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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |