Incidental Mutation 'R2128:Casp8ap2'
ID 227705
Institutional Source Beutler Lab
Gene Symbol Casp8ap2
Ensembl Gene ENSMUSG00000028282
Gene Name caspase 8 associated protein 2
Synonyms FLASH, D4Ertd659e
MMRRC Submission 040131-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2128 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 32615451-32653265 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32640142 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 399 (Y399H)
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: Y399H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: Y399H

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 probably benign
Transcript: ENSMUST00000178925
AA Change: Y399H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: Y399H

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 0.0597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,230,204 (GRCm38) E249G possibly damaging Het
2610028H24Rik A G 10: 76,457,515 (GRCm38) M136V possibly damaging Het
4930523C07Rik A T 1: 160,075,375 (GRCm38) K72* probably null Het
Abca6 A G 11: 110,219,649 (GRCm38) I558T probably benign Het
Acot10 T C 15: 20,666,626 (GRCm38) T10A probably benign Het
Adgrl4 T A 3: 151,500,201 (GRCm38) D233E probably benign Het
Adgrv1 A T 13: 81,557,080 (GRCm38) F1537Y probably damaging Het
Akap2 A G 4: 57,854,890 (GRCm38) Y134C probably benign Het
Aqp3 T A 4: 41,098,061 (GRCm38) I17F probably benign Het
Arap1 T A 7: 101,409,320 (GRCm38) L1375H probably damaging Het
Aspm T C 1: 139,457,635 (GRCm38) V339A probably benign Het
Atp13a3 G A 16: 30,354,276 (GRCm38) A261V probably damaging Het
Cept1 A G 3: 106,512,879 (GRCm38) V213A probably damaging Het
Cit A G 5: 115,985,507 (GRCm38) D1469G possibly damaging Het
Cnga2 A G X: 72,007,788 (GRCm38) Y182C possibly damaging Het
Cox20 A G 1: 178,321,947 (GRCm38) I54V probably benign Het
Dhx8 C A 11: 101,738,409 (GRCm38) D261E probably benign Het
Dnah2 A T 11: 69,458,185 (GRCm38) I2486N probably benign Het
Dnah5 A G 15: 28,408,321 (GRCm38) Q3484R probably benign Het
Drd1 T C 13: 54,053,553 (GRCm38) Y207C probably damaging Het
Dtl C T 1: 191,558,110 (GRCm38) V222I probably damaging Het
Dync1h1 T C 12: 110,640,882 (GRCm38) Y2636H probably damaging Het
Endog C A 2: 30,172,036 (GRCm38) D154E probably benign Het
Epc1 A T 18: 6,462,954 (GRCm38) V14E probably damaging Het
Ercc4 C A 16: 13,147,934 (GRCm38) T810K probably damaging Het
Fam43b T A 4: 138,395,988 (GRCm38) N7I possibly damaging Het
Fgd1 T C X: 151,086,217 (GRCm38) probably null Het
Filip1 G T 9: 79,819,330 (GRCm38) T669N probably damaging Het
Fndc1 A G 17: 7,778,665 (GRCm38) probably benign Het
Foxk1 C A 5: 142,435,188 (GRCm38) S189* probably null Het
Gatm T C 2: 122,600,536 (GRCm38) N274S probably damaging Het
Gdf9 A G 11: 53,437,507 (GRCm38) Y430C probably damaging Het
Gga1 C T 15: 78,888,448 (GRCm38) P260S probably damaging Het
Gm11595 A T 11: 99,772,501 (GRCm38) C118S unknown Het
Gm382 G T X: 127,062,651 (GRCm38) V820L possibly damaging Het
Gzmk T A 13: 113,172,014 (GRCm38) I179F probably damaging Het
Hsp90b1 T C 10: 86,695,706 (GRCm38) D421G probably damaging Het
Hus1 A G 11: 9,006,011 (GRCm38) M174T probably damaging Het
Ifngr2 T A 16: 91,562,873 (GRCm38) Y289* probably null Het
Il6st T A 13: 112,504,175 (GRCm38) H828Q probably benign Het
Impg2 T A 16: 56,218,379 (GRCm38) Y127N probably damaging Het
Irf3 T A 7: 45,001,744 (GRCm38) W345R probably damaging Het
Kif1b G A 4: 149,187,640 (GRCm38) S1568L possibly damaging Het
Klhl42 A G 6: 147,101,753 (GRCm38) T342A probably benign Het
Kndc1 G T 7: 139,930,112 (GRCm38) R1289L probably damaging Het
Knl1 A T 2: 119,071,819 (GRCm38) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,313,868 (GRCm38) D499E unknown Het
Ldhd T A 8: 111,627,048 (GRCm38) M478L probably benign Het
Loxl4 C G 19: 42,603,963 (GRCm38) E385D probably damaging Het
Lrriq1 G A 10: 103,214,857 (GRCm38) T678I probably benign Het
Macf1 T A 4: 123,492,774 (GRCm38) I1017F probably benign Het
Madcam1 A G 10: 79,665,572 (GRCm38) E157G possibly damaging Het
Mamdc4 T C 2: 25,569,258 (GRCm38) D195G probably damaging Het
Mctp1 A G 13: 76,824,822 (GRCm38) D648G probably damaging Het
Mycbp2 T C 14: 103,201,230 (GRCm38) M2072V probably benign Het
Nck1 A G 9: 100,497,547 (GRCm38) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm38) D55Y probably damaging Het
Nek11 A T 9: 105,300,361 (GRCm38) D230E probably benign Het
Nit2 T C 16: 57,161,196 (GRCm38) K67E possibly damaging Het
Olfr2 T C 7: 107,001,248 (GRCm38) D204G probably damaging Het
Olfr290 T C 7: 84,916,493 (GRCm38) F238S probably damaging Het
Olfr527 C T 7: 140,336,429 (GRCm38) T189M probably damaging Het
Olfr802 A T 10: 129,682,532 (GRCm38) V69E possibly damaging Het
Pccb G C 9: 100,985,831 (GRCm38) D347E probably damaging Het
Plcl1 T A 1: 55,697,838 (GRCm38) F779L probably damaging Het
Prune2 C A 19: 17,122,422 (GRCm38) D1763E probably benign Het
Pwwp2a A G 11: 43,705,318 (GRCm38) S437G probably benign Het
Rabgap1l A T 1: 160,738,957 (GRCm38) D90E probably benign Het
Rapgef4 T A 2: 72,226,553 (GRCm38) I552N possibly damaging Het
Scn7a A T 2: 66,697,986 (GRCm38) I720K probably damaging Het
Scn9a T A 2: 66,526,654 (GRCm38) N1101I probably damaging Het
Siglec1 A T 2: 131,080,497 (GRCm38) Y553N probably damaging Het
Slc22a23 A G 13: 34,203,970 (GRCm38) L381P possibly damaging Het
Slc7a11 T A 3: 50,384,109 (GRCm38) T284S probably damaging Het
Slc8a2 T A 7: 16,140,492 (GRCm38) probably null Het
Snx29 T A 16: 11,400,971 (GRCm38) S224T probably damaging Het
Stox1 T C 10: 62,664,535 (GRCm38) T749A probably benign Het
Tg A G 15: 66,694,894 (GRCm38) I1264V probably benign Het
Tmem110 T C 14: 30,866,624 (GRCm38) Y103H probably damaging Het
Top2a A C 11: 99,009,807 (GRCm38) V609G probably damaging Het
Trmt44 G A 5: 35,574,832 (GRCm38) P72S probably benign Het
Ttll3 G C 6: 113,412,934 (GRCm38) S760T probably benign Het
Ttn G A 2: 76,833,897 (GRCm38) probably benign Het
Ttn T C 2: 76,748,678 (GRCm38) D23957G probably damaging Het
Ubxn1 T G 19: 8,872,070 (GRCm38) V59G probably benign Het
Ubxn4 T C 1: 128,244,510 (GRCm38) S14P probably benign Het
Uso1 T A 5: 92,195,370 (GRCm38) M771K probably benign Het
