0.99
R6667:Casp2	UTSW	6	42,256,770 (GRCm39)	missense	probably damaging	1.00
R6702:Casp2	UTSW	6	42,244,985 (GRCm39)	missense	probably benign
R6754:Casp2	UTSW	6	42,246,264 (GRCm39)	missense	probably damaging	1.00
R7141:Casp2	UTSW	6	42,257,329 (GRCm39)	missense	possibly damaging	0.68
R7255:Casp2	UTSW	6	42,245,841 (GRCm39)	missense	probably damaging	1.00
R7611:Casp2	UTSW	6	42,250,972 (GRCm39)	missense	possibly damaging	0.95
R9135:Casp2	UTSW	6	42,245,882 (GRCm39)	missense	probably benign	0.03
X0065:Casp2	UTSW	6	42,257,077 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTTGTAGGGTAACGACATTGCC -3'
(R):5'- GCAATGTTCAGAAACTGGCTGG -3'

Sequencing Primer
(F):5'- CTGTCATCAAGAAGCTCCTGG -3'
(R):5'- CCTTTTACTAGATCGCAGGAAGCAG -3'

Posted On

2022-04-18