Incidental Mutation 'R1375:Dapk2'
| ID |
157476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dapk2
|
| Ensembl Gene |
ENSMUSG00000032380 |
| Gene Name |
death-associated protein kinase 2 |
| Synonyms |
|
| MMRRC Submission |
039439-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1375 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66065505-66179524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 66127925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 68
(R68G)
|
| 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: R68G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: R68G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
285 |
6.26e-98 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129442
|
| 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 |
|
| Meta Mutation Damage Score |
0.7157 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.8%
- 20x: 89.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,243,042 (GRCm39) |
V1268A |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,225,354 (GRCm39) |
D78E |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,513,095 (GRCm39) |
|
probably null |
Het |
| Defb15 |
T |
C |
8: 22,420,071 (GRCm39) |
N19D |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,956,269 (GRCm39) |
G2083D |
probably damaging |
Het |
| Ggn |
T |
C |
7: 28,871,366 (GRCm39) |
S249P |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,825 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,268,435 (GRCm39) |
L514Q |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,547,246 (GRCm39) |
H678N |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,679 (GRCm39) |
I846T |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,232,854 (GRCm39) |
|
probably null |
Het |
| Il17b |
T |
C |
18: 61,823,325 (GRCm39) |
V53A |
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,753 (GRCm39) |
L166* |
probably null |
Het |
| Mdfic2 |
C |
T |
6: 98,215,260 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,653,568 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,543 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,177,006 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,484,039 (GRCm39) |
N11S |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,081 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,305 (GRCm39) |
L82P |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,506,241 (GRCm39) |
L12Q |
probably null |
Het |
| Or8b46 |
T |
A |
9: 38,450,830 (GRCm39) |
V213D |
possibly damaging |
Het |
| Pipox |
C |
A |
11: 77,772,036 (GRCm39) |
E363* |
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rpp30 |
T |
C |
19: 36,078,673 (GRCm39) |
|
probably null |
Het |
| Septin1 |
T |
C |
7: 126,817,333 (GRCm39) |
D25G |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,805,106 (GRCm39) |
N152D |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,626,029 (GRCm39) |
V1307A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,087,423 (GRCm39) |
N1180I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGGCCACTTTTCCAGTGTCTAC -3'
(R):5'- TGACTGCATCTTCTCTGGGCTGAG -3'
Sequencing Primer
(F):5'- AGTGTCTACACCTTACTTCTCTGTG -3'
(R):5'- CGACTTCATGGGTCCCAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation