Mutagenetix > Incidental Mutation

Incidental Mutation 'R6515:Casp8ap2'

520575

Institutional Source

Beutler Lab

Gene Symbol

Casp8ap2

Ensembl Gene

ENSMUSG00000028282

Gene Name

caspase 8 associated protein 2

Synonyms

FLASH, D4Ertd659e

MMRRC Submission

044642-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6515 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32615462-32653271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32646423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1832 (D1832G)

Ref Sequence

ENSEMBL: ENSMUSP00000136016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029950] [ENSMUST00000108178] [ENSMUST00000178925]

AlphaFold

Q9WUF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029950
AA Change: D1832G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: D1832G

Domain	Start	End	E-Value	Type
coiled coil region	68	142	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	458	477	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1250	1268	N/A	INTRINSIC
low complexity region	1360	1377	N/A	INTRINSIC
low complexity region	1458	1470	N/A	INTRINSIC
low complexity region	1477	1498	N/A	INTRINSIC
low complexity region	1882	1895	N/A	INTRINSIC
PDB:2LR8\|A	1896	1962	1e-31	PDB
Blast:SANT	1905	1955	2e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108178

SMART Domains

Protein: ENSMUSP00000103813
Gene: ENSMUSG00000028282

Domain	Start	End	E-Value	Type
PDB:2LR8\|A	126	190	4e-26	PDB
Blast:SANT	139	183	4e-19	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178925
AA Change: D1832G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: D1832G

Domain	Start	End	E-Value	Type
coiled coil region	68	142	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	458	477	N/A	INTRINSIC
low complexity region	1124	1135	N/A	INTRINSIC
low complexity region	1250	1268	N/A	INTRINSIC
low complexity region	1360	1377	N/A	INTRINSIC
low complexity region	1458	1470	N/A	INTRINSIC
low complexity region	1477	1498	N/A	INTRINSIC
low complexity region	1882	1895	N/A	INTRINSIC
PDB:2LR8\|A	1896	1962	1e-31	PDB
Blast:SANT	1905	1955	2e-21	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for disruption of this gene die before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1s3	T	C	1: 79,592,044 (GRCm39)	D102G	probably damaging	Het
Apcdd1	T	A	18: 63,084,910 (GRCm39)	M369K	probably damaging	Het
Atp4a	A	G	7: 30,411,903 (GRCm39)	K46R	possibly damaging	Het
Bcl9l	A	G	9: 44,419,171 (GRCm39)		probably null	Het
Cabyr	A	G	18: 12,887,340 (GRCm39)	S324G	possibly damaging	Het
Cdk4	C	T	10: 126,902,052 (GRCm39)	P256S	probably null	Het
Cnot6l	C	A	5: 96,309,537 (GRCm39)		probably benign	Het
Cox17	C	A	16: 38,167,557 (GRCm39)	A32E	probably damaging	Het
Cyp27b1	G	T	10: 126,884,119 (GRCm39)		probably benign	Het
Enpp2	T	A	15: 54,723,489 (GRCm39)	N628I	possibly damaging	Het
Ggcx	T	C	6: 72,402,815 (GRCm39)	C258R	probably benign	Het
Hbb-bh1	T	C	7: 103,491,974 (GRCm39)	D80G	probably damaging	Het
Hoxb5	A	T	11: 96,195,908 (GRCm39)	D252V	probably damaging	Het
Hspa4l	A	G	3: 40,736,014 (GRCm39)	D545G	possibly damaging	Het
Hspa5	T	A	2: 34,662,416 (GRCm39)	V28E	probably benign	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kif19b	T	C	5: 140,480,779 (GRCm39)	S970P	possibly damaging	Het
Klra17	A	T	6: 129,808,462 (GRCm39)	I257N	probably damaging	Het
Megf6	C	T	4: 154,343,376 (GRCm39)	H662Y	possibly damaging	Het
Mfsd6	T	C	1: 52,700,120 (GRCm39)	K676R	probably damaging	Het
Nutm1	A	C	2: 112,086,665 (GRCm39)	L22R	probably benign	Het
Oas1f	T	C	5: 120,986,497 (GRCm39)	V150A	probably damaging	Het
Or10ak13	T	C	4: 118,639,467 (GRCm39)	Y105C	probably benign	Het
Or4f62	T	C	2: 111,986,710 (GRCm39)	L138P	probably benign	Het
Pik3ap1	A	G	19: 41,364,585 (GRCm39)	Y45H	probably benign	Het
Pnlip	T	C	19: 58,661,547 (GRCm39)	S79P	probably damaging	Het
Ppfia3	T	C	7: 44,989,657 (GRCm39)	D1185G	possibly damaging	Het
Pphln1-ps1	G	A	16: 13,494,820 (GRCm39)		probably benign	Het
Rbm34	A	T	8: 127,688,682 (GRCm39)	S217T	possibly damaging	Het
Rbm44	T	C	1: 91,092,860 (GRCm39)	I820T	probably damaging	Het
Rnf151	A	T	17: 24,935,391 (GRCm39)	L180Q	probably benign	Het
Sec24d	G	A	3: 123,136,719 (GRCm39)	R484Q	possibly damaging	Het
Spop	C	A	11: 95,376,761 (GRCm39)	D271E	possibly damaging	Het
Svep1	C	T	4: 58,088,280 (GRCm39)	G1723D	probably damaging	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Thap12	A	G	7: 98,356,302 (GRCm39)	E63G	probably damaging	Het
Thsd7a	T	A	6: 12,501,085 (GRCm39)	T441S	possibly damaging	Het
Tle6	G	A	10: 81,427,810 (GRCm39)	H482Y	probably damaging	Het
Tmem184a	A	G	5: 139,794,193 (GRCm39)	F177L	probably benign	Het
Uggt2	A	T	14: 119,315,131 (GRCm39)	S313T	possibly damaging	Het
Unc13a	A	G	8: 72,100,584 (GRCm39)	I1068T	probably benign	Het
Xirp1	T	C	9: 119,845,983 (GRCm39)	R967G	probably benign	Het

