Mutagenetix > Incidental Mutation

Incidental Mutation 'R6847:Casp3'

534814

Institutional Source

Beutler Lab

Gene Symbol

Casp3

Ensembl Gene

ENSMUSG00000031628

Gene Name

caspase 3

Synonyms

AC-3, Apopain, Caspase-3, CPP32, Yama, A830040C14Rik, CC3, mldy

MMRRC Submission

045021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47070326-47092724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47089301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 183 (A183V)

Ref Sequence

ENSEMBL: ENSMUSP00000147767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093517] [ENSMUST00000210534] [ENSMUST00000211115]

AlphaFold

P70677

Predicted Effect

probably benign
Transcript: ENSMUST00000093517
AA Change: A183V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628
AA Change: A183V

Domain	Start	End	E-Value	Type
CASc	36	277	9.95e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210534

Predicted Effect

probably benign
Transcript: ENSMUST00000211115
AA Change: A183V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: This gene encodes a protein that belongs to a highly conserved family of cysteinyl aspartate-specific proteases that function as essential regulators of programmed cell death through apoptosis. Members of this family contain an N-terminal pro-domain and require cleavage at specific aspartate residues to become mature. The protein encoded by this gene belongs to a subgroup of cysteinyl aspartate-specific proteases that are activated by initiator caspases and that perform the proteolytic cleavage of apoptotic target proteins. Mice defective for this gene exhibit a variety of phenotypes including reduced neuronal apoptosis resulting in hyperplasias, hearing loss, attenuated osteogenic differentiation of bone marrow stromal stem cells, and pre- and post-natal lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Some homozygous animals show defects in brain development by embryonic day 12, reduced neuronal apoptosis causing hyperplasias, and pre- and postnatal lethality. Other homozygous animals exhibit only hearing loss, inner ear defects and degeneration of spiral ganglion neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,021,465 (GRCm39)	I675T	probably benign	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ak9	A	G	10: 41,233,797 (GRCm39)		probably null	Het
Akr1c6	T	A	13: 4,488,497 (GRCm39)	C34*	probably null	Het
Akt3	G	A	1: 176,859,225 (GRCm39)	P449S	probably damaging	Het
Atg2b	A	T	12: 105,602,047 (GRCm39)	V1643E	probably damaging	Het
Atp2c1	T	C	9: 105,295,778 (GRCm39)	I819V	probably damaging	Het
Cdk1	A	T	10: 69,174,358 (GRCm39)	D288E	probably benign	Het
Cep131	G	A	11: 119,956,517 (GRCm39)	R944W	probably damaging	Het
Cep290	A	G	10: 100,399,281 (GRCm39)	K2268E	probably damaging	Het
Crybg2	A	G	4: 133,792,857 (GRCm39)	E164G	probably benign	Het
Cubn	A	C	2: 13,449,064 (GRCm39)		probably null	Het
Dnajc14	A	T	10: 128,652,656 (GRCm39)	E571D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eef1b2	A	G	1: 63,217,648 (GRCm39)	E44G	probably benign	Het
Eml6	C	T	11: 29,768,447 (GRCm39)	V747I	probably benign	Het
Ext1	T	G	15: 53,208,550 (GRCm39)	Q70H	probably benign	Het
Gbp2b	T	A	3: 142,303,940 (GRCm39)	C12S	probably damaging	Het
Gbp8	A	C	5: 105,179,093 (GRCm39)	D135E	probably benign	Het
Gm12886	A	T	4: 121,273,916 (GRCm39)	L100*	probably null	Het
Gpatch1	A	T	7: 34,992,983 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,588,925 (GRCm39)	M34L	probably benign	Het
Il12a	G	T	3: 68,602,899 (GRCm39)	D160Y	probably damaging	Het
Klhl2	A	G	8: 65,212,816 (GRCm39)	L241P	probably damaging	Het
Krt80	T	C	15: 101,256,610 (GRCm39)	E195G	probably benign	Het
Lgi1	T	C	19: 38,289,738 (GRCm39)	V268A	probably damaging	Het
Lrrfip1	A	T	1: 91,032,850 (GRCm39)	D216V	probably damaging	Het
Meis3	A	G	7: 15,917,789 (GRCm39)	N314S	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,965,451 (GRCm39)	I1119F	possibly damaging	Het
Nav2	A	T	7: 49,141,204 (GRCm39)	Q916H	probably benign	Het
Ncam2	A	T	16: 81,229,606 (GRCm39)	Q22L	probably damaging	Het
Or5b118	A	T	19: 13,448,402 (GRCm39)	I23F	probably benign	Het
P2rx4	G	A	5: 122,865,814 (GRCm39)	V329M	probably damaging	Het
Peg10	A	G	6: 4,754,279 (GRCm39)		probably benign	Het
Pgp	T	C	17: 24,690,375 (GRCm39)	L267P	probably damaging	Het
Pou2af2	G	A	9: 51,201,504 (GRCm39)	T184M	probably damaging	Het
Prdm2	A	C	4: 142,859,520 (GRCm39)	S1257A	probably benign	Het
Prr12	T	C	7: 44,695,164 (GRCm39)	N1434S	unknown	Het
Psmc3ip	A	T	11: 100,985,999 (GRCm39)	H40Q	probably damaging	Het
Ptprc	A	T	1: 138,016,283 (GRCm39)	N526K	probably damaging	Het
Sec63	T	A	10: 42,667,249 (GRCm39)	D138E	probably damaging	Het
Serpinb13	A	G	1: 106,926,663 (GRCm39)	N220D	probably benign	Het
Siva1	G	A	12: 112,611,344 (GRCm39)		probably benign	Het
Slc39a12	A	G	2: 14,454,728 (GRCm39)	H546R	probably damaging	Het
Slc7a1	G	A	5: 148,271,468 (GRCm39)	A497V	probably benign	Het
Smg5	G	T	3: 88,249,859 (GRCm39)	K95N	probably damaging	Het
Speer1a	G	A	5: 11,394,134 (GRCm39)	V78M	probably damaging	Het
Traj50	T	A	14: 54,405,101 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,813,472 (GRCm39)	V1261A	probably damaging	Het
Zc3h11a	A	T	1: 133,566,700 (GRCm39)		probably null	Het

