Mutagenetix > Incidental Mutations

Incidental Mutation 'R1465:Casp9'

165408

Institutional Source

Beutler Lab

Gene Symbol

Casp9

Ensembl Gene

ENSMUSG00000028914

Gene Name

caspase 9

Synonyms

ICE-LAP6, Mch6, Caspase-9

MMRRC Submission

039519-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1465 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

141793612-141815976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141805840 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 252 (T252K)

Ref Sequence

ENSEMBL: ENSMUSP00000095414 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030747
AA Change: T252K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: T252K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097805
AA Change: T252K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: T252K

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

Coding Region Coverage

1x: 99.2%
3x: 97.3%
10x: 87.6%
20x: 63.2%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,740,566	Y121H	probably damaging	Het
Abca13	G	T	11: 9,399,303	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,284,961	Y192H	probably damaging	Het
Afm	A	T	5: 90,550,341	D534V	probably damaging	Het
Agl	T	C	3: 116,771,372	E1076G	probably benign	Het
Angptl3	A	T	4: 99,037,520	H361L	probably benign	Het
Apob	T	C	12: 8,011,421	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,367,301	C376S	possibly damaging	Het
Ass1	A	G	2: 31,520,416	*413W	probably null	Het
Atp6v1h	T	A	1: 5,095,688	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,829,950	S14F	probably damaging	Het
Birc6	G	A	17: 74,623,858	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,271,021	A589T	possibly damaging	Het
Cct4	G	A	11: 23,002,922	D533N	probably damaging	Het
Clcn6	A	C	4: 148,013,901	I555S	probably damaging	Het
Col4a4	A	T	1: 82,497,822		probably null	Het
Cyp2d10	A	T	15: 82,403,928		probably null	Het
D930048N14Rik	A	G	11: 51,654,913		probably benign	Het
Dlg5	T	C	14: 24,154,696		probably null	Het
Dnah11	T	C	12: 118,038,695	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,866,088	E17G	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,669,322	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034	S212P	probably damaging	Het
Ephb6	T	C	6: 41,616,106	F426S	probably damaging	Het
F5	A	T	1: 164,198,833	D1658V	probably benign	Het
Faah	A	T	4: 115,999,558	V469E	probably damaging	Het
Fas	T	C	19: 34,316,613	C123R	probably damaging	Het
Fhod1	T	C	8: 105,338,914		probably benign	Het
Filip1	A	G	9: 79,898,307	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,157,607	G87S	probably damaging	Het
Gm4737	T	C	16: 46,153,848	K389E	probably benign	Het
Gm5096	T	G	18: 87,757,258	F302V	probably damaging	Het
Golga3	T	C	5: 110,209,878	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,938,444	T281A	probably benign	Het
Grap2	T	A	15: 80,648,411		probably null	Het
Hlcs	T	C	16: 94,268,292	D170G	probably damaging	Het
Hook1	A	G	4: 96,013,256	T484A	probably benign	Het
Hoxa5	T	A	6: 52,203,791	H187L	probably benign	Het
Inpp1	G	T	1: 52,790,094	S255R	probably benign	Het
Inpp4b	T	A	8: 81,768,157	V67E	probably damaging	Het
Iqgap3	A	G	3: 88,087,309	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,469,468		probably null	Het
Klhl1	T	C	14: 96,240,213	N473S	probably benign	Het
Klk1b24	C	A	7: 44,191,361	T71N	probably benign	Het
Loxhd1	A	G	18: 77,380,573		probably null	Het
Lrp1b	C	T	2: 41,111,059	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,025,235	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,107,389	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,500,759	N150S	probably benign	Het
Lrrn4	C	A	2: 132,872,075	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,813,300	S627G	probably damaging	Het
Macf1	A	T	4: 123,493,154	S1224T	probably damaging	Het
Meis2	A	C	2: 116,058,670	H200Q	probably benign	Het
Mesd	C	A	7: 83,895,582	A80E	probably benign	Het
Mroh2a	G	C	1: 88,257,802	E1510D	probably damaging	Het
Myo3a	T	C	2: 22,577,927	F398L	probably benign	Het
Nanp	A	G	2: 151,030,829	C60R	probably benign	Het
Nectin2	T	G	7: 19,730,116	M313L	probably benign	Het
Nek4	C	T	14: 30,956,887	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,408,781	V371A	probably damaging	Het
Olfr1463	T	A	19: 13,234,901	V217E	possibly damaging	Het
Olfr156	A	G	4: 43,820,723	F213L	probably benign	Het
Olfr658	T	C	7: 104,644,946	N140S	probably benign	Het
Olfr740	A	G	14: 50,453,177	T42A	possibly damaging	Het
Pcdh20	T	A	14: 88,469,237	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,504,697	R92H	probably damaging	Het
Pgap1	T	C	1: 54,528,555	H377R	probably benign	Het
Phyhipl	G	T	10: 70,570,968	P52Q	probably damaging	Het
Pwwp2a	T	A	11: 43,705,556	V516E	possibly damaging	Het
Rack1	T	C	11: 48,801,759	V69A	probably damaging	Het
Rexo5	T	A	7: 119,801,358		probably null	Het
Rock1	G	T	18: 10,072,863	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,292,867	L568P	probably damaging	Het
Seh1l	T	C	18: 67,783,984	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,155,843		probably null	Het
Setd1a	T	C	7: 127,788,340		probably benign	Het
Setx	G	T	2: 29,140,389		probably null	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Shc2	G	T	10: 79,631,302	R146S	probably damaging	Het
Skap2	T	C	6: 51,909,368	T5A	probably benign	Het
Slc35a3	T	C	3: 116,687,334	I93M	probably benign	Het
Sohlh1	C	T	2: 25,843,347	G295D	probably damaging	Het
Sult2a8	A	C	7: 14,416,283	C168G	probably benign	Het
Tbc1d4	T	C	14: 101,447,688	I1176V	possibly damaging	Het
Thada	A	T	17: 84,436,676	F735I	possibly damaging	Het
Tle1	A	C	4: 72,139,831	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,153,329	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,617,931	C95F	probably damaging	Het
Uspl1	T	C	5: 149,214,032	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,610,935	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,220,329	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 10,100,322	I263T	probably damaging	Het
Zfp937	T	A	2: 150,239,047	C332*	probably null	Het
Zscan21	T	A	5: 138,125,208	S50T	probably benign	Het

