Incidental Mutation 'IGL00272:Map2k2'
| ID |
11892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map2k2
|
| Ensembl Gene |
ENSMUSG00000035027 |
| Gene Name |
mitogen-activated protein kinase kinase 2 |
| Synonyms |
MEK2, Prkmk2, MAP kinase/Erk kinase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80941749-80960531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80956907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 95
(M95K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048223]
[ENSMUST00000105331]
[ENSMUST00000136743]
[ENSMUST00000143517]
[ENSMUST00000220329]
|
| AlphaFold |
Q63932 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048223
|
| SMART Domains |
Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027
| 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 |
possibly damaging
Transcript: ENSMUST00000105331
AA Change: M316K
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: M316K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
52 |
N/A |
INTRINSIC |
|
S_TKc
|
72 |
369 |
8.75e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128937
|
| 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 |
possibly damaging
Transcript: ENSMUST00000143517
AA Change: M317K
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: M317K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
52 |
N/A |
INTRINSIC |
|
S_TKc
|
72 |
370 |
1.24e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220329
AA Change: M95K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
|
| 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 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,700,279 (GRCm39) |
V41A |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,293,169 (GRCm39) |
V755I |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,691 (GRCm39) |
S218P |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,442,101 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,211 (GRCm39) |
Y228H |
probably damaging |
Het |
| Dnaaf6 |
A |
G |
X: 139,006,711 (GRCm39) |
I197V |
probably benign |
Het |
| Egf |
C |
T |
3: 129,505,098 (GRCm39) |
M625I |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,206,162 (GRCm39) |
H595Q |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,292,699 (GRCm39) |
I660F |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,139,470 (GRCm39) |
V267M |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,668,460 (GRCm39) |
|
probably benign |
Het |
| Gja1 |
A |
G |
10: 56,264,418 (GRCm39) |
D259G |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,483,502 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26870 |
T |
C |
9: 3,002,340 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,306,264 (GRCm39) |
C482Y |
probably damaging |
Het |
| Knl1 |
A |
C |
2: 118,894,564 (GRCm39) |
N79T |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,026 (GRCm39) |
T950A |
probably benign |
Het |
| Med12l |
T |
A |
3: 58,949,757 (GRCm39) |
I160N |
probably damaging |
Het |
| Or9m1b |
A |
G |
2: 87,836,988 (GRCm39) |
S45P |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,782 (GRCm39) |
D109V |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,803 (GRCm39) |
S362P |
probably damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,170,016 (GRCm39) |
A844S |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,984,623 (GRCm39) |
I308V |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,669 (GRCm39) |
N95S |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,086,961 (GRCm39) |
F284L |
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,409 (GRCm39) |
T91A |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,797,494 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,015,148 (GRCm39) |
|
probably null |
Het |
| Stard10 |
A |
T |
7: 100,971,173 (GRCm39) |
Y47F |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,870,095 (GRCm39) |
V233I |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,426,469 (GRCm39) |
S1165N |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,143,633 (GRCm39) |
I106V |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,227,909 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,237,047 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Map2k2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6905:Map2k2
|
UTSW |
10 |
80,944,701 (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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation