Incidental Mutation 'IGL02736:Dapk2'
ID305654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dapk2
Ensembl Gene ENSMUSG00000032380
Gene Namedeath-associated protein kinase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02736
Quality Score
Status
Chromosome9
Chromosomal Location66158223-66272242 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66268916 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 333 (M333K)
Ref Sequence ENSEMBL: ENSMUSP00000034944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034944]
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 benign
Transcript: ENSMUST00000034944
AA Change: M333K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: M333K

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
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,637,873 E76G probably damaging Het
9430007A20Rik G A 4: 144,528,637 R209K probably benign Het
A830018L16Rik G A 1: 11,972,051 A416T probably benign Het
Akap12 A G 10: 4,355,637 I816V probably benign Het
Antxrl A G 14: 34,056,618 probably benign Het
Atp1a3 G A 7: 24,980,109 T920I probably damaging Het
Cd22 C T 7: 30,878,045 probably null Het
Cntn3 T A 6: 102,203,939 N765I probably damaging Het
Crebbp G A 16: 4,154,910 P307S probably benign Het
Decr1 T A 4: 15,930,952 T127S probably benign Het
Dnmbp A T 19: 43,849,770 probably benign Het
Erbin A G 13: 103,839,395 S664P probably damaging Het
Hectd4 G T 5: 121,342,719 C2941F possibly damaging Het
Ighv1-4 A G 12: 114,487,252 Y79H probably benign Het
Matn3 T A 12: 8,955,422 D277E possibly damaging Het
Mgarp C A 3: 51,396,445 A36S possibly damaging Het
Mycbp2 A G 14: 103,114,242 probably benign Het
Nynrin G A 14: 55,870,909 A1158T probably damaging Het
Olfr427 T G 1: 174,099,647 I63S probably damaging Het
Olfr729 G A 14: 50,148,424 A150V probably benign Het
Palm2 C A 4: 57,709,721 A222E probably damaging Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Ppig A G 2: 69,736,094 I171M probably damaging Het
Ptprs A T 17: 56,458,248 V12E possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rpgrip1l T A 8: 91,263,591 Q741L possibly damaging Het
Slco6d1 T C 1: 98,428,311 V157A possibly damaging Het
Sox6 A C 7: 115,580,640 D302E probably damaging Het
Spata3 T C 1: 86,024,435 V136A probably damaging Het
St6galnac6 G A 2: 32,614,971 R129H probably benign Het
Tmem184c A T 8: 77,597,846 D338E probably damaging Het
Tmem67 A G 4: 12,045,789 probably null Het
Ttn A T 2: 76,878,270 probably benign Het
Usp16 T C 16: 87,464,835 V113A possibly damaging Het
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Zc3h4 T A 7: 16,417,383 Y117* probably null Het
Zc3h7b A T 15: 81,791,974 M694L probably benign Het
Zfp345 A T 2: 150,474,554 Y45N probably damaging Het
Other mutations in Dapk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Dapk2 APN 9 66268778 splice site probably benign
IGL01304:Dapk2 APN 9 66231857 splice site probably benign
IGL02053:Dapk2 APN 9 66220745 missense probably benign 0.02
IGL02351:Dapk2 APN 9 66246523 missense probably damaging 0.99
IGL02358:Dapk2 APN 9 66246523 missense probably damaging 0.99
IGL02742:Dapk2 APN 9 66231814 missense probably damaging 1.00
PIT4618001:Dapk2 UTSW 9 66268686 missense probably benign 0.01
R0367:Dapk2 UTSW 9 66268886 missense probably damaging 0.99
R1375:Dapk2 UTSW 9 66220643 missense probably damaging 0.97
R1376:Dapk2 UTSW 9 66220643 missense probably damaging 0.97
R1376:Dapk2 UTSW 9 66220643 missense probably damaging 0.97
R1752:Dapk2 UTSW 9 66220643 missense probably damaging 0.97
R1924:Dapk2 UTSW 9 66165360 missense probably benign 0.05
R1981:Dapk2 UTSW 9 66268898 missense probably benign 0.00
R3160:Dapk2 UTSW 9 66254611 missense probably damaging 0.99
R3161:Dapk2 UTSW 9 66254611 missense probably damaging 0.99
R3162:Dapk2 UTSW 9 66254611 missense probably damaging 0.99
R3162:Dapk2 UTSW 9 66254611 missense probably damaging 0.99
R5394:Dapk2 UTSW 9 66268718 missense probably benign 0.00
R6750:Dapk2 UTSW 9 66220752 missense probably damaging 1.00
R6951:Dapk2 UTSW 9 66254622 missense probably benign 0.01
R6952:Dapk2 UTSW 9 66254622 missense probably benign 0.01
R6953:Dapk2 UTSW 9 66254622 missense probably benign 0.01
R8304:Dapk2 UTSW 9 66231745 missense possibly damaging 0.55
Z1088:Dapk2 UTSW 9 66246477 missense possibly damaging 0.56
Posted On2015-04-16