Incidental Mutation 'R4445:Mapkapk5'
| ID |
329830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkapk5
|
| Ensembl Gene |
ENSMUSG00000029454 |
| Gene Name |
MAP kinase-activated protein kinase 5 |
| Synonyms |
MK5, PRAK |
| MMRRC Submission |
041151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4445 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121663114-121683955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121663291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 445
(T445A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031410]
[ENSMUST00000100757]
[ENSMUST00000111782]
[ENSMUST00000111783]
[ENSMUST00000111786]
[ENSMUST00000111795]
[ENSMUST00000125946]
[ENSMUST00000200170]
|
| AlphaFold |
O54992 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031410
AA Change: T447A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
AA Change: T447A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
409 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100757
|
| SMART Domains |
Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
70 |
191 |
1.5e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
233 |
410 |
2.8e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
234 |
421 |
6.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
235 |
429 |
1.3e-70 |
PFAM |
|
Pfam:Reprolysin_3
|
255 |
381 |
3.8e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
255 |
419 |
5.6e-9 |
PFAM |
|
DISIN
|
447 |
520 |
6.45e-37 |
SMART |
|
ACR
|
521 |
660 |
4.59e-62 |
SMART |
|
EGF
|
666 |
697 |
1.99e1 |
SMART |
|
transmembrane domain
|
741 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
791 |
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
AA Change: T296A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107412
Gene: ENSMUSG00000029454
AA Change: T296A
| 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 benign
Transcript: ENSMUST00000111783
AA Change: T445A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
AA Change: T445A
| 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
AA Change: T298A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107416
Gene: ENSMUSG00000029454
AA Change: T298A
| 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 benign
Transcript: ENSMUST00000111795
|
| SMART Domains |
Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125946
AA Change: T445A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
AA Change: T445A
| 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: ENSMUST00000128782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200170
AA Change: T445A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
AA Change: T445A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
22 |
304 |
8.22e-84 |
SMART |
|
coiled coil region
|
407 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152270
AA Change: T87A
|
| SMART Domains |
Protein: ENSMUSP00000116464
Gene: ENSMUSG00000029454
AA Change: T87A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
49 |
74 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000154628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126524
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,489 (GRCm39) |
L962P |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
| Calcoco1 |
A |
G |
15: 102,624,175 (GRCm39) |
|
probably null |
Het |
| Cd59a |
A |
G |
2: 103,941,163 (GRCm39) |
Q47R |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
| Cfap45 |
G |
A |
1: 172,362,794 (GRCm39) |
V262M |
probably benign |
Het |
| Chd8 |
A |
T |
14: 52,441,984 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
T |
6: 46,736,785 (GRCm39) |
T737I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,281,672 (GRCm39) |
D2837G |
unknown |
Het |
| Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
| Cyp4a12a |
G |
A |
4: 115,183,980 (GRCm39) |
|
probably null |
Het |
| Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
| Ddx56 |
A |
T |
11: 6,215,770 (GRCm39) |
|
probably null |
Het |
| Dync2i1 |
G |
A |
12: 116,171,335 (GRCm39) |
A967V |
probably damaging |
Het |
| Elmod1 |
T |
A |
9: 53,841,413 (GRCm39) |
D93V |
probably damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,319,701 (GRCm39) |
L178P |
possibly damaging |
Het |
| Flacc1 |
A |
T |
1: 58,706,080 (GRCm39) |
I263K |
possibly damaging |
Het |
| Galnt10 |
T |
A |
11: 57,674,517 (GRCm39) |
V502D |
probably damaging |
Het |
| Gm11735 |
T |
C |
11: 116,629,888 (GRCm39) |
|
noncoding transcript |
Het |
| H4c12 |
T |
C |
13: 21,934,513 (GRCm39) |
T55A |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
| Ip6k3 |
A |
G |
17: 27,364,076 (GRCm39) |
I324T |
probably benign |
Het |
| Klkb1 |
C |
T |
8: 45,730,092 (GRCm39) |
S263N |
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,582,180 (GRCm39) |
C602* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,884,149 (GRCm39) |
S2986P |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,715,611 (GRCm39) |
D63G |
probably damaging |
Het |
| Nscme3l |
A |
T |
19: 5,553,022 (GRCm39) |
V253D |
probably damaging |
Het |
| Nsun2 |
G |
A |
13: 69,777,840 (GRCm39) |
|
probably null |
Het |
| Or13a24 |
C |
A |
7: 140,154,302 (GRCm39) |
P79T |
probably damaging |
Het |
| Or1ak2 |
T |
G |
2: 36,827,563 (GRCm39) |
L144R |
probably damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,005 (GRCm39) |
L101P |
possibly damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,907,253 (GRCm39) |
F173L |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,499,035 (GRCm39) |
I531V |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,442,135 (GRCm39) |
M1394V |
probably benign |
Het |
| Setd1b |
G |
T |
5: 123,286,167 (GRCm39) |
E404D |
unknown |
Het |
| Slc25a54 |
G |
A |
3: 109,005,984 (GRCm39) |
R164H |
probably benign |
Het |
| Slc2a13 |
A |
G |
15: 91,234,223 (GRCm39) |
V371A |
possibly damaging |
Het |
| Spag9 |
C |
G |
11: 93,988,079 (GRCm39) |
L798V |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,172,980 (GRCm39) |
S484T |
possibly damaging |
Het |
| Tcf12 |
C |
T |
9: 71,776,345 (GRCm39) |
R399Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,615,177 (GRCm39) |
V16847A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
| Vmn1r11 |
T |
G |
6: 57,114,515 (GRCm39) |
L23V |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,691,874 (GRCm39) |
C541Y |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,214,874 (GRCm39) |
T286P |
possibly damaging |
Het |
| Vps13c |
T |
G |
9: 67,889,777 (GRCm39) |
|
probably null |
Het |
| Ypel1 |
A |
T |
16: 16,921,464 (GRCm39) |
Y73* |
probably null |
Het |
| Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
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 |
|
|
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 |
|
|
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'- GTAAGCCTCAGCCATCCTAC -3'
(R):5'- CACACGTGTGGGAGTTTTATATGC -3'
Sequencing Primer
(F):5'- GTAAGCCTCAGCCATCCTACATTAG -3'
(R):5'- ATATGCTTGGGTATGAGTCTGTTGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation