Incidental Mutation 'R3160:Dapk2'
ID 258110
Institutional Source Beutler Lab
Gene Symbol Dapk2
Ensembl Gene ENSMUSG00000032380
Gene Name death-associated protein kinase 2
Synonyms
MMRRC Submission 040611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3160 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 66065505-66179524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 66161893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 267 (V267G)
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: V267G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: V267G

DomainStartEndE-ValueType
S_TKc 23 285 6.26e-98 SMART
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 0.2185 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A 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
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
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
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'- GTGAACTGGGTTAGACTGCAC -3'
(R):5'- GTGCATGCTCATGTAGACAGAG -3'

Sequencing Primer
(F):5'- CTGGGTTAGACTGCACTGAAAAATC -3'
(R):5'- GCTCATGTAGACAGAGACATTTG -3'
Posted On 2015-01-23