Incidental Mutation 'IGL02736:Dapk2'
ID 305654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dapk2
Ensembl Gene ENSMUSG00000032380
Gene Name death-associated protein kinase 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02736
Quality Score
Status
Chromosome 9
Chromosomal Location 66065505-66179524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66176198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 333 (M333K)
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 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
A830018L16Rik G A 1: 12,042,275 (GRCm39) A416T probably benign Het
Aadacl4fm1 G A 4: 144,255,207 (GRCm39) R209K probably benign Het
Akap12 A G 10: 4,305,637 (GRCm39) I816V probably benign Het
Antxrl A G 14: 33,778,575 (GRCm39) probably benign Het
Atp1a3 G A 7: 24,679,534 (GRCm39) T920I probably damaging Het
Cd22 C T 7: 30,577,470 (GRCm39) probably null Het
Cntn3 T A 6: 102,180,900 (GRCm39) N765I probably damaging Het
Cracdl T C 1: 37,676,954 (GRCm39) E76G probably damaging Het
Crebbp G A 16: 3,972,774 (GRCm39) P307S probably benign Het
Decr1 T A 4: 15,930,952 (GRCm39) T127S probably benign Het
Dnmbp A T 19: 43,838,209 (GRCm39) probably benign Het
Erbin A G 13: 103,975,903 (GRCm39) S664P probably damaging Het
Hectd4 G T 5: 121,480,782 (GRCm39) C2941F possibly damaging Het
Ighv1-4 A G 12: 114,450,872 (GRCm39) Y79H probably benign Het
Matn3 T A 12: 9,005,422 (GRCm39) D277E possibly damaging Het
Mgarp C A 3: 51,303,866 (GRCm39) A36S possibly damaging Het
Mycbp2 A G 14: 103,351,678 (GRCm39) probably benign Het
Nynrin G A 14: 56,108,366 (GRCm39) A1158T probably damaging Het
Or4k5 G A 14: 50,385,881 (GRCm39) A150V probably benign Het
Or6k14 T G 1: 173,927,213 (GRCm39) I63S probably damaging Het
Pakap C A 4: 57,709,721 (GRCm39) A222E probably damaging Het
Pkd1l2 T C 8: 117,767,405 (GRCm39) D1295G probably benign Het
Ppig A G 2: 69,566,438 (GRCm39) I171M probably damaging Het
Ptprs A T 17: 56,765,248 (GRCm39) V12E possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rpgrip1l T A 8: 91,990,219 (GRCm39) Q741L possibly damaging Het
Slco6d1 T C 1: 98,356,036 (GRCm39) V157A possibly damaging Het
Sox6 A C 7: 115,179,875 (GRCm39) D302E probably damaging Het
Spata3 T C 1: 85,952,157 (GRCm39) V136A probably damaging Het
St6galnac6 G A 2: 32,504,983 (GRCm39) R129H probably benign Het
Tmem184c A T 8: 78,324,475 (GRCm39) D338E probably damaging Het
Tmem67 A G 4: 12,045,789 (GRCm39) probably null Het
Ttn A T 2: 76,708,614 (GRCm39) probably benign Het
Usp16 T C 16: 87,261,723 (GRCm39) V113A possibly damaging Het
Utrn A G 10: 12,297,384 (GRCm39) Y675H probably damaging Het
Zc3h4 T A 7: 16,151,308 (GRCm39) Y117* probably null Het
Zc3h7b A T 15: 81,676,175 (GRCm39) M694L probably benign Het
Zfp345 A T 2: 150,316,474 (GRCm39) Y45N 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
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
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
Posted On 2015-04-16