Utp20 A G 10: 88,814,055 (GRCm38) F431S probably damaging Het
Vmn1r206 T C 13: 22,620,612 (GRCm38) S142G probably benign Het
Vmn2r19 A G 6: 123,308,330 (GRCm38) probably null Het
Vps36 G T 8: 22,218,289 (GRCm38) probably null Het
Wnt3 A G 11: 103,812,648 (GRCm38) H319R possibly damaging Het
Zbtb26 G T 2: 37,436,551 (GRCm38) Q158K probably benign Het
Zfp648 T C 1: 154,204,607 (GRCm38) S171P probably benign Het
Other mutations in Casp8ap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00686:Casp8ap2 APN 4 32,641,433 (GRCm38) missense probably damaging 1.00
IGL00714:Casp8ap2 APN 4 32,649,192 (GRCm38) missense probably damaging 1.00
IGL00754:Casp8ap2 APN 4 32,641,036 (GRCm38) missense probably benign 0.00
IGL00954:Casp8ap2 APN 4 32,645,403 (GRCm38) missense probably damaging 1.00
IGL00970:Casp8ap2 APN 4 32,646,182 (GRCm38) missense probably benign
IGL01534:Casp8ap2 APN 4 32,648,134 (GRCm38) splice site probably benign
IGL01596:Casp8ap2 APN 4 32,646,365 (GRCm38) missense probably damaging 1.00
IGL01686:Casp8ap2 APN 4 32,641,294 (GRCm38) missense possibly damaging 0.94
IGL02002:Casp8ap2 APN 4 32,639,391 (GRCm38) missense probably damaging 1.00
IGL02273:Casp8ap2 APN 4 32,643,974 (GRCm38) missense probably damaging 1.00
IGL02510:Casp8ap2 APN 4 32,639,704 (GRCm38) missense probably benign 0.05
IGL02600:Casp8ap2 APN 4 32,630,246 (GRCm38) missense probably null 1.00
IGL02929:Casp8ap2 APN 4 32,624,105 (GRCm38) utr 5 prime probably benign
F5770:Casp8ap2 UTSW 4 32,639,944 (GRCm38) missense probably benign 0.00
IGL02988:Casp8ap2 UTSW 4 32,644,590 (GRCm38) missense probably benign 0.14
R0023:Casp8ap2 UTSW 4 32,640,185 (GRCm38) missense probably damaging 0.99
R0027:Casp8ap2 UTSW 4 32,643,810 (GRCm38) missense probably benign 0.01
R0090:Casp8ap2 UTSW 4 32,640,327 (GRCm38) missense probably damaging 1.00
R0117:Casp8ap2 UTSW 4 32,640,817 (GRCm38) missense probably benign 0.00
R0144:Casp8ap2 UTSW 4 32,643,797 (GRCm38) missense possibly damaging 0.50
R0268:Casp8ap2 UTSW 4 32,644,079 (GRCm38) missense probably damaging 0.99
R0344:Casp8ap2 UTSW 4 32,644,079 (GRCm38) missense probably damaging 0.99
R0555:Casp8ap2 UTSW 4 32,640,381 (GRCm38) missense probably damaging 1.00
R1051:Casp8ap2 UTSW 4 32,640,790 (GRCm38) missense probably benign 0.28
R1165:Casp8ap2 UTSW 4 32,640,563 (GRCm38) missense probably benign 0.01
R1243:Casp8ap2 UTSW 4 32,645,687 (GRCm38) missense probably benign 0.03
R1311:Casp8ap2 UTSW 4 32,648,111 (GRCm38) missense probably damaging 0.98
R1337:Casp8ap2 UTSW 4 32,645,721 (GRCm38) missense possibly damaging 0.64
R1471:Casp8ap2 UTSW 4 32,639,386 (GRCm38) nonsense probably null
R1497:Casp8ap2 UTSW 4 32,639,938 (GRCm38) missense probably benign 0.00
R1521:Casp8ap2 UTSW 4 32,631,867 (GRCm38) missense probably damaging 1.00
R1588:Casp8ap2 UTSW 4 32,640,541 (GRCm38) missense probably benign 0.00
R1625:Casp8ap2 UTSW 4 32,648,068 (GRCm38) missense probably benign 0.04
R1731:Casp8ap2 UTSW 4 32,641,442 (GRCm38) missense possibly damaging 0.94
R1899:Casp8ap2 UTSW 4 32,643,647 (GRCm38) missense probably damaging 0.98
