Mutagenetix > Incidental Mutation

Incidental Mutation 'R7608:Casp3'

588442

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

045678-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47070326-47092724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47087368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 105 (I105K)

Ref Sequence

ENSEMBL: ENSMUSP00000147700 (fasta)

Gene Model

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

AlphaFold

P70677

Predicted Effect

probably benign
Transcript: ENSMUST00000093517

SMART Domains

Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210534
AA Change: I105K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211115

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,347 (GRCm39)	F311S	probably benign	Het
Adamts7	C	A	9: 90,055,826 (GRCm39)	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,397,457 (GRCm39)	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,252 (GRCm39)	T151M	probably damaging	Het
Atosb	A	G	4: 43,036,533 (GRCm39)	L66P	probably damaging	Het
Atrnl1	T	A	19: 57,703,119 (GRCm39)	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,564,022 (GRCm39)	S902P	probably damaging	Het
Ccdc146	C	T	5: 21,506,450 (GRCm39)	V664I	probably benign	Het
Cfap61	G	A	2: 145,805,451 (GRCm39)	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,764,399 (GRCm39)		probably null	Het
Dnah11	G	T	12: 118,104,505 (GRCm39)		probably null	Het
Duox1	C	A	2: 122,156,616 (GRCm39)	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fan1	A	T	7: 64,003,979 (GRCm39)		probably null	Het
Fgfrl1	A	T	5: 108,853,211 (GRCm39)	K278M	probably damaging	Het
Fign	T	C	2: 63,809,063 (GRCm39)	I736V	possibly damaging	Het
Galns	A	G	8: 123,318,184 (GRCm39)	F410S	probably benign	Het
Hspbp1	C	A	7: 4,663,821 (GRCm39)	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,122,900 (GRCm39)	S296R	probably damaging	Het
Ifi44	A	G	3: 151,438,045 (GRCm39)	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,577,731 (GRCm39)	M690L	probably benign	Het
Ldaf1	A	G	7: 119,704,011 (GRCm39)	K19E	probably damaging	Het
Lrrc49	C	T	9: 60,510,005 (GRCm39)	G488S	probably null	Het
Mcc	T	C	18: 44,624,294 (GRCm39)	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571 (GRCm39)		probably null	Het
Mtcl1	T	C	17: 66,650,300 (GRCm39)	R1722G	probably damaging	Het
Or4a79	A	G	2: 89,551,642 (GRCm39)	V271A	probably benign	Het
Or51f23c-ps1	A	G	7: 102,431,132 (GRCm39)	I150V	probably benign	Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or8d2	T	A	9: 38,759,806 (GRCm39)	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,128,713 (GRCm39)	E651G	probably damaging	Het
Pop5	A	G	5: 115,375,931 (GRCm39)		probably benign	Het
Prox1	T	A	1: 189,885,642 (GRCm39)	M602L	probably benign	Het
Prpf39	G	A	12: 65,100,220 (GRCm39)	A298T	probably benign	Het
Scg2	T	C	1: 79,413,898 (GRCm39)	E275G	probably benign	Het
Scn11a	A	T	9: 119,644,379 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,210,443 (GRCm39)	Y371F	probably damaging	Het
Slc4a1ap	T	A	5: 31,693,533 (GRCm39)	M489K	possibly damaging	Het
Spata13	A	G	14: 60,929,956 (GRCm39)	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,928,156 (GRCm39)	N31S	probably damaging	Het
Tnn	A	T	1: 159,915,984 (GRCm39)	Y1508*	probably null	Het
Trim23	T	C	13: 104,328,541 (GRCm39)	V354A	probably benign	Het
Tsc1	A	T	2: 28,548,748 (GRCm39)	T18S	probably benign	Het
Txlnb	A	G	10: 17,691,146 (GRCm39)	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,201,104 (GRCm39)	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,181,290 (GRCm39)	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,276 (GRCm39)	I99T	probably benign	Het
Zfp318	T	G	17: 46,710,935 (GRCm39)	V886G	probably damaging	Het
Zfp760	A	G	17: 21,941,797 (GRCm39)	N324S	probably benign	Het
Zfp819	T	C	7: 43,266,357 (GRCm39)	V280A	probably benign	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
R6847:Casp3	UTSW	8	47,089,301 (GRCm39)	missense	probably benign	0.00
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
R7682:Casp3	UTSW	8	47,085,420 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTAAAATGCAACTAAGAGCTCTCTC -3'
(R):5'- TGTGTAAGGATGCGGACTGC -3'

Sequencing Primer
(F):5'- CTCTCTGTCCCAAGGAATGTC -3'
(R):5'- TGCTGGATCCTGCTAGCAG -3'

Posted On

2019-10-24