Mutagenetix > Incidental Mutation

Incidental Mutation 'R0374:Casp9'

38507

Institutional Source

Beutler Lab

Gene Symbol

Casp9

Ensembl Gene

ENSMUSG00000028914

Gene Name

caspase 9

Synonyms

Caspase-9, Mch6, ICE-LAP6

MMRRC Submission

038580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141520923-141543287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141534484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 298 (I298N)

Ref Sequence

ENSEMBL: ENSMUSP00000030747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000097805] [ENSMUST00000153094]

AlphaFold

Q8C3Q9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030747
AA Change: I298N

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: I298N

Domain	Start	End	E-Value	Type
CARD	1	91	2.99e-32	SMART
CASc	190	453	4.64e-111	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097805
AA Change: I298N

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: I298N

Domain	Start	End	E-Value	Type
CARD	1	91	2.99e-32	SMART
CASc	190	402	6.58e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153094

SMART Domains

Protein: ENSMUSP00000121331
Gene: ENSMUSG00000028914

Domain	Start	End	E-Value	Type
CARD	1	90	3.83e-30	SMART
PDB:2AR9\|D	182	214	6e-10	PDB
Blast:CASc	189	215	2e-10	BLAST

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, the initiator caspase, is activated after cytochrome c release from mitochondria and targets downstream effectors. In mouse, deficiency of this gene can cause perinatal lethality. This protein may have a role in normal brain development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous targeted mutants die perinatally with enlarged and malformed cerebrums caused by reduced apoptosis during brain development. Broad system- and stimulus-dependent effects are seen on apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,687,727 (GRCm39)	I267T	probably damaging	Het
Anxa6	T	A	11: 54,896,654 (GRCm39)	N168I	probably benign	Het
Apbb1ip	A	G	2: 22,709,717 (GRCm39)		probably benign	Het
Aqr	G	A	2: 113,961,092 (GRCm39)	H723Y	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Car13	A	G	3: 14,721,357 (GRCm39)		probably benign	Het
Ccdc66	T	C	14: 27,220,430 (GRCm39)	E261G	probably damaging	Het
Cep192	T	A	18: 67,951,954 (GRCm39)	Y376*	probably null	Het
Cped1	T	A	6: 22,222,545 (GRCm39)		probably benign	Het
Ctbp2	A	T	7: 132,601,073 (GRCm39)	S563R	possibly damaging	Het
Ctdp1	A	G	18: 80,490,637 (GRCm39)		probably null	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Drd2	A	G	9: 49,311,084 (GRCm39)	T112A	probably benign	Het
Dusp1	A	G	17: 26,727,143 (GRCm39)	V52A	probably damaging	Het
Eea1	T	A	10: 95,875,634 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,288 (GRCm39)	V86A	probably benign	Het
Fbn1	A	T	2: 125,163,596 (GRCm39)	C2087S	possibly damaging	Het
Fosb	T	G	7: 19,041,075 (GRCm39)	R139S	probably damaging	Het
Foxm1	C	T	6: 128,349,566 (GRCm39)	R362W	probably damaging	Het
Frem2	A	G	3: 53,561,381 (GRCm39)	V1042A	probably damaging	Het
Gbe1	A	G	16: 70,280,802 (GRCm39)	H401R	probably benign	Het
Gm10549	C	T	18: 33,597,235 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,251,758 (GRCm39)		probably benign	Het
H2-DMb1	T	C	17: 34,378,399 (GRCm39)	V235A	probably benign	Het
Hr	A	G	14: 70,793,916 (GRCm39)	T59A	probably benign	Het
Itpr2	C	A	6: 146,260,890 (GRCm39)	A588S	probably benign	Het
Kmt2c	G	A	5: 25,514,706 (GRCm39)	P3046S	probably damaging	Het
Lamc1	G	A	1: 153,126,811 (GRCm39)		probably benign	Het
Lrp2	A	G	2: 69,260,651 (GRCm39)	Y4527H	probably damaging	Het
Map3k2	G	A	18: 32,345,226 (GRCm39)		probably null	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Nfs1	C	G	2: 155,974,580 (GRCm39)	G212R	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nrap	T	A	19: 56,340,054 (GRCm39)	Y740F	probably damaging	Het
Nup205	T	A	6: 35,185,772 (GRCm39)	M859K	probably damaging	Het
Nxf1	T	C	19: 8,745,103 (GRCm39)	F451S	possibly damaging	Het
Or5an1c	A	T	19: 12,218,505 (GRCm39)	N173K	probably damaging	Het
Or6c6c	G	A	10: 129,541,516 (GRCm39)	M256I	probably benign	Het
Pcdhac2	T	C	18: 37,278,720 (GRCm39)	Y567H	probably damaging	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pi4ka	A	G	16: 17,100,796 (GRCm39)		probably benign	Het
Pmpcb	A	G	5: 21,953,829 (GRCm39)	D359G	probably damaging	Het
Poll	T	G	19: 45,546,309 (GRCm39)	S244R	probably benign	Het
Prkd3	T	C	17: 79,264,644 (GRCm39)	D657G	probably null	Het
Prune2	G	A	19: 17,098,274 (GRCm39)	M1259I	probably benign	Het
Ptpra	T	A	2: 130,379,541 (GRCm39)	M329K	probably damaging	Het
Rbm10	GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	X: 20,503,798 (GRCm39)		probably benign	Het
Rbm15	G	T	3: 107,237,880 (GRCm39)	D839E	probably damaging	Het
Sap30bp	T	A	11: 115,855,103 (GRCm39)	I271N	probably damaging	Het
Scart2	T	A	7: 139,828,874 (GRCm39)	C178S	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setdb1	A	T	3: 95,232,164 (GRCm39)		probably benign	Het
Sgk3	T	A	1: 9,949,306 (GRCm39)		probably null	Het
Shox2	A	T	3: 66,881,184 (GRCm39)	H265Q	probably damaging	Het
Slc9a2	T	C	1: 40,783,017 (GRCm39)	F427S	possibly damaging	Het
Smarca5	T	A	8: 81,463,360 (GRCm39)	Q69H	probably benign	Het
Specc1l	T	A	10: 75,084,293 (GRCm39)	F672Y	probably damaging	Het
Ssh2	T	A	11: 77,298,969 (GRCm39)	S105R	probably damaging	Het
Syne2	C	T	12: 75,968,000 (GRCm39)	R917*	probably null	Het
Tbc1d2	G	A	4: 46,649,913 (GRCm39)	T41M	possibly damaging	Het
Tbx18	T	A	9: 87,606,408 (GRCm39)	I246F	probably damaging	Het
Tcf4	T	A	18: 69,814,883 (GRCm39)		probably benign	Het
Tmed2	C	A	5: 124,679,502 (GRCm39)		probably null	Het
Tmem243	A	T	5: 9,151,361 (GRCm39)	D15V	possibly damaging	Het
Vmn2r87	T	A	10: 130,307,848 (GRCm39)	S797C	probably damaging	Het
Vps13c	T	A	9: 67,793,528 (GRCm39)		probably benign	Het
Wls	T	A	3: 159,603,074 (GRCm39)	C162*	probably null	Het
Zbtb7c	C	T	18: 76,270,464 (GRCm39)	T184I	probably benign	Het
Zc3h13	A	G	14: 75,546,405 (GRCm39)	K169E	probably damaging	Het

