Incidental Mutation 'R5229:Mapkapk5'
| ID |
403655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkapk5
|
| Ensembl Gene |
ENSMUSG00000029454 |
| Gene Name |
MAP kinase-activated protein kinase 5 |
| Synonyms |
MK5, PRAK |
| MMRRC Submission |
042802-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121663114-121683955 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 121671454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000031410
|
| SMART Domains |
Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
| 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 null
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 null
Transcript: ENSMUST00000111783
|
| SMART Domains |
Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
| 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 null
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 |
noncoding transcript
Transcript: ENSMUST00000122152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125946
|
| SMART Domains |
Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
5.3e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151352
|
| 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 null
Transcript: ENSMUST00000196315
|
| SMART Domains |
Protein: ENSMUSP00000142346
Gene: ENSMUSG00000029454
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
22 |
179 |
4.1e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200170
|
| SMART Domains |
Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154628
|
| Meta Mutation Damage Score |
0.9584 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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 |
|---|
| 4930444P10Rik |
T |
C |
1: 16,151,183 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
G |
16: 4,667,915 (GRCm39) |
I435M |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,089,440 (GRCm39) |
I546V |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,027,806 (GRCm39) |
T10A |
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,803,409 (GRCm39) |
D2254Y |
possibly damaging |
Het |
| Bub1b |
C |
A |
2: 118,460,470 (GRCm39) |
D600E |
probably damaging |
Het |
| Cnga1 |
A |
G |
5: 72,766,843 (GRCm39) |
S199P |
probably damaging |
Het |
| Cyp3a11 |
G |
T |
5: 145,791,945 (GRCm39) |
L483I |
probably benign |
Het |
| Depp1 |
T |
C |
6: 116,628,992 (GRCm39) |
S112P |
possibly damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,466,016 (GRCm39) |
G457V |
probably damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
| Epb41 |
C |
A |
4: 131,706,246 (GRCm39) |
G415C |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,808,494 (GRCm39) |
V69M |
possibly damaging |
Het |
| F2 |
A |
T |
2: 91,460,586 (GRCm39) |
Y301* |
probably null |
Het |
| F2rl2 |
A |
T |
13: 95,837,195 (GRCm39) |
N80I |
possibly damaging |
Het |
| Fam237b |
A |
T |
5: 5,625,565 (GRCm39) |
Y87F |
possibly damaging |
Het |
| Gm15446 |
T |
G |
5: 110,091,036 (GRCm39) |
H429Q |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,031,290 (GRCm39) |
G148D |
probably damaging |
Het |
| Gpr26 |
A |
T |
7: 131,585,976 (GRCm39) |
R315S |
probably damaging |
Het |
| Hdac9 |
A |
C |
12: 34,487,163 (GRCm39) |
H100Q |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,994,761 (GRCm39) |
V457D |
probably benign |
Het |
| Igkv10-96 |
A |
G |
6: 68,609,223 (GRCm39) |
M24T |
possibly damaging |
Het |
| Igkv2-95-2 |
A |
G |
6: 68,625,095 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm4a |
G |
A |
4: 118,003,802 (GRCm39) |
S758F |
probably damaging |
Het |
| Lrg1 |
A |
G |
17: 56,427,154 (GRCm39) |
W273R |
probably damaging |
Het |
| Man2a1 |
A |
T |
17: 65,017,729 (GRCm39) |
Q658H |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,261,321 (GRCm39) |
D761G |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,175,310 (GRCm39) |
Y286F |
probably damaging |
Het |
| Nbn |
C |
T |
4: 15,963,893 (GRCm39) |
T98I |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,906,305 (GRCm39) |
S685P |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,143,238 (GRCm39) |
V80A |
probably benign |
Het |
| Or10al5 |
A |
G |
17: 38,063,192 (GRCm39) |
H149R |
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,507,401 (GRCm39) |
M390K |
probably damaging |
Het |
| Pon1 |
C |
T |
6: 5,177,295 (GRCm39) |
V205I |
possibly damaging |
Het |
| Ppp4r2 |
C |
A |
6: 100,842,176 (GRCm39) |
H212Q |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,548,372 (GRCm39) |
D11G |
possibly damaging |
Het |
| Prl2c5 |
G |
A |
13: 13,360,441 (GRCm39) |
C33Y |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,159,917 (GRCm39) |
F379L |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,444,340 (GRCm39) |
D344N |
probably damaging |
Het |
| Rgs3 |
T |
C |
4: 62,620,424 (GRCm39) |
L550P |
probably damaging |
Het |
| Rnasek |
A |
T |
11: 70,130,486 (GRCm39) |
M25K |
probably damaging |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,520 (GRCm39) |
T60S |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,365,042 (GRCm39) |
F392S |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,827,871 (GRCm39) |
V209E |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,080 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
A |
G |
19: 40,329,151 (GRCm39) |
I554T |
probably damaging |
Het |
| Spats1 |
A |
G |
17: 45,777,059 (GRCm39) |
|
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,859,919 (GRCm39) |
Q202R |
probably damaging |
Het |
| Trav6-5 |
T |
G |
14: 53,729,045 (GRCm39) |
S102A |
probably damaging |
Het |
| Tspan2 |
T |
C |
3: 102,676,215 (GRCm39) |
M208T |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,471,635 (GRCm39) |
S84P |
probably damaging |
Het |
| Vmn1r237 |
C |
A |
17: 21,534,633 (GRCm39) |
Q119K |
probably benign |
Het |
| Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
| Zfp65 |
A |
T |
13: 67,856,929 (GRCm39) |
S117T |
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 |
|
R5422:Mapkapk5
|
UTSW |
5 |
121,669,785 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5963:Mapkapk5
|
UTSW |
5 |
121,676,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCCAACCATGTCACTTCAGTG -3'
(R):5'- TTGAGCTTAAAGGTGTGAGCC -3'
Sequencing Primer
(F):5'- CCTGTCTCATCAGATTAGAGACTGG -3'
(R):5'- CTTAAAGGTGTGAGCCAGCATAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation