Incidental Mutation 'R5963:Mapkapk5'
| ID |
471869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkapk5
|
| Ensembl Gene |
ENSMUSG00000029454 |
| Gene Name |
MAP kinase-activated protein kinase 5 |
| Synonyms |
MK5, PRAK |
| MMRRC Submission |
044148-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5963 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121663114-121683955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121676544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 66
(H66N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031410]
[ENSMUST00000111782]
[ENSMUST00000111783]
[ENSMUST00000111786]
[ENSMUST00000125946]
[ENSMUST00000196315]
[ENSMUST00000200170]
|
| AlphaFold |
O54992 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031410
AA Change: H66N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
AA Change: H66N
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
409 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111781
|
| SMART Domains |
Protein: ENSMUSP00000107411
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
200 |
1.9e-15 |
PFAM |
|
Pfam:Pkinase
|
1 |
203 |
1.2e-48 |
PFAM |
|
coiled coil region
|
308 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111782
|
| SMART Domains |
Protein: ENSMUSP00000107412
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
6 |
155 |
3.7e-27 |
PFAM |
|
coiled coil region
|
258 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111783
AA Change: H66N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
AA Change: H66N
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111786
|
| SMART Domains |
Protein: ENSMUSP00000107416
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
6 |
155 |
3.8e-27 |
PFAM |
|
coiled coil region
|
260 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125946
AA Change: H66N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
AA Change: H66N
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
5.3e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131914
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196315
AA Change: H66N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142346
Gene: ENSMUSG00000029454
AA Change: H66N
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
22 |
179 |
4.1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153763
|
| SMART Domains |
Protein: ENSMUSP00000119182
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200170
AA Change: H66N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
AA Change: H66N
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151352
|
| Meta Mutation Damage Score |
0.3806 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutant mice are viable, fertile, and show no overt abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
A |
G |
7: 97,029,037 (GRCm39) |
K131E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,823,056 (GRCm39) |
L575* |
probably null |
Het |
| Aqr |
T |
C |
2: 113,957,442 (GRCm39) |
T819A |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,807,659 (GRCm39) |
S407T |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,286,889 (GRCm39) |
C272S |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,553,192 (GRCm39) |
|
probably null |
Het |
| C5ar1 |
A |
G |
7: 15,982,747 (GRCm39) |
V91A |
possibly damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,411,579 (GRCm39) |
H649R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,734,013 (GRCm39) |
V1451E |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,231,511 (GRCm39) |
M901L |
probably damaging |
Het |
| Cherp |
G |
T |
8: 73,215,379 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,078,630 (GRCm39) |
V1229I |
possibly damaging |
Het |
| Fat4 |
A |
C |
3: 39,064,696 (GRCm39) |
D4884A |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,480 (GRCm39) |
F243L |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,262,487 (GRCm39) |
I776F |
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,690 (GRCm39) |
R272* |
probably null |
Het |
| Gsdmc |
A |
T |
15: 63,651,965 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
A |
8: 111,220,926 (GRCm39) |
F1441I |
possibly damaging |
Het |
| Ints11 |
T |
A |
4: 155,957,369 (GRCm39) |
C63* |
probably null |
Het |
| Kdm4b |
A |
T |
17: 56,706,732 (GRCm39) |
T908S |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,058,700 (GRCm39) |
D304G |
probably damaging |
Het |
| Man2a1 |
T |
G |
17: 64,982,117 (GRCm39) |
N544K |
probably benign |
Het |
| Mog |
G |
A |
17: 37,323,240 (GRCm39) |
R233* |
probably null |
Het |
| Mrps24 |
A |
T |
11: 5,657,481 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,642,768 (GRCm39) |
L423P |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,168 (GRCm39) |
V174E |
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 37,064,224 (GRCm39) |
V296E |
probably damaging |
Het |
| Pdcd2 |
T |
C |
17: 15,746,656 (GRCm39) |
K168E |
possibly damaging |
Het |
| Pdcd2 |
G |
T |
17: 15,746,657 (GRCm39) |
H167Q |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,780 (GRCm39) |
V63D |
probably damaging |
Het |
| Pnn |
C |
T |
12: 59,114,617 (GRCm39) |
R56* |
probably null |
Het |
| Primpol |
T |
A |
8: 47,046,615 (GRCm39) |
E227V |
possibly damaging |
Het |
| Rad54l |
A |
T |
4: 115,967,584 (GRCm39) |
W233R |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,300,578 (GRCm39) |
D103V |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,091,819 (GRCm39) |
S1511P |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,442,962 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
A |
13: 54,673,632 (GRCm39) |
I660K |
possibly damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,691 (GRCm39) |
L75P |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,721,196 (GRCm39) |
S55G |
possibly damaging |
Het |
| Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,046 (GRCm39) |
V242A |
probably benign |
Het |
| St14 |
A |
T |
9: 31,017,853 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
T |
C |
1: 135,771,600 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
G |
A |
1: 191,731,977 (GRCm39) |
T288I |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,625,263 (GRCm39) |
|
noncoding transcript |
Het |
| Vegfc |
A |
G |
8: 54,634,319 (GRCm39) |
N333D |
probably benign |
Het |
| Vmn1r65 |
T |
A |
7: 6,011,608 (GRCm39) |
I209F |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,118,320 (GRCm39) |
L725P |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,288,871 (GRCm39) |
I408T |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,052,310 (GRCm39) |
Y114H |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,918 (GRCm39) |
E164G |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,355,362 (GRCm39) |
|
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,615,103 (GRCm39) |
T453A |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,378 (GRCm39) |
G357C |
probably damaging |
Het |
| Zmynd11 |
G |
T |
13: 9,745,931 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mapkapk5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00938:Mapkapk5
|
APN |
5 |
121,675,166 (GRCm39) |
splice site |
probably benign |
|
|
R1015:Mapkapk5
|
UTSW |
5 |
121,671,425 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2180:Mapkapk5
|
UTSW |
5 |
121,673,927 (GRCm39) |
splice site |
probably null |
|
|
R4445:Mapkapk5
|
UTSW |
5 |
121,663,291 (GRCm39) |
missense |
probably benign |
|
|
R4539:Mapkapk5
|
UTSW |
5 |
121,675,218 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5217:Mapkapk5
|
UTSW |
5 |
121,672,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Mapkapk5
|
UTSW |
5 |
121,671,454 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5422:Mapkapk5
|
UTSW |
5 |
121,669,785 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6378:Mapkapk5
|
UTSW |
5 |
121,677,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7021:Mapkapk5
|
UTSW |
5 |
121,665,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7303:Mapkapk5
|
UTSW |
5 |
121,678,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7360:Mapkapk5
|
UTSW |
5 |
121,675,169 (GRCm39) |
splice site |
probably benign |
|
|
R7432:Mapkapk5
|
UTSW |
5 |
121,675,234 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7848:Mapkapk5
|
UTSW |
5 |
121,683,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7973:Mapkapk5
|
UTSW |
5 |
121,663,776 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8736:Mapkapk5
|
UTSW |
5 |
121,665,241 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9561:Mapkapk5
|
UTSW |
5 |
121,672,490 (GRCm39) |
missense |
probably benign |
0.32 |
|
RF016:Mapkapk5
|
UTSW |
5 |
121,671,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mapkapk5
|
UTSW |
5 |
121,669,654 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATAAGATTCCCCAGGGGCTG -3'
(R):5'- AGATGGTCTGGACACTTTGG -3'
Sequencing Primer
(F):5'- TCAGCTTTTACAACACGAGAGAG -3'
(R):5'- GACTTAGCATGGTCAGGTTT -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation