Incidental Mutation 'R1376:Dapk2'
ID 262776
Institutional Source Beutler Lab
Gene Symbol Dapk2
Ensembl Gene ENSMUSG00000032380
Gene Name death-associated protein kinase 2
Synonyms
MMRRC Submission 039440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1376 (G1)
Quality Score 114
Status Not validated
Chromosome 9
Chromosomal Location 66065505-66179524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 66127925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 68 (R68G)
Ref Sequence ENSEMBL: ENSMUSP00000034944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034944]
AlphaFold Q8VDF3
PDB Structure CRYSTAL STRUCTURE OF THE AUTOINHIBITED FORM OF MOUSE DAPK2 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE AUTOINHIBITED FORM OF MOUSE DAPK2 IN COMPLEX WITH ATP [X-RAY DIFFRACTION]
Crystal structure of the autoinhibited form of mouse DAPK2 in complex with AMP [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000034944
AA Change: R68G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: R68G

DomainStartEndE-ValueType
S_TKc 23 285 6.26e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129442
Predicted Effect probably benign
Transcript: ENSMUST00000132987
SMART Domains Protein: ENSMUSP00000117134
Gene: ENSMUSG00000032380

DomainStartEndE-ValueType
Pfam:Pkinase 1 52 2e-14 PFAM
Pfam:Pkinase_Tyr 1 53 1.7e-9 PFAM
Meta Mutation Damage Score 0.7157 question?
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 96.7%
  • 10x: 90.4%
  • 20x: 75.5%
Validation Efficiency 100% (3/3)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,254,735 (GRCm39) I362N possibly damaging Het
9130023H24Rik A G 7: 127,836,182 (GRCm39) V137A probably benign Het
Adal A G 2: 120,983,011 (GRCm39) D177G probably damaging Het
Cdcp2 G T 4: 106,959,956 (GRCm39) V124F possibly damaging Het
Ceacam3 T C 7: 16,897,088 (GRCm39) C685R probably damaging Het
Cfd T C 10: 79,727,986 (GRCm39) I174T possibly damaging Het
Ehd1 C T 19: 6,344,418 (GRCm39) T226M probably damaging Het
Elp5 A G 11: 69,865,916 (GRCm39) V120A probably benign Het
Fzd1 G A 5: 4,807,174 (GRCm39) T136M possibly damaging Het
Galntl5 G T 5: 25,391,286 (GRCm39) V62F probably benign Het
Josd2 C A 7: 44,120,539 (GRCm39) P50H probably damaging Het
Lect2 T A 13: 56,690,577 (GRCm39) I133F probably damaging Het
Lifr A G 15: 7,214,245 (GRCm39) T700A probably benign Het
Lpl T C 8: 69,340,250 (GRCm39) W82R probably damaging Het
Man2a1 C T 17: 64,979,038 (GRCm39) R523C possibly damaging Het
Mast4 T C 13: 102,872,916 (GRCm39) K1959E possibly damaging Het
Minar1 T C 9: 89,473,299 (GRCm39) T871A probably damaging Het
Or10ag57 A G 2: 87,218,162 (GRCm39) M38V probably benign Het
Or10ag58 C T 2: 87,264,903 (GRCm39) S24L possibly damaging Het
Pde4dip A G 3: 97,650,533 (GRCm39) V963A probably damaging Het
Pdgfd A G 9: 6,376,994 (GRCm39) I357V probably benign Het
Pold1 T C 7: 44,189,986 (GRCm39) D400G probably damaging Het
Ppp1r12a T C 10: 108,034,779 (GRCm39) I108T probably damaging Het
Rimbp2 G C 5: 128,847,355 (GRCm39) P931A possibly damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sf3b1 A T 1: 55,058,424 (GRCm39) V55E probably damaging Het
Sult2a2 T C 7: 13,468,696 (GRCm39) V54A probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Taok3 T C 5: 117,404,026 (GRCm39) Y734H probably damaging Het
Tasor A G 14: 27,151,338 (GRCm39) K105E probably benign Het
Tuba3b A G 6: 145,564,500 (GRCm39) E90G possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Other mutations in Dapk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Dapk2 APN 9 66,176,060 (GRCm39) splice site probably benign
IGL01304:Dapk2 APN 9 66,139,139 (GRCm39) splice site probably benign
IGL02053:Dapk2 APN 9 66,128,027 (GRCm39) missense probably benign 0.02
IGL02351:Dapk2 APN 9 66,153,805 (GRCm39) missense probably damaging 0.99
IGL02358:Dapk2 APN 9 66,153,805 (GRCm39) missense probably damaging 0.99
IGL02736:Dapk2 APN 9 66,176,198 (GRCm39) missense probably benign
IGL02742:Dapk2 APN 9 66,139,096 (GRCm39) missense probably damaging 1.00
PIT4618001:Dapk2 UTSW 9 66,175,968 (GRCm39) missense probably benign 0.01
R0367:Dapk2 UTSW 9 66,176,168 (GRCm39) missense probably damaging 0.99
R1375:Dapk2 UTSW 9 66,127,925 (GRCm39) missense probably damaging 0.97
R1376:Dapk2 UTSW 9 66,127,925 (GRCm39) missense probably damaging 0.97
R1752:Dapk2 UTSW 9 66,127,925 (GRCm39) missense probably damaging 0.97
R1924:Dapk2 UTSW 9 66,072,642 (GRCm39) missense probably benign 0.05
R1981:Dapk2 UTSW 9 66,176,180 (GRCm39) missense probably benign 0.00
R3160:Dapk2 UTSW 9 66,161,893 (GRCm39) missense probably damaging 0.99
R3161:Dapk2 UTSW 9 66,161,893 (GRCm39) missense probably damaging 0.99
R3162:Dapk2 UTSW 9 66,161,893 (GRCm39) missense probably damaging 0.99
R3162:Dapk2 UTSW 9 66,161,893 (GRCm39) missense probably damaging 0.99
R5394:Dapk2 UTSW 9 66,176,000 (GRCm39) missense probably benign 0.00
R6750:Dapk2 UTSW 9 66,128,034 (GRCm39) missense probably damaging 1.00
R6951:Dapk2 UTSW 9 66,161,904 (GRCm39) missense probably benign 0.01
R6952:Dapk2 UTSW 9 66,161,904 (GRCm39) missense probably benign 0.01
R6953:Dapk2 UTSW 9 66,161,904 (GRCm39) missense probably benign 0.01
R8304:Dapk2 UTSW 9 66,139,027 (GRCm39) missense possibly damaging 0.55
R8987:Dapk2 UTSW 9 66,157,602 (GRCm39) intron probably benign
Z1088:Dapk2 UTSW 9 66,153,759 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- CTGGAGTATGCAGCCAAGTTCAT -3'
(R):5'- GGATAAGGGAGGCAAAAGGAAAC -3'

Posted On 2015-02-04