Incidental Mutation 'R9729:Casp8ap2'
ID 731211
Institutional Source Beutler Lab
Gene Symbol Casp8ap2
Ensembl Gene ENSMUSG00000028282
Gene Name caspase 8 associated protein 2
Synonyms FLASH, D4Ertd659e
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 32615462-32653271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32643807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 960 (V960E)
Ref Sequence ENSEMBL: ENSMUSP00000029950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029950] [ENSMUST00000108178] [ENSMUST00000178925]
AlphaFold Q9WUF3
Predicted Effect possibly damaging
Transcript: ENSMUST00000029950
AA Change: V960E

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: V960E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:2LR8|A 126 190 4e-26 PDB
Blast:SANT 139 183 4e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000178925
AA Change: V960E

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: V960E

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,700,519 (GRCm39) M273K probably benign Het
Aar2 A G 2: 156,393,361 (GRCm39) D250G probably benign Het
Acly T A 11: 100,407,711 (GRCm39) Y213F probably benign Het
Adgrg5 G A 8: 95,668,133 (GRCm39) M399I Het
Adhfe1 T C 1: 9,623,634 (GRCm39) L95P probably damaging Het
Ano7 G A 1: 93,322,180 (GRCm39) C396Y probably damaging Het
Apob T A 12: 8,066,125 (GRCm39) Y4365N probably damaging Het
Arfgap3 C T 15: 83,192,366 (GRCm39) R411H probably damaging Het
Bbs7 T C 3: 36,661,818 (GRCm39) Y127C probably damaging Het
Cadps2 T C 6: 23,382,982 (GRCm39) T793A probably benign Het
Cd200l1 G T 16: 45,264,237 (GRCm39) T107N possibly damaging Het
Cdkl3 A G 11: 51,895,770 (GRCm39) T6A probably benign Het
Cdkn2aip T C 8: 48,166,654 (GRCm39) D51G probably benign Het
Cdpf1 G T 15: 85,692,527 (GRCm39) S52* probably null Het
Celf5 T A 10: 81,303,925 (GRCm39) D177V probably damaging Het
Cep164 A G 9: 45,682,897 (GRCm39) V931A probably damaging Het
Cog6 T C 3: 52,900,907 (GRCm39) D457G probably damaging Het
Col4a2 G T 8: 11,496,157 (GRCm39) V1593L probably benign Het
Dlg5 C G 14: 24,204,681 (GRCm39) M1287I probably benign Het
Dmrt1 T C 19: 25,523,362 (GRCm39) S238P probably benign Het
Dpysl2 A G 14: 67,099,927 (GRCm39) M103T probably benign Het
Emsy C A 7: 98,262,256 (GRCm39) A608S probably benign Het
Entr1 A G 2: 26,278,645 (GRCm39) F21S unknown Het
Entrep2 C T 7: 64,806,056 (GRCm39) G6S probably benign Het
Exoc5 A T 14: 49,253,086 (GRCm39) C576S probably damaging Het
F830016B08Rik G A 18: 60,433,558 (GRCm39) V214M possibly damaging Het
Fignl1 A G 11: 11,752,219 (GRCm39) S279P probably benign Het
Gimap1 A G 6: 48,719,386 (GRCm39) R71G unknown Het
Gm26727 A T 2: 67,263,263 (GRCm39) M88K probably damaging Het
Gm45861 T A 8: 28,045,436 (GRCm39) W1066R unknown Het
Gpr15 A G 16: 58,538,249 (GRCm39) L280S possibly damaging Het
Grin1 C T 2: 25,187,422 (GRCm39) W629* probably null Het
Grk5 C T 19: 61,078,467 (GRCm39) P508L possibly damaging Het
Hgf A T 5: 16,766,029 (GRCm39) D55V probably damaging Het
Hipk1 T A 3: 103,668,890 (GRCm39) D502V probably damaging Het
Kmt2c T C 5: 25,489,758 (GRCm39) K4394E probably damaging Het
Llgl2 A G 11: 115,740,467 (GRCm39) T388A probably damaging Het
Lsm14a G T 7: 34,088,898 (GRCm39) S2R probably damaging Het
Madd A T 2: 91,000,544 (GRCm39) M507K possibly damaging Het
Map2k3 G T 11: 60,837,472 (GRCm39) V191L Het
Mapk8ip1 A G 2: 92,217,060 (GRCm39) S421P probably damaging Het
Marchf7 C T 2: 60,064,785 (GRCm39) R354* probably null Het
Myc T G 15: 61,859,935 (GRCm39) C204G probably damaging Het
Nampt A G 12: 32,900,528 (GRCm39) H491R possibly damaging Het
Noct C T 3: 51,157,267 (GRCm39) Q202* probably null Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or10b1 T A 10: 78,355,949 (GRCm39) F169Y probably damaging Het
Osbpl10 G A 9: 115,052,804 (GRCm39) V451M probably damaging Het
Osr2 T A 15: 35,303,061 (GRCm39) F312Y probably benign Het
Parp16 A T 9: 65,137,097 (GRCm39) I108F possibly damaging Het
Parp4 A G 14: 56,885,888 (GRCm39) T1656A unknown Het
Pnpla8 A G 12: 44,330,657 (GRCm39) I374V probably benign Het
Prss23 T C 7: 89,159,931 (GRCm39) N46S probably benign Het
Ptger2 T C 14: 45,226,476 (GRCm39) W19R possibly damaging Het
Rbl2 T C 8: 91,805,527 (GRCm39) S195P probably damaging Het
Rnf169 C T 7: 99,575,477 (GRCm39) V373I probably damaging Het
Sclt1 C A 3: 41,629,837 (GRCm39) E325* probably null Het
Sergef C T 7: 46,284,913 (GRCm39) S43N probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slc3a2 T C 19: 8,685,370 (GRCm39) D472G probably damaging Het
Slc43a3 T C 2: 84,780,800 (GRCm39) F342L probably benign Het
Slc44a4 A T 17: 35,140,670 (GRCm39) I288F probably benign Het
Snupn T A 9: 56,877,915 (GRCm39) N151K possibly damaging Het
Srbd1 A T 17: 86,437,550 (GRCm39) D264E probably benign Het
Srpra A T 9: 35,125,569 (GRCm39) T378S probably benign Het
Stat4 A G 1: 52,141,762 (GRCm39) D613G possibly damaging Het
Sycp2l C T 13: 41,326,132 (GRCm39) P246L Het
Tcf20 T C 15: 82,736,037 (GRCm39) R1805G probably benign Het
Tob1 T A 11: 94,104,880 (GRCm39) F139I probably damaging Het
Traj9 A G 14: 54,446,871 (GRCm39) T8A unknown Het
Trank1 G T 9: 111,220,537 (GRCm39) D2425Y probably damaging Het
Ttn G A 2: 76,738,071 (GRCm39) S4202L unknown Het
Ttn A T 2: 76,577,267 (GRCm39) M24542K probably damaging Het
Vcam1 T C 3: 115,911,105 (GRCm39) Y431C probably damaging Het
Vcpkmt G A 12: 69,627,936 (GRCm39) R175C probably damaging Het
Vmn2r51 A T 7: 9,839,479 (GRCm39) D36E probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp831 T C 2: 174,487,938 (GRCm39) L871P possibly damaging Het
Other mutations in Casp8ap2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACCTTCAAGAGTCAGTCTGATC -3'
(R):5'- ACATGTTTACCTAGCAACCGTAAC -3'

Sequencing Primer
(F):5'- CCAGTTCCCAAATTTGACAAATG -3'
(R):5'- GTTTACCTAGCAACCGTAACATATGC -3'
Posted On 2022-10-06