Other mutations in Casp8ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:Casp8ap2	APN	4	32,641,433 (GRCm39)	missense	probably damaging	1.00
IGL00714:Casp8ap2	APN	4	32,649,192 (GRCm39)	missense	probably damaging	1.00
IGL00754:Casp8ap2	APN	4	32,641,036 (GRCm39)	missense	probably benign	0.00
IGL00954:Casp8ap2	APN	4	32,645,403 (GRCm39)	missense	probably damaging	1.00
IGL00970:Casp8ap2	APN	4	32,646,182 (GRCm39)	missense	probably benign
IGL01534:Casp8ap2	APN	4	32,648,134 (GRCm39)	splice site	probably benign
IGL01596:Casp8ap2	APN	4	32,646,365 (GRCm39)	missense	probably damaging	1.00
IGL01686:Casp8ap2	APN	4	32,641,294 (GRCm39)	missense	possibly damaging	0.94
IGL02002:Casp8ap2	APN	4	32,639,391 (GRCm39)	missense	probably damaging	1.00
IGL02273:Casp8ap2	APN	4	32,643,974 (GRCm39)	missense	probably damaging	1.00
IGL02510:Casp8ap2	APN	4	32,639,704 (GRCm39)	missense	probably benign	0.05
IGL02600:Casp8ap2	APN	4	32,630,246 (GRCm39)	missense	probably null	1.00
IGL02929:Casp8ap2	APN	4	32,624,105 (GRCm39)	utr 5 prime	probably benign
F5770:Casp8ap2	UTSW	4	32,639,944 (GRCm39)	missense	probably benign	0.00
IGL02988:Casp8ap2	UTSW	4	32,644,590 (GRCm39)	missense	probably benign	0.14
R0023:Casp8ap2	UTSW	4	32,640,185 (GRCm39)	missense	probably damaging	0.99
R0027:Casp8ap2	UTSW	4	32,643,810 (GRCm39)	missense	probably benign	0.01
R0090:Casp8ap2	UTSW	4	32,640,327 (GRCm39)	missense	probably damaging	1.00
R0117:Casp8ap2	UTSW	4	32,640,817 (GRCm39)	missense	probably benign	0.00
R0144:Casp8ap2	UTSW	4	32,643,797 (GRCm39)	missense	possibly damaging	0.50
R0268:Casp8ap2	UTSW	4	32,644,079 (GRCm39)	missense	probably damaging	0.99
R0344:Casp8ap2	UTSW	4	32,644,079 (GRCm39)	missense	probably damaging	0.99
R0555:Casp8ap2	UTSW	4	32,640,381 (GRCm39)	missense	probably damaging	1.00
R1051:Casp8ap2	UTSW	4	32,640,790 (GRCm39)	missense	probably benign	0.28
R1165:Casp8ap2	UTSW	4	32,640,563 (GRCm39)	missense	probably benign	0.01
R1243:Casp8ap2	UTSW	4	32,645,687 (GRCm39)	missense	probably benign	0.03
R1311:Casp8ap2	UTSW	4	32,648,111 (GRCm39)	missense	probably damaging	0.98
R1337:Casp8ap2	UTSW	4	32,645,721 (GRCm39)	missense	possibly damaging	0.64
R1471:Casp8ap2	UTSW	4	32,639,386 (GRCm39)	nonsense	probably null
R1497:Casp8ap2	UTSW	4	32,639,938 (GRCm39)	missense	probably benign	0.00
R1521:Casp8ap2	UTSW	4	32,631,867 (GRCm39)	missense	probably damaging	1.00
R1588:Casp8ap2	UTSW	4	32,640,541 (GRCm39)	missense	probably benign	0.00
R1625:Casp8ap2	UTSW	4	32,648,068 (GRCm39)	missense	probably benign	0.04
R1731:Casp8ap2	UTSW	4	32,641,442 (GRCm39)	missense	possibly damaging	0.94
R1899:Casp8ap2	UTSW	4	32,643,647 (GRCm39)	missense	probably damaging	0.98
R2000:Casp8ap2	UTSW	4	32,634,874 (GRCm39)	missense	probably damaging	1.00
R2021:Casp8ap2	UTSW	4	32,644,560 (GRCm39)	missense	probably benign	0.05
R2022:Casp8ap2	UTSW	4	32,644,560 (GRCm39)	missense	probably benign	0.05
