Incidental Mutation 'R1155:Cradd'
ID101674
Institutional Source Beutler Lab
Gene Symbol Cradd
Ensembl Gene ENSMUSG00000045867
Gene NameCASP2 and RIPK1 domain containing adaptor with death domain
SynonymsRAIDD
MMRRC Submission 039228-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1155 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location95174746-95324133 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95322724 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 54 (T54A)
Ref Sequence ENSEMBL: ENSMUSP00000152022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053594] [ENSMUST00000217809] [ENSMUST00000220279]
Predicted Effect probably benign
Transcript: ENSMUST00000053594
AA Change: T54A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000050295
Gene: ENSMUSG00000045867
AA Change: T54A

DomainStartEndE-ValueType
CARD 1 92 2.92e-35 SMART
DEATH 106 198 1.07e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217809
AA Change: T54A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218761
Predicted Effect probably benign
Transcript: ENSMUST00000220279
AA Change: T54A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220446
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with mental retardation. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutants exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,517,270 E121G possibly damaging Het
Adgrg1 G A 8: 95,006,840 V307I possibly damaging Het
Btbd11 A T 10: 85,629,291 H665L probably damaging Het
Cilp A G 9: 65,269,587 T42A probably benign Het
Col6a3 T A 1: 90,794,325 K1493M probably null Het
Col6a6 A G 9: 105,782,090 V552A possibly damaging Het
Elfn2 A G 15: 78,673,144 I401T probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,577,224 probably null Het
Hoxc6 A G 15: 103,010,847 I172V probably damaging Het
Knl1 T C 2: 119,071,154 L1112P possibly damaging Het
Lipo4 T A 19: 33,503,195 I258F probably benign Het
Morf4l1 A G 9: 90,094,504 V257A probably benign Het
Olfr570 A T 7: 102,900,612 M82L probably benign Het
Rnpepl1 T A 1: 92,916,887 M367K probably damaging Het
Robo2 A G 16: 74,035,108 L228P probably damaging Het
Samd9l T A 6: 3,376,939 E107D probably benign Het
Shc1 A G 3: 89,424,819 I194V probably benign Het
Slc25a46 A G 18: 31,583,615 I278T probably benign Het
Tmem178 T A 17: 81,001,000 C275S possibly damaging Het
Tpsg1 A T 17: 25,373,794 Q40L possibly damaging Het
Trank1 A G 9: 111,366,970 E1354G possibly damaging Het
Vit T C 17: 78,566,027 I44T probably damaging Het
Vstm5 T C 9: 15,257,553 S138P probably damaging Het
Other mutations in Cradd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2221:Cradd UTSW 10 95175873 missense probably benign 0.24
R2223:Cradd UTSW 10 95175873 missense probably benign 0.24
R2697:Cradd UTSW 10 95175945 missense probably damaging 1.00
R5598:Cradd UTSW 10 95175804 nonsense probably null
R5773:Cradd UTSW 10 95175961 missense probably benign 0.03
R6864:Cradd UTSW 10 95175927 missense probably damaging 1.00
R7358:Cradd UTSW 10 95322775 missense probably damaging 0.99
R7920:Cradd UTSW 10 95322711 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15