Other mutations in Casp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Casp9	APN	4	141805542	unclassified	probably benign
IGL02357:Casp9	APN	4	141805472	missense	probably benign	0.00
IGL02426:Casp9	APN	4	141812204	splice site	probably null
IGL03027:Casp9	APN	4	141812273	missense	probably benign	0.05
PIT4151001:Casp9	UTSW	4	141793948	nonsense	probably null
R0352:Casp9	UTSW	4	141805530	missense	probably damaging	0.98
R0359:Casp9	UTSW	4	141793910	missense	probably damaging	1.00
R0374:Casp9	UTSW	4	141807173	missense	possibly damaging	0.81
R1465:Casp9	UTSW	4	141805840	missense	probably benign	0.00
R4660:Casp9	UTSW	4	141813623	missense	probably benign
R6020:Casp9	UTSW	4	141796538	missense	probably damaging	0.99
R6137:Casp9	UTSW	4	141805349	splice site	probably null
R6238:Casp9	UTSW	4	141807137	missense	probably damaging	1.00
R6289:Casp9	UTSW	4	141807185	missense	probably damaging	1.00
R7707:Casp9	UTSW	4	141805467	missense	probably benign
R8426:Casp9	UTSW	4	141813625	missense	probably damaging	1.00
R8438:Casp9	UTSW	4	141813623	missense	probably benign	0.31
X0023:Casp9	UTSW	4	141813603	missense	possibly damaging	0.56
Z1088:Casp9	UTSW	4	141805461	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAGAACGACCTGACTGCCAAG -3'
(R):5'- CGCCACTGCCTCTCTAAAGCTAAG -3'

Sequencing Primer
(F):5'- gccacttgacctcttatgcttc -3'
(R):5'- AGAGAGGATGACCACCACAA -3'

Posted On

2014-03-28