Incidental Mutation 'R5858:Cflar'
ID 454985
Institutional Source Beutler Lab
Gene Symbol Cflar
Ensembl Gene ENSMUSG00000026031
Gene Name CASP8 and FADD-like apoptosis regulator
Synonyms Cash, c-Flip, Flip, 2310024N18Rik, Casper, A430105C05Rik
MMRRC Submission 044070-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5858 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 58750667-58798043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58793010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 459 (S459P)
Ref Sequence ENSEMBL: ENSMUSP00000109952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069333] [ENSMUST00000097722] [ENSMUST00000114313]
AlphaFold O35732
Predicted Effect probably benign
Transcript: ENSMUST00000069333
AA Change: S459P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: S459P

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
CASc 245 480 6.05e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097722
AA Change: S462P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: S462P

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
CASc 248 483 6.05e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114313
AA Change: S459P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: S459P

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
CASc 245 480 6.05e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140940
Meta Mutation Damage Score 0.0871 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality by E10.5. Mutant embryos exhibit cardiac developmental abnormalities and pooling of blood in the head and abdominal regions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,781,343 (GRCm39) Q102L probably benign Het
Ak9 G A 10: 41,299,023 (GRCm39) V1575I unknown Het
Alg14 G A 3: 121,113,737 (GRCm39) probably benign Het
Arl5a T C 2: 52,302,118 (GRCm39) I99V probably benign Het
Cacul1 T C 19: 60,517,482 (GRCm39) probably benign Het
Cc2d2a C T 5: 43,873,117 (GRCm39) R934C probably damaging Het
Ccr2 A G 9: 123,906,464 (GRCm39) E248G probably benign Het
Cds2 G T 2: 132,144,033 (GRCm39) V287L probably benign Het
Clcc1 A G 3: 108,568,744 (GRCm39) D21G probably damaging Het
Col8a2 C T 4: 126,205,093 (GRCm39) probably benign Het
Cops7a A T 6: 124,937,134 (GRCm39) S186T possibly damaging Het
Dagla C T 19: 10,232,332 (GRCm39) probably benign Het
Dapp1 T C 3: 137,667,292 (GRCm39) Y49C possibly damaging Het
Dnase1 T C 16: 3,857,513 (GRCm39) probably benign Het
Dock9 A G 14: 121,866,204 (GRCm39) V633A probably benign Het
E4f1 A G 17: 24,664,302 (GRCm39) F461L probably damaging Het
Epg5 T A 18: 77,991,514 (GRCm39) C70* probably null Het
Ephb2 T C 4: 136,399,756 (GRCm39) H589R probably benign Het
Fam184b A T 5: 45,796,461 (GRCm39) C41S probably damaging Het
Hace1 A G 10: 45,587,621 (GRCm39) T907A possibly damaging Het
Il31 T A 5: 123,618,637 (GRCm39) T129S probably benign Het
Il6 A T 5: 30,218,472 (GRCm39) T23S possibly damaging Het
Kif12 T C 4: 63,084,647 (GRCm39) E557G probably benign Het
Krt24 A T 11: 99,175,591 (GRCm39) L148H probably damaging Het
Mapk8ip1 A G 2: 92,215,317 (GRCm39) F635S probably damaging Het
Mcc A T 18: 44,643,208 (GRCm39) V313E probably damaging Het
Muc15 A G 2: 110,562,143 (GRCm39) D193G probably damaging Het
Nbea A G 3: 55,860,455 (GRCm39) probably null Het
Or12e10 A T 2: 87,640,985 (GRCm39) I274F probably benign Het
Or2ag1 T A 7: 106,472,975 (GRCm39) Y159F probably benign Het
Or2m13 A G 16: 19,225,975 (GRCm39) S265P possibly damaging Het
Or5b94 A G 19: 12,651,743 (GRCm39) Y58C probably damaging Het
P4ha1 A T 10: 59,175,200 (GRCm39) L53F probably damaging Het
Pcdha7 A G 18: 37,109,279 (GRCm39) D768G probably damaging Het
Pdzd2 T A 15: 12,442,675 (GRCm39) D208V probably damaging Het
Ptk2 A T 15: 73,192,944 (GRCm39) I159K probably benign Het
Rfx6 A G 10: 51,601,964 (GRCm39) N761S probably benign Het
Rpp25l A T 4: 41,712,678 (GRCm39) D32E probably benign Het
Rxrg A T 1: 167,454,925 (GRCm39) K169N probably damaging Het
Ryr2 T C 13: 11,575,460 (GRCm39) D4846G probably damaging Het
Sec23a A G 12: 59,019,821 (GRCm39) F553S probably damaging Het
Spen T C 4: 141,201,182 (GRCm39) I2482V probably benign Het
Ston1 A G 17: 88,943,059 (GRCm39) D155G possibly damaging Het
Tha1 A G 11: 117,764,210 (GRCm39) F6L unknown Het
Trank1 T A 9: 111,221,604 (GRCm39) D2780E probably benign Het
Ubqln5 T C 7: 103,778,018 (GRCm39) T269A probably benign Het
Vars1 C T 17: 35,224,451 (GRCm39) R324C probably benign Het
Zfp287 T A 11: 62,604,833 (GRCm39) Q691H probably damaging Het
Other mutations in Cflar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cflar APN 1 58,771,469 (GRCm39) missense probably benign 0.42
IGL00959:Cflar APN 1 58,768,321 (GRCm39) critical splice donor site probably null
IGL02045:Cflar APN 1 58,791,903 (GRCm39) missense probably benign 0.25
IGL02200:Cflar APN 1 58,791,828 (GRCm39) missense probably damaging 1.00
IGL02382:Cflar APN 1 58,791,840 (GRCm39) missense probably benign 0.14
IGL03032:Cflar APN 1 58,780,179 (GRCm39) missense probably damaging 1.00
Channel_islands UTSW 1 58,793,010 (GRCm39) missense probably benign 0.00
IGL02988:Cflar UTSW 1 58,780,190 (GRCm39) missense possibly damaging 0.58
R1936:Cflar UTSW 1 58,791,784 (GRCm39) nonsense probably null
R2259:Cflar UTSW 1 58,768,280 (GRCm39) missense probably benign 0.16
R2269:Cflar UTSW 1 58,780,206 (GRCm39) critical splice donor site probably null
R3816:Cflar UTSW 1 58,791,582 (GRCm39) missense probably benign 0.24
R3824:Cflar UTSW 1 58,774,856 (GRCm39) missense probably benign 0.00
R4232:Cflar UTSW 1 58,780,152 (GRCm39) missense possibly damaging 0.92
R4644:Cflar UTSW 1 58,770,426 (GRCm39) missense probably damaging 1.00
R4749:Cflar UTSW 1 58,779,431 (GRCm39) missense possibly damaging 0.62
R4765:Cflar UTSW 1 58,771,480 (GRCm39) missense probably damaging 0.98
R4785:Cflar UTSW 1 58,791,726 (GRCm39) missense probably benign 0.34
R5315:Cflar UTSW 1 58,792,961 (GRCm39) missense probably benign 0.34
R5418:Cflar UTSW 1 58,791,810 (GRCm39) missense possibly damaging 0.54
R5509:Cflar UTSW 1 58,791,551 (GRCm39) missense probably benign 0.02
R5899:Cflar UTSW 1 58,791,927 (GRCm39) missense probably benign 0.36
R6048:Cflar UTSW 1 58,780,202 (GRCm39) missense probably benign 0.02
R7065:Cflar UTSW 1 58,770,368 (GRCm39) missense probably damaging 1.00
R7144:Cflar UTSW 1 58,793,007 (GRCm39) missense
R7206:Cflar UTSW 1 58,780,150 (GRCm39) missense
R7384:Cflar UTSW 1 58,791,735 (GRCm39) missense
R7453:Cflar UTSW 1 58,792,956 (GRCm39) missense
R7467:Cflar UTSW 1 58,765,597 (GRCm39) start codon destroyed probably null
R7694:Cflar UTSW 1 58,791,966 (GRCm39) missense
R7808:Cflar UTSW 1 58,750,740 (GRCm39) start gained probably benign
R7890:Cflar UTSW 1 58,791,915 (GRCm39) missense
R8073:Cflar UTSW 1 58,791,981 (GRCm39) missense
R9506:Cflar UTSW 1 58,791,975 (GRCm39) missense
Z1176:Cflar UTSW 1 58,779,472 (GRCm39) critical splice donor site probably null
Z1176:Cflar UTSW 1 58,770,388 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGCCAGAGTACTGCCAATTG -3'
(R):5'- TGTGCACAGGAGAACCCTAG -3'

Sequencing Primer
(F):5'- TTGCTAAGCAATGCACAGAGC -3'
(R):5'- CAGGAGAACCCTAGGCCAG -3'
Posted On 2017-02-10