Incidental Mutation 'R6905:Map2k2'
| ID |
538743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2k2
|
| Ensembl Gene |
ENSMUSG00000035027 |
| Gene Name |
mitogen-activated protein kinase kinase 2 |
| Synonyms |
MEK2, Prkmk2, MAP kinase/Erk kinase |
| MMRRC Submission |
044997-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80941749-80960531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80944701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 71
(D71G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048223]
[ENSMUST00000105331]
[ENSMUST00000136743]
[ENSMUST00000143517]
|
| AlphaFold |
Q63932 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048223
AA Change: D71G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
52 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
72 |
191 |
1.2e-10 |
PFAM |
|
Pfam:Pkinase
|
72 |
196 |
5e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105331
AA Change: D71G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
52 |
N/A |
INTRINSIC |
|
S_TKc
|
72 |
369 |
8.75e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136743
|
| SMART Domains |
Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
85 |
5.8e-14 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
85 |
6.6e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143517
AA Change: D71G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
52 |
N/A |
INTRINSIC |
|
S_TKc
|
72 |
370 |
1.24e-78 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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 known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are viable, fertile, and apparently normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
G |
T |
1: 151,856,189 (GRCm39) |
N59K |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,394,880 (GRCm39) |
D196G |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,831,653 (GRCm39) |
F50S |
probably damaging |
Het |
| Arid4a |
C |
T |
12: 71,108,318 (GRCm39) |
A41V |
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,726,065 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
C |
A |
2: 112,309,901 (GRCm39) |
C405F |
probably benign |
Het |
| Cimip2a |
A |
G |
2: 25,110,491 (GRCm39) |
I100V |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,937,517 (GRCm39) |
|
probably null |
Het |
| Copb1 |
A |
C |
7: 113,853,125 (GRCm39) |
I24S |
probably benign |
Het |
| Ctsh |
A |
T |
9: 89,944,819 (GRCm39) |
K83N |
probably damaging |
Het |
| Dgkd |
A |
G |
1: 87,863,097 (GRCm39) |
E48G |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,972,561 (GRCm39) |
T657A |
probably benign |
Het |
| Flrt1 |
T |
A |
19: 7,072,757 (GRCm39) |
K597* |
probably null |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,990 (GRCm39) |
S209G |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,465,089 (GRCm39) |
M1T |
probably null |
Het |
| Ighv8-12 |
T |
C |
12: 115,611,705 (GRCm39) |
Y73C |
probably benign |
Het |
| Klhl21 |
C |
A |
4: 152,094,184 (GRCm39) |
A262E |
probably benign |
Het |
| L3mbtl4 |
A |
T |
17: 69,084,883 (GRCm39) |
Y598F |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,618 (GRCm39) |
K298R |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,037,357 (GRCm39) |
H752Q |
probably benign |
Het |
| Mms22l |
A |
T |
4: 24,503,107 (GRCm39) |
M200L |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,751,340 (GRCm39) |
D103Y |
possibly damaging |
Het |
| Nes |
C |
T |
3: 87,885,985 (GRCm39) |
P1371S |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,712,052 (GRCm39) |
D294V |
probably benign |
Het |
| Or4f14c |
A |
T |
2: 111,940,703 (GRCm39) |
M298K |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,574 (GRCm39) |
T238S |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,328,862 (GRCm39) |
I114V |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,667,239 (GRCm39) |
Y119H |
probably benign |
Het |
| Pcdhb15 |
C |
T |
18: 37,607,748 (GRCm39) |
L327F |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,330,336 (GRCm39) |
V78A |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,853,264 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,693,323 (GRCm39) |
V468M |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,211,973 (GRCm39) |
I428V |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,785 (GRCm39) |
V147A |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,495,340 (GRCm39) |
I9N |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,387 (GRCm39) |
F625I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,789,230 (GRCm39) |
D196G |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,033,752 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,725,757 (GRCm39) |
|
probably null |
Het |
| Stap1 |
G |
A |
5: 86,238,781 (GRCm39) |
E150K |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,598 (GRCm39) |
I284T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,202,330 (GRCm39) |
|
probably benign |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Trav7d-4 |
G |
T |
14: 53,007,770 (GRCm39) |
A88S |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,205,926 (GRCm39) |
E207G |
probably damaging |
Het |
|
| Other mutations in Map2k2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Map2k2
|
APN |
10 |
80,956,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00825:Map2k2
|
APN |
10 |
80,954,052 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00826:Map2k2
|
APN |
10 |
80,954,052 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0972:Map2k2
|
UTSW |
10 |
80,955,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1772:Map2k2
|
UTSW |
10 |
80,956,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Map2k2
|
UTSW |
10 |
80,955,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2203:Map2k2
|
UTSW |
10 |
80,955,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4010:Map2k2
|
UTSW |
10 |
80,944,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Map2k2
|
UTSW |
10 |
80,950,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Map2k2
|
UTSW |
10 |
80,942,017 (GRCm39) |
missense |
probably benign |
|
|
R7741:Map2k2
|
UTSW |
10 |
80,956,877 (GRCm39) |
missense |
probably benign |
|
|
R7832:Map2k2
|
UTSW |
10 |
80,954,040 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7960:Map2k2
|
UTSW |
10 |
80,954,968 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8052:Map2k2
|
UTSW |
10 |
80,950,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8172:Map2k2
|
UTSW |
10 |
80,959,442 (GRCm39) |
splice site |
probably null |
|
|
R8544:Map2k2
|
UTSW |
10 |
80,955,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8851:Map2k2
|
UTSW |
10 |
80,955,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Map2k2
|
UTSW |
10 |
80,955,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9047:Map2k2
|
UTSW |
10 |
80,955,498 (GRCm39) |
missense |
probably benign |
|
|
R9224:Map2k2
|
UTSW |
10 |
80,954,008 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9226:Map2k2
|
UTSW |
10 |
80,955,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF004:Map2k2
|
UTSW |
10 |
80,951,002 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGATGGGGATCCTGGAG -3'
(R):5'- TCACCAGTATGCCACATTCC -3'
Sequencing Primer
(F):5'- GATCCTGGAGCGCAGGC -3'
(R):5'- TTCCAAATGGACCAGGGCTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation