Incidental Mutation 'R5315:Cflar'
ID 405777
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 042898-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5315 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 58750667-58798043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 58792961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 442 (D442E)
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: D442E

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: D442E

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: D445E

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: D445E

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: D442E

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: D442E

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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T C 11: 105,885,747 (GRCm39) V51A probably benign Het
Ass1 A T 2: 31,382,341 (GRCm39) I171F probably benign Het
AU041133 T G 10: 81,987,506 (GRCm39) Y386* probably null Het
Bex6 A G 16: 32,005,311 (GRCm39) N40D probably benign Het
Cc2d2a A G 5: 43,877,775 (GRCm39) Y1044C probably damaging Het
Dag1 A G 9: 108,086,316 (GRCm39) V275A probably damaging Het
Dnah17 G A 11: 118,018,109 (GRCm39) R129W possibly damaging Het
Epha4 C T 1: 77,365,109 (GRCm39) probably null Het
Eri2 T C 7: 119,385,241 (GRCm39) D420G probably benign Het
Gm42669 A T 5: 107,656,103 (GRCm39) I1301F probably damaging Het
Golga2 A G 2: 32,193,773 (GRCm39) E463G probably damaging Het
Grsf1 G A 5: 88,821,634 (GRCm39) probably benign Het
Igkv6-15 A C 6: 70,383,957 (GRCm39) V7G possibly damaging Het
Katnal2 A T 18: 77,099,705 (GRCm39) V143D probably benign Het
Mepce A C 5: 137,780,955 (GRCm39) I617S probably damaging Het
Mms19 C T 19: 41,943,201 (GRCm39) R320Q possibly damaging Het
Nt5c2 T C 19: 46,880,682 (GRCm39) Y353C probably damaging Het
Or5p76 A G 7: 108,123,097 (GRCm39) L20S probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pitpnm2 A T 5: 124,259,996 (GRCm39) D1111E probably benign Het
Plin5 C A 17: 56,421,066 (GRCm39) V200L probably benign Het
Rab3a T C 8: 71,208,569 (GRCm39) F23L probably damaging Het
Rrp8 T C 7: 105,383,207 (GRCm39) K353R probably benign Het
S100a7l2 G A 3: 90,997,637 (GRCm39) T26M possibly damaging Het
Senp7 A G 16: 56,000,889 (GRCm39) D887G probably benign Het
Sftpb G T 6: 72,283,876 (GRCm39) A158S probably benign Het
Sh2d2a A C 3: 87,754,976 (GRCm39) T23P probably damaging Het
Siglecf T C 7: 43,004,532 (GRCm39) L287P probably benign Het
Slc4a1 T A 11: 102,249,080 (GRCm39) I233F possibly damaging Het
Spef2 T C 15: 9,596,777 (GRCm39) Q1424R probably damaging Het
Tbc1d14 T C 5: 36,664,932 (GRCm39) D567G probably damaging Het
Tmem106b T G 6: 13,081,559 (GRCm39) N155K probably damaging Het
Vmn2r2 C A 3: 64,024,377 (GRCm39) V735F probably benign Het
Zfp850 T C 7: 27,689,743 (GRCm39) K155R probably benign 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
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
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'- CTGTCTTTGTGGAAGGAGACTC -3'
(R):5'- TGTGCACAGGAGAACCCTAG -3'

Sequencing Primer
(F):5'- CCAGAGTACTGCCAATTGTTTG -3'
(R):5'- GTAACCGCCAAGCTCTGCTC -3'
Posted On 2016-07-22