R2000:Casp8ap2 UTSW 4 32,634,874 (GRCm38) missense probably damaging 1.00
R2021:Casp8ap2 UTSW 4 32,644,560 (GRCm38) missense probably benign 0.05
R2022:Casp8ap2 UTSW 4 32,644,560 (GRCm38) missense probably benign 0.05
R2023:Casp8ap2 UTSW 4 32,644,560 (GRCm38) missense probably benign 0.05
R2088:Casp8ap2 UTSW 4 32,631,126 (GRCm38) missense probably damaging 1.00
R2104:Casp8ap2 UTSW 4 32,644,727 (GRCm38) missense probably benign 0.00
R2129:Casp8ap2 UTSW 4 32,640,142 (GRCm38) missense probably benign 0.06
R2305:Casp8ap2 UTSW 4 32,646,411 (GRCm38) missense probably damaging 1.00
R2316:Casp8ap2 UTSW 4 32,643,781 (GRCm38) missense probably benign 0.31
R2919:Casp8ap2 UTSW 4 32,645,343 (GRCm38) missense probably damaging 1.00
R4091:Casp8ap2 UTSW 4 32,643,611 (GRCm38) missense probably damaging 1.00
R4357:Casp8ap2 UTSW 4 32,646,150 (GRCm38) missense probably benign 0.00
R4807:Casp8ap2 UTSW 4 32,644,505 (GRCm38) missense possibly damaging 0.89
R4828:Casp8ap2 UTSW 4 32,639,807 (GRCm38) missense probably benign
R4908:Casp8ap2 UTSW 4 32,639,905 (GRCm38) missense possibly damaging 0.90
R4945:Casp8ap2 UTSW 4 32,631,163 (GRCm38) missense possibly damaging 0.57
R4962:Casp8ap2 UTSW 4 32,640,554 (GRCm38) missense probably damaging 0.99
R6014:Casp8ap2 UTSW 4 32,641,400 (GRCm38) missense probably damaging 0.97
R6092:Casp8ap2 UTSW 4 32,639,380 (GRCm38) missense probably damaging 1.00
R6257:Casp8ap2 UTSW 4 32,641,364 (GRCm38) missense possibly damaging 0.94
R6289:Casp8ap2 UTSW 4 32,639,590 (GRCm38) missense probably damaging 1.00
R6482:Casp8ap2 UTSW 4 32,634,813 (GRCm38) missense probably damaging 1.00
R6496:Casp8ap2 UTSW 4 32,641,553 (GRCm38) missense probably benign 0.05
R6515:Casp8ap2 UTSW 4 32,646,423 (GRCm38) missense possibly damaging 0.64
R7015:Casp8ap2 UTSW 4 32,644,278 (GRCm38) missense probably damaging 1.00
R7033:Casp8ap2 UTSW 4 32,639,392 (GRCm38) missense probably damaging 1.00
R7072:Casp8ap2 UTSW 4 32,644,766 (GRCm38) missense probably damaging 1.00
R7448:Casp8ap2 UTSW 4 32,643,974 (GRCm38) missense possibly damaging 0.84
R7944:Casp8ap2 UTSW 4 32,645,909 (GRCm38) missense probably benign 0.12
R7945:Casp8ap2 UTSW 4 32,645,909 (GRCm38) missense probably benign 0.12
R8170:Casp8ap2 UTSW 4 32,615,490 (GRCm38) splice site probably benign
R8179:Casp8ap2 UTSW 4 32,643,939 (GRCm38) nonsense probably null
R8207:Casp8ap2 UTSW 4 32,646,446 (GRCm38) missense possibly damaging 0.63
R8263:Casp8ap2 UTSW 4 32,644,072 (GRCm38) missense probably damaging 1.00
R8298:Casp8ap2 UTSW 4 32,640,429 (GRCm38) missense probably benign 0.30
R9441:Casp8ap2 UTSW 4 32,645,873 (GRCm38) missense probably benign 0.00
R9455:Casp8ap2 UTSW 4 32,643,924 (GRCm38) missense possibly damaging 0.85
R9729:Casp8ap2 UTSW 4 32,643,807 (GRCm38) missense possibly damaging 0.71
V7580:Casp8ap2 UTSW 4 32,639,944 (GRCm38) missense probably benign 0.00
X0018:Casp8ap2 UTSW 4 32,643,738 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GAGACTTCCAGAGAAAGGCCAC -3'
(R):5'- AGGAGTATTTTCCCACTGGTG -3'

Sequencing Primer
(F):5'- TCGAGTGGAATCTCAACATGAC -3'
(R):5'- GTGTGCAACACTAACTTCCTTGGAG -3'
Posted On 2014-09-17