Incidental Mutation 'R7694:Cflar'
ID 593521
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 045757-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7694 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 58750667-58798043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58791966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 423 (V423E)
Ref Sequence ENSEMBL: ENSMUSP00000109952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069333] [ENSMUST00000097722] [ENSMUST00000114313]
AlphaFold O35732
Predicted Effect
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: V423E

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 possibly damaging
Transcript: ENSMUST00000097722
AA Change: V426E

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: V426E

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
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: V423E

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
CASc 245 480 6.05e-92 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T G 17: 14,109,144 (GRCm39) S1571A probably damaging Het
Agbl1 C A 7: 76,348,513 (GRCm39) A870D unknown Het
Alpl C T 4: 137,471,120 (GRCm39) G339R probably damaging Het
Ankrd55 T C 13: 112,504,498 (GRCm39) Y415H probably damaging Het
Cd69 G A 6: 129,247,008 (GRCm39) R111C possibly damaging Het
Cdh26 A T 2: 178,101,896 (GRCm39) T172S probably damaging Het
Cgrrf1 A C 14: 47,091,415 (GRCm39) Q313P possibly damaging Het
Chga G A 12: 102,527,606 (GRCm39) A87T probably benign Het
Chrna4 T A 2: 180,660,386 (GRCm39) D102V Het
Cpvl A T 6: 53,909,502 (GRCm39) Y211* probably null Het
Cyp26a1 G A 19: 37,689,512 (GRCm39) D403N possibly damaging Het
Dchs2 T C 3: 83,036,789 (GRCm39) L512P probably damaging Het
Dll3 A C 7: 28,001,170 (GRCm39) M1R probably null Het
Dnah12 A G 14: 26,503,337 (GRCm39) T1564A probably damaging Het
Efhb A G 17: 53,707,836 (GRCm39) S776P probably damaging Het
Eml5 T C 12: 98,758,822 (GRCm39) S1831G probably damaging Het
Fat1 G T 8: 45,441,967 (GRCm39) probably null Het
Fhad1 T C 4: 141,632,375 (GRCm39) K1255E probably benign Het
Fitm2 C T 2: 163,311,892 (GRCm39) C107Y probably damaging Het
Gdpd4 T C 7: 97,621,146 (GRCm39) V153A probably benign Het
Ggnbp2 A G 11: 84,751,539 (GRCm39) V87A possibly damaging Het
Glb1l G T 1: 75,178,436 (GRCm39) A334E probably damaging Het
Gnas T G 2: 174,142,005 (GRCm39) L784R probably damaging Het
Gtf2i C T 5: 134,311,659 (GRCm39) E223K probably damaging Het
H2-M10.5 T C 17: 37,084,641 (GRCm39) Y122H probably damaging Het
Hikeshi G A 7: 89,579,554 (GRCm39) Q6* probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Irak2 A C 6: 113,667,859 (GRCm39) D528A probably damaging Het
Lcn2 A G 2: 32,278,042 (GRCm39) C17R unknown Het
Lcp2 G T 11: 34,000,924 (GRCm39) V36L probably benign Het
Lin7c T C 2: 109,726,617 (GRCm39) S89P probably benign Het
Lrrc37a C T 11: 103,395,204 (GRCm39) A74T probably benign Het
Lrrtm3 T A 10: 63,923,818 (GRCm39) M450L probably benign Het
Lsm11 C T 11: 45,824,768 (GRCm39) R253Q probably benign Het
Map9 A T 3: 82,266,290 (GRCm39) probably benign Het
Mmp2 T A 8: 93,558,358 (GRCm39) D142E possibly damaging Het
Nrn1l A T 8: 106,621,430 (GRCm39) T127S probably damaging Het
Or14c46 T C 7: 85,918,983 (GRCm39) T5A probably damaging Het
Pelp1 G A 11: 70,285,585 (GRCm39) T761I probably damaging Het
Pmm2 T A 16: 8,463,254 (GRCm39) V63E probably damaging Het
Ptprb T A 10: 116,208,853 (GRCm39) L1942H probably damaging Het
Ptprk T A 10: 28,465,366 (GRCm39) C1350S possibly damaging Het
Rnf44 A G 13: 54,829,841 (GRCm39) V381A probably damaging Het
Robo3 G A 9: 37,329,816 (GRCm39) P1167S probably benign Het
Ryk A G 9: 102,775,979 (GRCm39) E489G probably damaging Het
Satb2 T A 1: 56,910,683 (GRCm39) I321L probably benign Het
Sh2b1 A T 7: 126,066,929 (GRCm39) V655E probably benign Het
Slc16a12 G A 19: 34,648,035 (GRCm39) T486M probably damaging Het
Slc34a1 G T 13: 55,561,221 (GRCm39) R562L probably benign Het
Slc4a9 A G 18: 36,669,902 (GRCm39) E779G probably damaging Het
Strc C A 2: 121,207,577 (GRCm39) C598F probably damaging Het
Stxbp6 A T 12: 44,948,810 (GRCm39) F100I probably damaging Het
Tap2 A G 17: 34,424,671 (GRCm39) T135A probably benign Het
Tmcc1 G A 6: 116,110,805 (GRCm39) P159S Het
Tmem106b T A 6: 13,078,105 (GRCm39) M100K probably benign Het
Ttn T A 2: 76,578,039 (GRCm39) T24285S probably damaging Het
Vmn1r116 G A 7: 20,606,337 (GRCm39) V53M possibly damaging Het
Zar1 A T 5: 72,738,193 (GRCm39) S70T probably benign Het
Zfp235 C T 7: 23,841,525 (GRCm39) T648M probably benign Het
Zfp937 C T 2: 150,081,268 (GRCm39) H433Y 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
R5858:Cflar UTSW 1 58,793,010 (GRCm39) missense probably benign 0.00
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
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'- TTCTCTCAGAGGGAAGCCAAAG -3'
(R):5'- CCCAAAGCAATTTGAACTGGG -3'

Sequencing Primer
(F):5'- TCAGAACTATGAGTCGTTAGGTAGCC -3'
(R):5'- CTGGGAAGGGAAAGTCTCTGTCC -3'
Posted On 2019-11-12