Other mutations in Casp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Casp3	APN	8	47,082,776 (GRCm39)	utr 5 prime	probably benign
warner	UTSW	8	47,088,423 (GRCm39)	missense	probably damaging	1.00
R0601:Casp3	UTSW	8	47,089,262 (GRCm39)	missense	probably benign	0.00
R1541:Casp3	UTSW	8	47,087,369 (GRCm39)	missense	probably benign	0.02
R1648:Casp3	UTSW	8	47,091,109 (GRCm39)	missense	probably benign
R2046:Casp3	UTSW	8	47,082,761 (GRCm39)	splice site	probably benign
R2159:Casp3	UTSW	8	47,087,323 (GRCm39)	missense	probably damaging	1.00
R2176:Casp3	UTSW	8	47,082,791 (GRCm39)	missense	probably damaging	1.00
R2251:Casp3	UTSW	8	47,090,990 (GRCm39)	missense	probably damaging	0.98
R2252:Casp3	UTSW	8	47,090,990 (GRCm39)	missense	probably damaging	0.98
R2253:Casp3	UTSW	8	47,090,990 (GRCm39)	missense	probably damaging	0.98
R4095:Casp3	UTSW	8	47,087,251 (GRCm39)	missense	probably damaging	1.00
R4209:Casp3	UTSW	8	47,088,423 (GRCm39)	missense	probably damaging	1.00
R4211:Casp3	UTSW	8	47,088,423 (GRCm39)	missense	probably damaging	1.00
R4868:Casp3	UTSW	8	47,087,314 (GRCm39)	missense	probably benign	0.01
R5713:Casp3	UTSW	8	47,089,349 (GRCm39)	missense	probably damaging	1.00
R6957:Casp3	UTSW	8	47,087,308 (GRCm39)	missense	probably damaging	1.00
R7196:Casp3	UTSW	8	47,088,498 (GRCm39)	missense	possibly damaging	0.94
R7608:Casp3	UTSW	8	47,087,368 (GRCm39)	missense	probably benign
R7682:Casp3	UTSW	8	47,085,420 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGAATCTAGAGTACATCACAGTGT -3'
(R):5'- ATGTAAGGGTACTTTTGTAAAGGGTAT -3'

Sequencing Primer
(F):5'- AGGCATTTCCTCAAGGGAGATTCC -3'
(R):5'- CTGCTCAGCTTCATAATGTG -3'

Posted On

2018-09-12