Incidental Mutation 'IGL02742:Dapk2'
| ID |
305951 |
| 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 # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
66065505-66179524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66139096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 139
(Y139C)
|
| 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: Y139C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: Y139C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
285 |
6.26e-98 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132987
AA Change: Y37C
|
| SMART Domains |
Protein: ENSMUSP00000117134
Gene: ENSMUSG00000032380
AA Change: Y37C
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly 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 |
|
IGL02736:Dapk2
|
APN |
9 |
66,176,198 (GRCm39) |
missense |
probably benign |
|
|
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 |
Incidental Mutation