Other mutations in Casp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Casp9	APN	4	141,532,853 (GRCm39)	unclassified	probably benign
IGL02357:Casp9	APN	4	141,532,783 (GRCm39)	missense	probably benign	0.00
IGL02426:Casp9	APN	4	141,539,515 (GRCm39)	splice site	probably null
IGL03027:Casp9	APN	4	141,539,584 (GRCm39)	missense	probably benign	0.05
PIT4151001:Casp9	UTSW	4	141,521,259 (GRCm39)	nonsense	probably null
R0352:Casp9	UTSW	4	141,532,841 (GRCm39)	missense	probably damaging	0.98
R0359:Casp9	UTSW	4	141,521,221 (GRCm39)	missense	probably damaging	1.00
R1465:Casp9	UTSW	4	141,533,151 (GRCm39)	missense	probably benign	0.00
R1465:Casp9	UTSW	4	141,533,151 (GRCm39)	missense	probably benign	0.00
R4660:Casp9	UTSW	4	141,540,934 (GRCm39)	missense	probably benign
R6020:Casp9	UTSW	4	141,523,849 (GRCm39)	missense	probably damaging	0.99
R6137:Casp9	UTSW	4	141,532,660 (GRCm39)	splice site	probably null
R6238:Casp9	UTSW	4	141,534,448 (GRCm39)	missense	probably damaging	1.00
R6289:Casp9	UTSW	4	141,534,496 (GRCm39)	missense	probably damaging	1.00
R7707:Casp9	UTSW	4	141,532,778 (GRCm39)	missense	probably benign
R8426:Casp9	UTSW	4	141,540,936 (GRCm39)	missense	probably damaging	1.00
R8438:Casp9	UTSW	4	141,540,934 (GRCm39)	missense	probably benign	0.31
R9287:Casp9	UTSW	4	141,534,471 (GRCm39)	missense	probably benign	0.01
X0023:Casp9	UTSW	4	141,540,914 (GRCm39)	missense	possibly damaging	0.56
Z1088:Casp9	UTSW	4	141,532,772 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATAGGTGCTGACCCGTCTACTCC -3'
(R):5'- AGATGTGTAGAGAAGCCCACTGACC -3'

Sequencing Primer
(F):5'- GACCCGTCTACTCCATCTTGG -3'
(R):5'- ACCCAGTGAGGGGCTAAC -3'

Posted On

2013-05-23