Incidental Mutation 'R6257:Casp8ap2'
ID 506378
Institutional Source Beutler Lab
Gene Symbol Casp8ap2
Ensembl Gene ENSMUSG00000028282
Gene Name caspase 8 associated protein 2
Synonyms FLASH, D4Ertd659e
MMRRC Submission 044374-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6257 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 32615462-32653271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32641364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 806 (D806G)
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: D806G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: D806G

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 noncoding transcript
Transcript: ENSMUST00000127619
Predicted Effect possibly damaging
Transcript: ENSMUST00000178925
AA Change: D806G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: D806G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (74/76)
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
Abcf1 A T 17: 36,272,074 (GRCm39) N313K probably benign Het
Adamts2 T C 11: 50,666,153 (GRCm39) V383A probably damaging Het
Adamts6 A T 13: 104,598,790 (GRCm39) Q877L probably benign Het
Adgre4 C T 17: 56,109,133 (GRCm39) T380I possibly damaging Het
Aspm A G 1: 139,409,791 (GRCm39) probably null Het
Atg16l2 A G 7: 100,951,102 (GRCm39) probably null Het
Bcl6b C T 11: 70,116,878 (GRCm39) R467H probably benign Het
Cacna2d4 G A 6: 119,258,580 (GRCm39) probably null Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Ccser1 A G 6: 61,350,946 (GRCm39) D501G probably damaging Het
Ccser1 A G 6: 62,356,769 (GRCm39) T736A probably benign Het
Cd164l2 T A 4: 132,948,345 (GRCm39) C19S unknown Het
Cdk15 G A 1: 59,296,264 (GRCm39) probably null Het
Cebpz T C 17: 79,243,261 (GRCm39) E131G probably benign Het
Ces1d T C 8: 93,893,025 (GRCm39) D519G probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Chd1 T G 17: 15,950,465 (GRCm39) probably null Het
Chil4 T A 3: 106,111,412 (GRCm39) D234V possibly damaging Het
Cldn16 T A 16: 26,300,080 (GRCm39) S173T probably damaging Het
Cpd A T 11: 76,703,496 (GRCm39) F456I probably benign Het
Cst8 C A 2: 148,647,365 (GRCm39) A125E probably damaging Het
Dars2 G T 1: 160,869,398 (GRCm39) P617Q probably damaging Het
Defb26 A G 2: 152,349,860 (GRCm39) V140A unknown Het
Dntt T G 19: 41,041,501 (GRCm39) V395G probably damaging Het
Dock10 G A 1: 80,481,413 (GRCm39) probably benign Het
Dscam T C 16: 96,474,914 (GRCm39) N1216S possibly damaging Het
En1 A T 1: 120,531,636 (GRCm39) D292V unknown Het
Erbb4 A T 1: 68,435,432 (GRCm39) L155Q probably damaging Het
Erbin T C 13: 103,998,796 (GRCm39) T197A probably benign Het
Fat2 A G 11: 55,153,407 (GRCm39) F3602L probably benign Het
Fcsk A T 8: 111,617,177 (GRCm39) C365S probably benign Het
Gm3443 A T 19: 21,533,075 (GRCm39) D13V unknown Het
Gm6401 T C 14: 41,789,828 (GRCm39) Q10R probably benign Het
Gmcl1 G A 6: 86,677,623 (GRCm39) T410I possibly damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H2-T24 T A 17: 36,325,574 (GRCm39) T305S probably benign Het
Ksr2 A T 5: 117,552,909 (GRCm39) M6L probably benign Het
Lama2 A G 10: 26,862,895 (GRCm39) L2956S possibly damaging Het
Lhfpl3 A G 5: 22,951,557 (GRCm39) T123A probably benign Het
Lrp1b T A 2: 40,486,981 (GRCm39) probably null Het
Ltn1 G A 16: 87,208,662 (GRCm39) A812V possibly damaging Het
Maml2 C T 9: 13,531,722 (GRCm39) S312L probably damaging Het
Myo7b T A 18: 32,146,468 (GRCm39) N106Y probably damaging Het
Nacc2 A T 2: 25,950,420 (GRCm39) C439S probably damaging Het
Ncoa7 A G 10: 30,570,173 (GRCm39) I224T probably damaging Het
Nf1 A T 11: 79,440,317 (GRCm39) L2303F probably damaging Het
Noc3l A T 19: 38,784,349 (GRCm39) probably null Het
Nup155 C T 15: 8,180,282 (GRCm39) R1120* probably null Het
Oas3 C A 5: 120,899,200 (GRCm39) probably benign Het
Ocln T C 13: 100,676,017 (GRCm39) I159V probably benign Het
Or1p1c T C 11: 74,160,833 (GRCm39) V206A probably damaging Het
Or2t45 T A 11: 58,669,829 (GRCm39) V292E probably damaging Het
Os9 A C 10: 126,955,006 (GRCm39) C181G probably damaging Het
Phldb1 C T 9: 44,607,437 (GRCm39) R1256Q probably damaging Het
Pkd1l1 G A 11: 8,892,195 (GRCm39) T208I probably benign Het
Plppr4 T C 3: 117,116,228 (GRCm39) Q485R possibly damaging Het
Prkcb T A 7: 122,167,386 (GRCm39) D365E probably benign Het
Ptprz1 T A 6: 22,959,639 (GRCm39) N45K probably damaging Het
Rbl2 T C 8: 91,842,306 (GRCm39) L987P probably damaging Het
Runx1 T A 16: 92,492,799 (GRCm39) probably benign Het
Septin4 C A 11: 87,481,175 (GRCm39) Q372K probably benign Het
Slc24a4 A G 12: 102,220,769 (GRCm39) E400G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Sri T A 5: 8,109,596 (GRCm39) probably null Het
St3gal3 C T 4: 117,964,875 (GRCm39) probably benign Het
Tfpt A T 7: 3,632,566 (GRCm39) L3* probably null Het
Tgfb3 T C 12: 86,124,615 (GRCm39) D31G possibly damaging Het
Thsd7a G T 6: 12,408,987 (GRCm39) C678* probably null Het
Tmbim1 A G 1: 74,332,225 (GRCm39) Y101H probably damaging Het
Tmem17 A G 11: 22,462,297 (GRCm39) probably benign Het
Tmprss15 A T 16: 78,769,113 (GRCm39) V769E probably damaging Het
Trak1 C T 9: 121,275,821 (GRCm39) R175C probably damaging Het
Trak1 G T 9: 121,196,290 (GRCm39) V41F possibly damaging Het
Trim30c T C 7: 104,039,375 (GRCm39) Y140C probably damaging Het
Tubgcp3 A T 8: 12,699,835 (GRCm39) probably null Het
Ubr7 T A 12: 102,732,099 (GRCm39) C158* probably null Het
Vmn2r79 A T 7: 86,651,778 (GRCm39) L392F probably benign Het
Zfp536 T A 7: 37,179,830 (GRCm39) D925V 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
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
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'- TCTTTCACCAAAAGCAGCTGC -3'
(R):5'- TGCTATCATACAGTGGAATTGCAC -3'

Sequencing Primer
(F):5'- AGTGAGAGCCATCTTGCAC -3'
(R):5'- CAGTGGAATTGCACATGAGCTCTC -3'
Posted On 2018-03-15