Incidental Mutation 'R6951:Dapk2'
| ID |
541274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dapk2
|
| Ensembl Gene |
ENSMUSG00000032380 |
| Gene Name |
death-associated protein kinase 2 |
| Synonyms |
|
| MMRRC Submission |
045063-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6951 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66065505-66179524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 66161904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 271
(R271G)
|
| 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: R271G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: R271G
| 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 |
|
| Meta Mutation Damage Score |
0.1011 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34a |
A |
G |
3: 96,505,738 (GRCm39) |
N314S |
possibly damaging |
Het |
| Arhgef3 |
A |
T |
14: 26,865,975 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,298 (GRCm39) |
R114G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,989 (GRCm39) |
L2097P |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,840 (GRCm39) |
V174A |
probably damaging |
Het |
| Dnase2a |
A |
T |
8: 85,636,254 (GRCm39) |
N130I |
possibly damaging |
Het |
| Dpp10 |
C |
T |
1: 123,269,379 (GRCm39) |
V677M |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,351,622 (GRCm39) |
C147Y |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,853,114 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,287,750 (GRCm39) |
T223A |
probably benign |
Het |
| Fndc5 |
G |
A |
4: 129,032,573 (GRCm39) |
V59I |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,293 (GRCm39) |
T2871A |
possibly damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,124,757 (GRCm39) |
I589V |
probably benign |
Het |
| Kitl |
A |
G |
10: 99,887,714 (GRCm39) |
I48V |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,843,047 (GRCm39) |
S159P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,653,180 (GRCm39) |
L2570P |
probably benign |
Het |
| Mag |
G |
A |
7: 30,610,858 (GRCm39) |
T128I |
possibly damaging |
Het |
| Mkrn3 |
G |
T |
7: 62,068,881 (GRCm39) |
D303E |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,051 (GRCm39) |
D1951G |
probably damaging |
Het |
| Nup85 |
C |
T |
11: 115,473,781 (GRCm39) |
T565I |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,323 (GRCm39) |
I85V |
possibly damaging |
Het |
| Or8b1d |
A |
G |
9: 38,558,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,234 (GRCm39) |
D22G |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,355,993 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,131,153 (GRCm39) |
|
probably null |
Het |
| Picalm |
T |
A |
7: 89,840,583 (GRCm39) |
N434K |
probably damaging |
Het |
| Platr25 |
A |
C |
13: 62,853,562 (GRCm39) |
D77E |
probably benign |
Het |
| Prr22 |
A |
T |
17: 57,079,028 (GRCm39) |
R394* |
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,636 (GRCm39) |
L57Q |
probably damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,375,774 (GRCm39) |
S44L |
possibly damaging |
Het |
| Rffl |
A |
G |
11: 82,736,576 (GRCm39) |
|
probably null |
Het |
| Stox2 |
G |
A |
8: 47,656,167 (GRCm39) |
T103I |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,273,019 (GRCm39) |
N543S |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,071,370 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,165,767 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Tssk5 |
C |
A |
15: 76,257,096 (GRCm39) |
R262L |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,710,986 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,873 (GRCm39) |
I134F |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,687,670 (GRCm39) |
F2351S |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,104 (GRCm39) |
D688E |
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 |
|
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 |
|
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'- AACTGGGTTAGACTGCACTG -3'
(R):5'- AGTGCATGCTCATGTAGACAG -3'
Sequencing Primer
(F):5'- CTGGGTTAGACTGCACTGAAAAATC -3'
(R):5'- GCTCATGTAGACAGAGACATTTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation