Mutagenetix > Incidental Mutation

Incidental Mutation 'R6496:Casp8ap2'

523007

Institutional Source

Beutler Lab

Gene Symbol

Casp8ap2

Ensembl Gene

ENSMUSG00000028282

Gene Name

caspase 8 associated protein 2

Synonyms

FLASH, D4Ertd659e

MMRRC Submission

044628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6496 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32615462-32653271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32641553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 869 (H869P)

Ref Sequence

ENSEMBL: ENSMUSP00000136016 (fasta)

Gene Model

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

AlphaFold

Q9WUF3

Predicted Effect

probably benign
Transcript: ENSMUST00000029950
AA Change: H869P

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: H869P

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

noncoding transcript
Transcript: ENSMUST00000127619

Predicted Effect

probably benign
Transcript: ENSMUST00000178925
AA Change: H869P

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: H869P

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (36/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,545,217 (GRCm39)	T79S	probably benign	Het
Atp2b1	T	A	10: 98,839,199 (GRCm39)	C676S	probably damaging	Het
Atp8b5	T	C	4: 43,371,003 (GRCm39)	F1047L	probably benign	Het
B3gnt4	G	A	5: 123,649,654 (GRCm39)	E340K	probably benign	Het
Cdh26	G	A	2: 178,091,654 (GRCm39)	G71D	probably damaging	Het
Col4a2	G	T	8: 11,452,993 (GRCm39)	G187*	probably null	Het
Col4a2	G	T	8: 11,452,994 (GRCm39)	G187V	probably damaging	Het
Dsn1	A	G	2: 156,847,187 (GRCm39)	S84P	probably damaging	Het
Edaradd	T	A	13: 12,493,323 (GRCm39)	D123V	probably damaging	Het
Epb41l1	T	C	2: 156,375,716 (GRCm39)	S611P	possibly damaging	Het
Fam217a	G	A	13: 35,094,785 (GRCm39)	R234*	probably null	Het
Gm17175	A	G	14: 51,810,534 (GRCm39)	I31T	probably benign	Het
Jtb	T	C	3: 90,141,264 (GRCm39)	V80A	possibly damaging	Het
Kera	T	A	10: 97,448,672 (GRCm39)	N297K	probably benign	Het
Klhl1	T	C	14: 96,477,652 (GRCm39)	N472S	probably benign	Het
Lgmn	T	C	12: 102,364,498 (GRCm39)	T324A	probably benign	Het
Ndst3	A	G	3: 123,346,201 (GRCm39)	I276T	probably damaging	Het
Nsd2	A	G	5: 34,000,857 (GRCm39)	K125E	probably damaging	Het
Or10ag59	A	C	2: 87,405,460 (GRCm39)	N11H	probably damaging	Het
Or6c33	T	A	10: 129,853,448 (GRCm39)	S73T	probably benign	Het
Patj	C	A	4: 98,304,989 (GRCm39)	A281E	probably damaging	Het
Pcdha7	A	G	18: 37,107,638 (GRCm39)	E221G	possibly damaging	Het
Plcd1	A	G	9: 118,901,709 (GRCm39)	F605S	possibly damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Pmfbp1	A	G	8: 110,258,789 (GRCm39)	K698R	probably null	Het
Potefam1	T	A	2: 110,994,817 (GRCm39)	H232L	unknown	Het
Psd	G	A	19: 46,308,753 (GRCm39)	R628C	probably damaging	Het
Sipa1l2	T	C	8: 126,176,633 (GRCm39)	N1211S	probably benign	Het
Slc1a3	T	A	15: 8,679,065 (GRCm39)	M177L	probably benign	Het
Slc34a1	T	C	13: 55,550,495 (GRCm39)	S183P	probably benign	Het
Spata22	G	A	11: 73,231,189 (GRCm39)	G148R	probably damaging	Het
Spata31f1a	G	T	4: 42,848,424 (GRCm39)	T1244K	probably damaging	Het
Tfap2a	T	C	13: 40,882,251 (GRCm39)	D18G	probably damaging	Het
Thoc7	T	C	14: 13,954,593 (GRCm38)	N28S	possibly damaging	Het
Usp42	T	C	5: 143,700,858 (GRCm39)	Y1055C	probably damaging	Het
Zfp874a	A	G	13: 67,590,694 (GRCm39)	V330A	possibly damaging	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
R6515:Casp8ap2	UTSW	4	32,646,423 (GRCm39)	missense	possibly damaging	0.64
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'- TTCACCACAGAAGACTGAGTTG -3'
(R):5'- GTGGTTTAAACTTAAAGGCTCAGAG -3'

Sequencing Primer
(F):5'- CCACAGAAGACTGAGTTGATTGACC -3'
(R):5'- CAGACCCCATGTAAAGGTGTTCTAG -3'

Posted On

2018-06-06