Incidental Mutation 'R0367:Dapk2'
ID 30284
Institutional Source Beutler Lab
Gene Symbol Dapk2
Ensembl Gene ENSMUSG00000032380
Gene Name death-associated protein kinase 2
Synonyms
MMRRC Submission 038573-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0367 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 66065505-66179524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66176168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 323 (S323F)
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: S323F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: S323F

DomainStartEndE-ValueType
S_TKc 23 285 6.26e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129778
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 0.4393 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,049,961 (GRCm39) S12P probably damaging Het
Alx4 T A 2: 93,498,953 (GRCm39) D228E probably damaging Het
Antxr2 T C 5: 98,177,455 (GRCm39) E71G probably benign Het
Arhgap19 C A 19: 41,790,417 (GRCm39) G17V probably benign Het
C8a A C 4: 104,719,791 (GRCm39) probably null Het
Ccne2 T A 4: 11,201,426 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,425 (GRCm39) C317Y probably damaging Het
Cend1 C A 7: 141,007,808 (GRCm39) R4L probably damaging Het
Cfap44 T C 16: 44,253,839 (GRCm39) probably null Het
Cpt1c T C 7: 44,608,999 (GRCm39) N774S probably benign Het
Csmd1 C T 8: 15,967,270 (GRCm39) D3198N probably damaging Het
Ddx60 T G 8: 62,470,783 (GRCm39) I1425R possibly damaging Het
Edem1 T A 6: 108,823,713 (GRCm39) Y370N probably damaging Het
Elp5 A G 11: 69,865,967 (GRCm39) V103A probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fat1 A G 8: 45,477,350 (GRCm39) D2132G probably damaging Het
Fat2 A T 11: 55,182,919 (GRCm39) probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gp2 C T 7: 119,053,791 (GRCm39) D57N probably damaging Het
Gpr161 T C 1: 165,144,805 (GRCm39) probably benign Het
Gstcd G A 3: 132,692,138 (GRCm39) probably benign Het
Hipk3 A T 2: 104,261,594 (GRCm39) C980* probably null Het
Htr2a A T 14: 74,879,649 (GRCm39) I93L probably damaging Het
Itpr2 T G 6: 146,135,506 (GRCm39) K1775N probably damaging Het
Kcnt1 G A 2: 25,797,640 (GRCm39) V864I probably damaging Het
Kcnt2 A T 1: 140,278,963 (GRCm39) Y38F probably damaging Het
Limch1 G A 5: 67,015,297 (GRCm39) probably null Het
Lmtk2 C T 5: 144,111,103 (GRCm39) R608C possibly damaging Het
Loxhd1 C T 18: 77,513,453 (GRCm39) probably benign Het
Lpin2 A T 17: 71,522,017 (GRCm39) E17V probably damaging Het
Lrrc34 A T 3: 30,684,142 (GRCm39) F342I probably benign Het
Lyzl6 A G 11: 103,527,578 (GRCm39) probably null Het
Map3k4 A C 17: 12,476,928 (GRCm39) probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or1ad8 A G 11: 50,897,904 (GRCm39) Y35C probably damaging Het
Or4c52 A C 2: 89,846,116 (GRCm39) I281L probably damaging Het
Or7e168 G T 9: 19,719,839 (GRCm39) S75I probably damaging Het
Pcare G T 17: 72,057,471 (GRCm39) F735L probably damaging Het
Pdzrn4 A G 15: 92,655,538 (GRCm39) E477G possibly damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rims2 G T 15: 39,326,011 (GRCm39) probably null Het
Samd4b C T 7: 28,122,873 (GRCm39) A62T probably damaging Het
Scamp1 T C 13: 94,347,088 (GRCm39) N192S probably benign Het
Scnn1g T C 7: 121,345,802 (GRCm39) probably benign Het
Setd1a T G 7: 127,387,358 (GRCm39) probably benign Het
Setdb1 A G 3: 95,257,192 (GRCm39) probably benign Het
Slc2a7 T C 4: 150,250,823 (GRCm39) S415P probably benign Het
Sp140l2 G T 1: 85,247,824 (GRCm39) probably benign Het
Strip2 A T 6: 29,937,650 (GRCm39) Y526F possibly damaging Het
Styxl2 T A 1: 165,928,332 (GRCm39) T427S probably benign Het
Syne2 A G 12: 75,926,951 (GRCm39) D69G probably damaging Het
Syt13 C A 2: 92,745,596 (GRCm39) A22E probably benign Het
Tm9sf2 T C 14: 122,392,780 (GRCm39) F432S probably benign Het
Vmn2r49 A T 7: 9,710,357 (GRCm39) W792R probably damaging Het
Zfp292 T C 4: 34,808,227 (GRCm39) S1606G probably benign Het
Zfp518a A T 19: 40,900,665 (GRCm39) H198L probably damaging 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
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
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'- GCCATTTGAAGCCCAGTTGACACC -3'
(R):5'- ACTTCAGCCTTCAGGGCAGAAGAG -3'

Sequencing Primer
(F):5'- CTATGGTACGCAGAGAGTCC -3'
(R):5'- GCAGAAGAGGACAAGGCTTAC -3'
Posted On 2013-04-24