R2023:Casp8ap2	UTSW	4	32,644,560 (GRCm39)	missense	probably benign	0.05
R2088:Casp8ap2	UTSW	4	32,631,126 (GRCm39)	missense	probably damaging	1.00
R2104:Casp8ap2	UTSW	4	32,644,727 (GRCm39)	missense	probably benign	0.00
R2128:Casp8ap2	UTSW	4	32,640,142 (GRCm39)	missense	probably benign	0.06
R2129:Casp8ap2	UTSW	4	32,640,142 (GRCm39)	missense	probably benign	0.06
R2305:Casp8ap2	UTSW	4	32,646,411 (GRCm39)	missense	probably damaging	1.00
R2316:Casp8ap2	UTSW	4	32,643,781 (GRCm39)	missense	probably benign	0.31
R2919:Casp8ap2	UTSW	4	32,645,343 (GRCm39)	missense	probably damaging	1.00
R4091:Casp8ap2	UTSW	4	32,643,611 (GRCm39)	missense	probably damaging	1.00
R4357:Casp8ap2	UTSW	4	32,646,150 (GRCm39)	missense	probably benign	0.00
R4807:Casp8ap2	UTSW	4	32,644,505 (GRCm39)	missense	possibly damaging	0.89
R4828:Casp8ap2	UTSW	4	32,639,807 (GRCm39)	missense	probably benign
R4908:Casp8ap2	UTSW	4	32,639,905 (GRCm39)	missense	possibly damaging	0.90
R4945:Casp8ap2	UTSW	4	32,631,163 (GRCm39)	missense	possibly damaging	0.57
R4962:Casp8ap2	UTSW	4	32,640,554 (GRCm39)	missense	probably damaging	0.99
R6014:Casp8ap2	UTSW	4	32,641,400 (GRCm39)	missense	probably damaging	0.97
R6092:Casp8ap2	UTSW	4	32,639,380 (GRCm39)	missense	probably damaging	1.00
R6257:Casp8ap2	UTSW	4	32,641,364 (GRCm39)	missense	possibly damaging	0.94
R6289:Casp8ap2	UTSW	4	32,639,590 (GRCm39)	missense	probably damaging	1.00
R6482:Casp8ap2	UTSW	4	32,634,813 (GRCm39)	missense	probably damaging	1.00
R6496:Casp8ap2	UTSW	4	32,641,553 (GRCm39)	missense	probably benign	0.05
R7015:Casp8ap2	UTSW	4	32,644,278 (GRCm39)	missense	probably damaging	1.00
R7033:Casp8ap2	UTSW	4	32,639,392 (GRCm39)	missense	probably damaging	1.00
R7072:Casp8ap2	UTSW	4	32,644,766 (GRCm39)	missense	probably damaging	1.00
R7448:Casp8ap2	UTSW	4	32,643,974 (GRCm39)	missense	possibly damaging	0.84
R7944:Casp8ap2	UTSW	4	32,645,909 (GRCm39)	missense	probably benign	0.12
R7945:Casp8ap2	UTSW	4	32,645,909 (GRCm39)	missense	probably benign	0.12
R8170:Casp8ap2	UTSW	4	32,615,490 (GRCm39)	splice site	probably benign
R8179:Casp8ap2	UTSW	4	32,643,939 (GRCm39)	nonsense	probably null
R8207:Casp8ap2	UTSW	4	32,646,446 (GRCm39)	missense	possibly damaging	0.63
R8263:Casp8ap2	UTSW	4	32,644,072 (GRCm39)	missense	probably damaging	1.00
R8298:Casp8ap2	UTSW	4	32,640,429 (GRCm39)	missense	probably benign	0.30
R9441:Casp8ap2	UTSW	4	32,645,873 (GRCm39)	missense	probably benign	0.00
R9455:Casp8ap2	UTSW	4	32,643,924 (GRCm39)	missense	possibly damaging	0.85
R9729:Casp8ap2	UTSW	4	32,643,807 (GRCm39)	missense	possibly damaging	0.71
V7580:Casp8ap2	UTSW	4	32,639,944 (GRCm39)	missense	probably benign	0.00
X0018:Casp8ap2	UTSW	4	32,643,738 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGGCAAACAGTCCTTTAGAAAG -3'
(R):5'- TTGCAGAAAGGCTTGCTGGG -3'

Sequencing Primer
(F):5'- ACTTGTATTGATTTGACCTCAGAGTC -3'
(R):5'- CTGGGGAAGCAGCAAGTACTG -3'

Posted On

2018-06-06