Incidental Mutation 'R5059:Map2k5'
| ID |
386523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2k5
|
| Ensembl Gene |
ENSMUSG00000058444 |
| Gene Name |
mitogen-activated protein kinase kinase 5 |
| Synonyms |
MEK5 |
| MMRRC Submission |
042649-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5059 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
63071050-63285184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63164296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 336
(H336R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034920]
|
| AlphaFold |
Q9WVS7 |
| PDB Structure |
Solution structure of the PB1 domain of mouse mitogen activated protein kinase kinase 5 (MAP2K5) [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034920
AA Change: H336R
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: H336R
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
18 |
97 |
7.59e-12 |
SMART |
|
S_TKc
|
166 |
419 |
7.75e-71 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213604
|
| Meta Mutation Damage Score |
0.1200 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (52/53) |
| 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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutants die at E10.5 and exhibit abnormal cardiac development and a decrease in proliferation and an increase in apoptosis in the heart, head, and dorsal regions of the embryo. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,637 (GRCm39) |
N455I |
probably damaging |
Het |
| Alg12 |
A |
G |
15: 88,695,659 (GRCm39) |
F279S |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,776,360 (GRCm39) |
D296G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,586,204 (GRCm39) |
S437T |
probably damaging |
Het |
| Apol7a |
G |
A |
15: 77,274,012 (GRCm39) |
|
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,843,175 (GRCm39) |
Y465F |
probably damaging |
Het |
| Atp8a2 |
T |
G |
14: 59,928,986 (GRCm39) |
T1023P |
probably benign |
Het |
| Cdh20 |
C |
A |
1: 109,993,430 (GRCm39) |
A295E |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,181 (GRCm39) |
E92G |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,356,224 (GRCm39) |
S752P |
probably benign |
Het |
| Dlx2 |
T |
C |
2: 71,376,585 (GRCm39) |
H51R |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,415,874 (GRCm39) |
I736T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,202,427 (GRCm39) |
T252A |
possibly damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,658 (GRCm39) |
R151G |
possibly damaging |
Het |
| Gapdhs |
C |
T |
7: 30,431,410 (GRCm39) |
A357T |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,319 (GRCm39) |
M1671K |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,907,113 (GRCm39) |
Y327C |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,214,503 (GRCm39) |
R542G |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,854,361 (GRCm39) |
K308E |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,675 (GRCm39) |
F178S |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,232,401 (GRCm39) |
D1640G |
probably damaging |
Het |
| Il18r1 |
G |
A |
1: 40,520,227 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,910,250 (GRCm39) |
S23P |
possibly damaging |
Het |
| Lactb |
T |
C |
9: 66,882,426 (GRCm39) |
E83G |
probably benign |
Het |
| Larp4 |
A |
T |
15: 99,903,171 (GRCm39) |
D414V |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,887,071 (GRCm39) |
E1006G |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,146,467 (GRCm39) |
S226P |
probably damaging |
Het |
| Micall1 |
A |
T |
15: 79,007,034 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
A |
18: 4,375,827 (GRCm39) |
|
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,488 (GRCm39) |
K81* |
probably null |
Het |
| Or5p58 |
A |
G |
7: 107,694,522 (GRCm39) |
L85P |
probably damaging |
Het |
| Pnrc1 |
G |
A |
4: 33,246,072 (GRCm39) |
Q296* |
probably null |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
G |
4: 143,691,565 (GRCm39) |
V386A |
probably damaging |
Het |
| Prkcsh |
T |
A |
9: 21,924,046 (GRCm39) |
L439Q |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,655,882 (GRCm39) |
L3970P |
probably damaging |
Het |
| Ptcd1 |
G |
A |
5: 145,089,034 (GRCm39) |
P542L |
probably benign |
Het |
| Rps6ka5 |
G |
A |
12: 100,520,634 (GRCm39) |
T631I |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,570,619 (GRCm39) |
N271S |
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,177,709 (GRCm39) |
M541T |
probably benign |
Het |
| Tek |
T |
A |
4: 94,692,551 (GRCm39) |
C169S |
probably benign |
Het |
| Tgfbr3l |
T |
A |
8: 4,299,343 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,186,149 (GRCm39) |
N647D |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,836,293 (GRCm39) |
K638R |
probably null |
Het |
| Vmn1r191 |
G |
A |
13: 22,363,163 (GRCm39) |
A197V |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,044 (GRCm39) |
T894A |
possibly damaging |
Het |
| Vstm4 |
T |
G |
14: 32,585,687 (GRCm39) |
Y85D |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,482 (GRCm39) |
I160T |
probably benign |
Het |
| Zc3h7a |
TAGAGAG |
TAGAGAGAG |
16: 10,978,985 (GRCm39) |
|
probably null |
Het |
| Zfp988 |
A |
T |
4: 147,416,372 (GRCm39) |
K269* |
probably null |
Het |
|
| Other mutations in Map2k5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Map2k5
|
APN |
9 |
63,188,359 (GRCm39) |
splice site |
probably benign |
|
|
IGL01412:Map2k5
|
APN |
9 |
63,200,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01766:Map2k5
|
APN |
9 |
63,284,509 (GRCm39) |
missense |
probably benign |
|
|
IGL02246:Map2k5
|
APN |
9 |
63,284,411 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02270:Map2k5
|
APN |
9 |
63,229,479 (GRCm39) |
splice site |
probably null |
|
|
IGL02793:Map2k5
|
APN |
9 |
63,164,321 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03236:Map2k5
|
APN |
9 |
63,193,674 (GRCm39) |
splice site |
probably benign |
|
|
R0007:Map2k5
|
UTSW |
9 |
63,201,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Map2k5
|
UTSW |
9 |
63,164,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0315:Map2k5
|
UTSW |
9 |
63,210,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0801:Map2k5
|
UTSW |
9 |
63,265,261 (GRCm39) |
splice site |
probably benign |
|
|
R1122:Map2k5
|
UTSW |
9 |
63,170,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Map2k5
|
UTSW |
9 |
63,142,585 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4308:Map2k5
|
UTSW |
9 |
63,142,586 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4421:Map2k5
|
UTSW |
9 |
63,071,412 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4720:Map2k5
|
UTSW |
9 |
63,201,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Map2k5
|
UTSW |
9 |
63,229,525 (GRCm39) |
nonsense |
probably null |
|
|
R5138:Map2k5
|
UTSW |
9 |
63,170,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6005:Map2k5
|
UTSW |
9 |
63,188,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Map2k5
|
UTSW |
9 |
63,124,647 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6261:Map2k5
|
UTSW |
9 |
63,245,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6498:Map2k5
|
UTSW |
9 |
63,193,683 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6808:Map2k5
|
UTSW |
9 |
63,229,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7228:Map2k5
|
UTSW |
9 |
63,265,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Map2k5
|
UTSW |
9 |
63,265,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8017:Map2k5
|
UTSW |
9 |
63,246,403 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8053:Map2k5
|
UTSW |
9 |
63,250,707 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8247:Map2k5
|
UTSW |
9 |
63,279,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Map2k5
|
UTSW |
9 |
63,246,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8341:Map2k5
|
UTSW |
9 |
63,246,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Map2k5
|
UTSW |
9 |
63,250,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9149:Map2k5
|
UTSW |
9 |
63,201,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Map2k5
|
UTSW |
9 |
63,265,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGCTGAGTCAGACGAC -3'
(R):5'- TCTATGACTGTGTGCAGGATTCTC -3'
Sequencing Primer
(F):5'- TCTGCTGAGTCAGACGACATACATG -3'
(R):5'- TGCAGGATTCTCTGTTGCTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation