Incidental Mutation 'IGL02988:Casp8ap2'
ID 453474
Institutional Source Beutler Lab
Gene Symbol Casp8ap2
Ensembl Gene ENSMUSG00000028282
Gene Name caspase 8 associated protein 2
Synonyms FLASH, D4Ertd659e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02988 (G1)
Quality Score 161
Status Validated
Chromosome 4
Chromosomal Location 32615462-32653271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32644590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1221 (T1221I)
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: T1221I

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: T1221I

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 probably benign
Transcript: ENSMUST00000178925
AA Change: T1221I

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: T1221I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aadacl4fm5 T A 4: 144,513,100 (GRCm39) probably benign Het
Adgrd1 G A 5: 129,221,074 (GRCm39) A488T probably benign Het
Ano3 T C 2: 110,605,355 (GRCm39) S284G probably damaging Het
Aox1 G T 1: 58,376,509 (GRCm39) V897L probably benign Het
Arl6 T A 16: 59,434,209 (GRCm39) probably null Het
Blnk G A 19: 40,917,660 (GRCm39) T441M probably damaging Het
Cbll1 A T 12: 31,542,171 (GRCm39) F63L possibly damaging Het
Cdk14 A G 5: 5,086,484 (GRCm39) Y279H probably damaging Het
Cflar A T 1: 58,780,190 (GRCm39) I265F possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,897,272 (GRCm39) Y347* probably null Het
Defa27 T C 8: 21,805,583 (GRCm39) S8P probably damaging Het
Depdc5 A C 5: 33,113,511 (GRCm39) probably null Het
Dlg5 A G 14: 24,216,323 (GRCm39) F573S probably damaging Het
Fam20c A T 5: 138,741,749 (GRCm39) E120V probably benign Het
Fam53a T C 5: 33,764,819 (GRCm39) K296E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fndc1 T C 17: 7,972,355 (GRCm39) T1526A possibly damaging Het
Gm14325 A C 2: 177,476,042 (GRCm39) probably null Het
Gm7582 G A 1: 85,019,588 (GRCm39) noncoding transcript Het
Golga7b A C 19: 42,255,239 (GRCm39) Y63S probably damaging Het
Hexb A G 13: 97,334,729 (GRCm39) L14P unknown Het
Hsd17b3 A C 13: 64,236,914 (GRCm39) L10R probably damaging Het
Il6st T C 13: 112,635,420 (GRCm39) F611L probably damaging Het
Ints13 T A 6: 146,457,646 (GRCm39) T411S possibly damaging Het
Kif18b C A 11: 102,799,146 (GRCm39) C685F probably damaging Het
Kif5c A G 2: 49,509,729 (GRCm39) N19S probably damaging Het
Lmbr1 G T 5: 29,497,221 (GRCm39) probably null Het
Minar1 A G 9: 89,484,792 (GRCm39) S202P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrc2 G A 11: 105,216,397 (GRCm39) R62Q probably benign Het
Myo1g T C 11: 6,458,183 (GRCm39) probably benign Het
Myo5a A T 9: 75,037,423 (GRCm39) probably benign Het
Nobox G A 6: 43,282,095 (GRCm39) S326L possibly damaging Het
Nsl1 C A 1: 190,795,300 (GRCm39) S22* probably null Het
Or5b3 A C 19: 13,388,826 (GRCm39) K298Q possibly damaging Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Pkd2 A T 5: 104,651,471 (GRCm39) R940* probably null Het
Plcd3 T A 11: 102,967,568 (GRCm39) Q458L probably benign Het
Polm T A 11: 5,786,343 (GRCm39) T75S probably benign Het
Pon3 T A 6: 5,232,330 (GRCm39) D230V possibly damaging Het
Pxdn A T 12: 30,053,113 (GRCm39) K917* probably null Het
Rad54l2 A G 9: 106,577,784 (GRCm39) S1046P probably benign Het
Rb1cc1 T C 1: 6,318,035 (GRCm39) probably null Het
Rnf215 A G 11: 4,086,785 (GRCm39) E194G probably damaging Het
Rorb A T 19: 18,915,336 (GRCm39) F441I probably damaging Het
Sel1l2 C A 2: 140,090,508 (GRCm39) G378V probably damaging Het
Sema6a G T 18: 47,431,281 (GRCm39) A139D probably damaging Het
Serpinb3d A T 1: 107,006,266 (GRCm39) M274K probably benign Het
Siglec15 A C 18: 78,092,462 (GRCm39) L32R probably damaging Het
Siglecg A T 7: 43,067,476 (GRCm39) D681V probably damaging Het
Slc6a13 G T 6: 121,303,066 (GRCm39) probably benign Het
Slc9b2 G T 3: 135,024,179 (GRCm39) A77S probably benign Het
Slit3 T A 11: 35,598,890 (GRCm39) V1498D probably damaging Het
Snorc A G 1: 87,402,926 (GRCm39) probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stxbp2 T C 8: 3,683,267 (GRCm39) probably benign Het
Tbc1d9b T C 11: 50,042,773 (GRCm39) S482P possibly damaging Het
Tec A G 5: 72,926,090 (GRCm39) S321P possibly damaging Het
Tenm3 A G 8: 48,688,381 (GRCm39) M2402T probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tm4sf1 A T 3: 57,200,537 (GRCm39) probably null Het
Tmcc1 T C 6: 116,019,889 (GRCm39) E306G probably damaging Het
Traf3ip3 A T 1: 192,877,182 (GRCm39) probably null Het
Utf1 C T 7: 139,523,875 (GRCm39) P30L possibly damaging Het
Wdfy3 A T 5: 102,077,847 (GRCm39) C880S probably 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
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
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'- GAGAGAACCCAACATTCAAATTGTCAG -3'
(R):5'- CCATCTGTGCATCACTCACTAAG -3'

Sequencing Primer
(F):5'- AATCTTCACTGGGATGTGA -3'
(R):5'- CTCACTAAGTTAAAAGTAAGGCTGG -3'
Posted On 2017-02-08