Incidental Mutation 'R6864:Cradd'
ID 535816
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 044964-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6864 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 95010608-95159995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95011789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 117 (D117G)
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: D117G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050295
Gene: ENSMUSG00000045867
AA Change: D117G

DomainStartEndE-ValueType
CARD 1 92 2.92e-35 SMART
DEATH 106 198 1.07e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217809
AA Change: D117G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000220279
AA Change: D117G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2854 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Anln A T 9: 22,293,545 (GRCm39) S33T probably benign Het
Anxa6 T C 11: 54,877,011 (GRCm39) T541A probably benign Het
Atxn2 C T 5: 121,917,557 (GRCm39) R334W probably damaging Het
AU040320 T A 4: 126,741,612 (GRCm39) V940D probably damaging Het
Bcl2 A T 1: 106,471,011 (GRCm39) Y232N probably damaging Het
Bmp7 A G 2: 172,781,855 (GRCm39) V3A probably benign Het
Calr A T 8: 85,571,557 (GRCm39) H145Q probably damaging Het
Camta2 T A 11: 70,562,792 (GRCm39) T976S probably benign Het
Ccnk G A 12: 108,168,473 (GRCm39) probably benign Het
Cntln T C 4: 85,015,029 (GRCm39) S1107P probably damaging Het
Dcaf7 C T 11: 105,937,647 (GRCm39) T90I probably damaging Het
Defb30 T A 14: 63,273,552 (GRCm39) probably null Het
Dock4 T A 12: 40,795,745 (GRCm39) I854N probably damaging Het
Dym T A 18: 75,189,809 (GRCm39) Y132* probably null Het
Eef1a2 T C 2: 180,791,477 (GRCm39) T341A probably benign Het
Eml2 T C 7: 18,930,206 (GRCm39) V309A probably damaging Het
Flnb C T 14: 7,905,640 (GRCm38) P1130L possibly damaging Het
Hivep3 C A 4: 119,952,085 (GRCm39) Q134K possibly damaging Het
Kbtbd2 T A 6: 56,757,011 (GRCm39) K242* probably null Het
Kel A G 6: 41,680,694 (GRCm39) probably null Het
Lcorl T A 5: 45,904,546 (GRCm39) K177N probably damaging Het
Mbd3l2 A G 9: 18,354,795 (GRCm39) probably benign Het
Mcm3ap A G 10: 76,343,313 (GRCm39) D1735G probably damaging Het
Ms4a1 C A 19: 11,230,542 (GRCm39) probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mylk C A 16: 34,694,520 (GRCm39) P193Q probably benign Het
Or1j11 T A 2: 36,311,832 (GRCm39) C141S probably damaging Het
Or2y16 G T 11: 49,334,767 (GRCm39) A30S probably benign Het
Or2y17 A T 11: 49,231,580 (GRCm39) T74S probably damaging Het
Or4d10b A T 19: 12,036,777 (GRCm39) F113Y probably damaging Het
Or4f52 C T 2: 111,061,542 (GRCm39) V199I probably benign Het
Otogl C T 10: 107,663,667 (GRCm39) S968N probably damaging Het
Oxr1 T G 15: 41,686,783 (GRCm39) V555G probably damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Peg3 T C 7: 6,715,761 (GRCm39) Y103C probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Prkacb T C 3: 146,451,133 (GRCm39) Y204C probably damaging Het
Prkch A G 12: 73,806,391 (GRCm39) E546G probably damaging Het
Prss12 C A 3: 123,241,033 (GRCm39) H76N probably benign Het
Rai14 G T 15: 10,633,254 (GRCm39) S45R possibly damaging Het
Samd9l T A 6: 3,374,750 (GRCm39) D837V probably benign Het
Slc22a6 G T 19: 8,595,805 (GRCm39) C49F probably damaging Het
Slc2a2 T A 3: 28,775,874 (GRCm39) I328N probably damaging Het
Slc35f4 T C 14: 49,556,310 (GRCm39) I148V possibly damaging Het
Stk32b A T 5: 37,606,149 (GRCm39) probably null Het
Tasor T A 14: 27,183,115 (GRCm39) F525I probably damaging Het
Tktl2 T C 8: 66,964,991 (GRCm39) I183T probably damaging Het
Tmem175 A C 5: 108,793,845 (GRCm39) H325P probably damaging Het
Tns3 A G 11: 8,443,196 (GRCm39) V389A probably damaging Het
Trappc9 A T 15: 72,809,011 (GRCm39) probably null Het
Trim28 T A 7: 12,763,385 (GRCm39) F509I possibly damaging Het
Vmn1r210 T A 13: 23,011,713 (GRCm39) Q191L probably benign Het
Vmn2r24 A T 6: 123,756,117 (GRCm39) D63V possibly damaging Het
Zfp536 A G 7: 37,267,940 (GRCm39) L492P probably damaging Het
Zfp831 C A 2: 174,488,533 (GRCm39) N1069K possibly damaging Het
Zfp943 T A 17: 22,211,593 (GRCm39) H226Q 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
R2697:Cradd UTSW 10 95,011,807 (GRCm39) missense probably damaging 1.00
R5598:Cradd UTSW 10 95,011,666 (GRCm39) nonsense probably null
R5773:Cradd UTSW 10 95,011,823 (GRCm39) missense probably benign 0.03
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'- AAAGTCCGGTTCAGCCAGTG -3'
(R):5'- TTCAGCCCACGAAACTGAG -3'

Sequencing Primer
(F):5'- TCAGCCAGTGTGACTTGGGAAC -3'
(R):5'- GCCCACGAAACTGAGCAGTAC -3'
Posted On 2018-10-18