Incidental Mutation 'R2697:Cradd'
ID 251200
Institutional Source Beutler Lab
Gene Symbol Cradd
Ensembl Gene ENSMUSG00000045867
Gene Name CASP2 and RIPK1 domain containing adaptor with death domain
Synonyms RAIDD
MMRRC Submission 040435-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2697 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 95010608-95159995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95011807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 111 (L111P)
Ref Sequence ENSEMBL: ENSMUSP00000152022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053594] [ENSMUST00000217809] [ENSMUST00000220279]
AlphaFold O88843
Predicted Effect probably damaging
Transcript: ENSMUST00000053594
AA Change: L111P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050295
Gene: ENSMUSG00000045867
AA Change: L111P

DomainStartEndE-ValueType
CARD 1 92 2.92e-35 SMART
DEATH 106 198 1.07e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217809
AA Change: L111P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000220279
AA Change: L111P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T C 6: 132,603,619 (GRCm39) S46G unknown Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam7 A T 14: 68,752,232 (GRCm39) C417* probably null Het
Adgrl4 A C 3: 151,216,260 (GRCm39) Q481P probably damaging Het
Adra2c C A 5: 35,438,042 (GRCm39) N271K probably benign Het
Ahctf1 T C 1: 179,580,097 (GRCm39) K2035R probably damaging Het
Ano3 T C 2: 110,625,305 (GRCm39) T182A possibly damaging Het
Armc3 T C 2: 19,308,746 (GRCm39) Y805H probably damaging Het
BC024139 TCCACCACCACCACCACCAC TCCACCACCACCACCAC 15: 76,004,393 (GRCm39) probably benign Het
Cabp7 C T 11: 4,688,837 (GRCm39) R211H probably damaging Het
Ccdc117 T C 11: 5,484,888 (GRCm39) N112S possibly damaging Het
Cep120 C T 18: 53,873,197 (GRCm39) D45N probably benign Het
Cpsf1 T C 15: 76,483,529 (GRCm39) Y872C probably damaging Het
Crhr2 A G 6: 55,079,815 (GRCm39) L155P probably damaging Het
Fgd2 A T 17: 29,595,895 (GRCm39) T518S probably damaging Het
Gpam C T 19: 55,071,641 (GRCm39) E367K probably damaging Het
Gtf3c1 T A 7: 125,243,126 (GRCm39) N1826I probably damaging Het
Kcnq5 T C 1: 21,549,656 (GRCm39) E357G probably damaging Het
Krt1 T A 15: 101,755,364 (GRCm39) D465V probably damaging Het
Lcor T A 19: 41,572,466 (GRCm39) V407E probably benign Het
Macrod1 T C 19: 7,174,157 (GRCm39) V221A probably damaging Het
Mbd1 T C 18: 74,406,688 (GRCm39) S144P possibly damaging Het
Mtfmt T C 9: 65,359,303 (GRCm39) V326A probably benign Het
Myo1b T C 1: 51,902,517 (GRCm39) D71G probably benign Het
Myo1h A G 5: 114,493,274 (GRCm39) Y705C probably damaging Het
Nudt9 T C 5: 104,212,859 (GRCm39) W311R probably damaging Het
Or11g27 C T 14: 50,771,238 (GRCm39) A123V probably damaging Het
Or2a57 A T 6: 43,213,060 (GRCm39) I173F probably damaging Het
Or2h15 A G 17: 38,441,900 (GRCm39) F61S probably damaging Het
Or6c65 G A 10: 129,603,793 (GRCm39) V143I probably benign Het
Osbp2 A T 11: 3,813,407 (GRCm39) L154Q probably benign Het
P3h1 A G 4: 119,104,377 (GRCm39) T633A probably damaging Het
Polq T G 16: 36,862,515 (GRCm39) L616R probably damaging Het
Pon3 A G 6: 5,232,429 (GRCm39) L197S possibly damaging Het
Rap1gds1 C T 3: 138,689,482 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rfng C A 11: 120,674,865 (GRCm39) probably benign Het
Rps6ka2 T G 17: 7,567,721 (GRCm39) L728R probably benign Het
Slc41a3 C A 6: 90,619,302 (GRCm39) N360K possibly damaging Het
Sult1e1 T C 5: 87,726,397 (GRCm39) N239S probably damaging Het
Tacr1 T A 6: 82,469,578 (GRCm39) I154N probably damaging Het
Tacstd2 T A 6: 67,512,203 (GRCm39) H163L probably benign Het
Tent5a T C 9: 85,206,793 (GRCm39) D335G possibly damaging Het
Tiam1 T C 16: 89,590,052 (GRCm39) S1382G probably benign Het
Tmem43 A G 6: 91,456,911 (GRCm39) E164G possibly damaging Het
U2af2 G A 7: 5,070,545 (GRCm39) R78H probably benign Het
Yipf7 T A 5: 69,698,483 (GRCm39) D8V possibly damaging Het
Zfp58 G A 13: 67,639,124 (GRCm39) H456Y probably damaging Het
Zfp799 G A 17: 33,039,214 (GRCm39) R351* probably null Het
Zfyve9 T C 4: 108,553,016 (GRCm39) D715G probably damaging Het
Other mutations in Cradd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1155:Cradd UTSW 10 95,158,586 (GRCm39) missense probably benign 0.04
R2221:Cradd UTSW 10 95,011,735 (GRCm39) missense probably benign 0.24
R2223:Cradd UTSW 10 95,011,735 (GRCm39) missense probably benign 0.24
R5598:Cradd UTSW 10 95,011,666 (GRCm39) nonsense probably null
R5773:Cradd UTSW 10 95,011,823 (GRCm39) missense probably benign 0.03
R6864:Cradd UTSW 10 95,011,789 (GRCm39) missense probably damaging 1.00
R7358:Cradd UTSW 10 95,158,637 (GRCm39) missense probably damaging 0.99
R7920:Cradd UTSW 10 95,158,573 (GRCm39) missense probably damaging 1.00
R8836:Cradd UTSW 10 95,158,462 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTAAGCTTAGGAAGGTGGCC -3'
(R):5'- CTTCTGCAGTGAACACTTTTAAGAG -3'

Sequencing Primer
(F):5'- TGCTTCCCAAAACGCTGG -3'
(R):5'- TCTATGCCCCAGTATAGAGGAATGC -3'
Posted On 2014-12-04