Incidental Mutation 'PIT4618001:Dapk2'
ID |
555703 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4618001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
66065505-66179524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66175968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 289
(D289G)
|
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: D289G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000034944 Gene: ENSMUSG00000032380 AA Change: D289G
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
285 |
6.26e-98 |
SMART |
|
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 |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGGATACCTTCTGGGCAG -3'
(R):5'- TTGCACAAGGAGACGATGCTG -3'
Sequencing Primer
(F):5'- GCAGCGAGACATTTGTAGCTTCC -3'
(R):5'- CAAGGAGACGATGCTGAAGGAC -3'
|
Posted On |
2019-06-07 |