Incidental Mutation 'R5163:Map2k3'
| ID |
397110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2k3
|
| Ensembl Gene |
ENSMUSG00000018932 |
| Gene Name |
mitogen-activated protein kinase kinase 3 |
| Synonyms |
MAP kinase kinase 3, MKK3, Prkmk3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5163 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60822880-60843637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60834317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 95
(I95N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019076]
[ENSMUST00000130269]
|
| AlphaFold |
O09110 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019076
AA Change: I95N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019076
Gene: ENSMUSG00000018932
AA Change: I95N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
S_TKc
|
64 |
325 |
1.41e-73 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126043
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130269
AA Change: I95N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114430
Gene: ENSMUSG00000018932
AA Change: I95N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
64 |
173 |
1.3e-12 |
PFAM |
|
Pfam:Pkinase_Tyr
|
64 |
173 |
3.5e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145828
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
| Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
| Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
| Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
| Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
| Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
| Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
| Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
| Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
| Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
probably damaging |
Het |
|
| Other mutations in Map2k3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Map2k3
|
APN |
11 |
60,834,041 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL00901:Map2k3
|
APN |
11 |
60,832,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01620:Map2k3
|
APN |
11 |
60,840,873 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02197:Map2k3
|
APN |
11 |
60,837,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Map2k3
|
UTSW |
11 |
60,823,055 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2069:Map2k3
|
UTSW |
11 |
60,840,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Map2k3
|
UTSW |
11 |
60,837,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Map2k3
|
UTSW |
11 |
60,832,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6043:Map2k3
|
UTSW |
11 |
60,837,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6147:Map2k3
|
UTSW |
11 |
60,840,776 (GRCm39) |
nonsense |
probably null |
|
|
R6659:Map2k3
|
UTSW |
11 |
60,833,150 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7206:Map2k3
|
UTSW |
11 |
60,834,406 (GRCm39) |
missense |
|
|
|
R7261:Map2k3
|
UTSW |
11 |
60,836,393 (GRCm39) |
splice site |
probably null |
|
|
R7389:Map2k3
|
UTSW |
11 |
60,822,862 (GRCm39) |
unclassified |
probably benign |
|
|
R8998:Map2k3
|
UTSW |
11 |
60,840,817 (GRCm39) |
missense |
|
|
|
R8999:Map2k3
|
UTSW |
11 |
60,840,817 (GRCm39) |
missense |
|
|
|
R9355:Map2k3
|
UTSW |
11 |
60,823,055 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9729:Map2k3
|
UTSW |
11 |
60,837,472 (GRCm39) |
missense |
|
|
|
R9746:Map2k3
|
UTSW |
11 |
60,822,929 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACCCTACCTGGAGTAGCAC -3'
(R):5'- CGGGAACTCCACACAATAGG -3'
Sequencing Primer
(F):5'- CTACCTGGAGTAGCACTGGAG -3'
(R):5'- TCCACACAATAGGACTGAAATGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation