Incidental Mutation 'RF004:Map2k2'
| ID |
602704 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF004 (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 T
at 80951002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 149
(H149L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048223]
[ENSMUST00000105331]
[ENSMUST00000136743]
[ENSMUST00000143517]
[ENSMUST00000220329]
|
| AlphaFold |
Q63932 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048223
AA Change: H149L
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027
AA Change: H149L
| 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 benign
Transcript: ENSMUST00000105331
AA Change: H149L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: H149L
| 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
AA Change: H52L
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027
AA Change: H52L
| 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 benign
Transcript: ENSMUST00000143517
AA Change: H149L
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: H149L
| 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 benign
Transcript: ENSMUST00000220329
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
100% (34/34) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,575,645 (GRCm39) |
H126L |
probably benign |
Het |
| 4930407I10Rik |
A |
T |
15: 81,943,550 (GRCm39) |
Q54L |
possibly damaging |
Het |
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
A |
T |
10: 75,168,988 (GRCm39) |
T151S |
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGTCGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,612,411 (GRCm39) |
K1248E |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arl11 |
T |
C |
14: 61,548,304 (GRCm39) |
V38A |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,561 (GRCm39) |
N726Y |
probably damaging |
Het |
| Bcat1 |
T |
C |
6: 144,953,349 (GRCm39) |
K413R |
probably benign |
Het |
| Cd244a |
C |
G |
1: 171,405,490 (GRCm39) |
Q292E |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,411,195 (GRCm39) |
D123E |
probably damaging |
Het |
| Cpeb4 |
ACTCT |
ACTCTCT |
11: 31,877,634 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,535,789 (GRCm39) |
T173A |
possibly damaging |
Het |
| Dlg2 |
T |
A |
7: 90,501,885 (GRCm39) |
C66S |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,328,013 (GRCm39) |
Q3370L |
probably benign |
Het |
| Dnmt1 |
GCACAGTTCCTACCTCGTT |
GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT |
9: 20,821,423 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,436,244 (GRCm39) |
V2420A |
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,118 (GRCm39) |
|
probably benign |
Het |
| Igkv6-25 |
TTGACGGA |
T |
6: 70,192,647 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,370,623 (GRCm39) |
A1582V |
probably benign |
Het |
| Lmnb1 |
T |
C |
18: 56,864,046 (GRCm39) |
I217T |
possibly damaging |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nxph2 |
G |
A |
2: 23,290,080 (GRCm39) |
R144Q |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
T |
TTAG |
7: 102,747,516 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
AT |
ATTCT |
7: 102,747,515 (GRCm39) |
|
probably benign |
Het |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Or52n20 |
A |
G |
7: 104,320,248 (GRCm39) |
E113G |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,114 (GRCm39) |
F235L |
probably benign |
Het |
| Padi4 |
A |
T |
4: 140,487,269 (GRCm39) |
V211E |
probably damaging |
Het |
| Prdm10 |
A |
C |
9: 31,270,422 (GRCm39) |
D902A |
probably damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,398 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,610,081 (GRCm39) |
N1035K |
probably damaging |
Het |
| Rassf6 |
GGTCCTGTAGAGCAATGGGGATTC |
GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,778 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,388,931 (GRCm39) |
V320A |
probably damaging |
Het |
| S1pr1 |
A |
T |
3: 115,506,536 (GRCm39) |
Y19* |
probably null |
Het |
| Slc22a16 |
A |
C |
10: 40,479,642 (GRCm39) |
L571F |
possibly damaging |
Het |
| Smarca2 |
CAGC |
CAGCCCAAGC |
19: 26,608,420 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
A |
T |
3: 146,132,195 (GRCm39) |
K219* |
probably null |
Het |
| Trav15-2-dv6-2 |
AAG |
AAGCAG |
14: 53,887,212 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GAA |
GAATAA |
14: 53,887,211 (GRCm39) |
|
probably null |
Het |
| Tsen15 |
A |
G |
1: 152,259,470 (GRCm39) |
V63A |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Usp54 |
T |
A |
14: 20,611,368 (GRCm39) |
E1149D |
possibly damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,686 (GRCm39) |
S392R |
probably damaging |
Het |
| Wdr97 |
GAGGAGGA |
G |
15: 76,247,373 (GRCm39) |
|
probably null |
Het |
| Zfp663 |
G |
T |
2: 165,200,363 (GRCm39) |
H72Q |
probably benign |
Het |
| Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGACTTCAGGACTGGGGC -3'
(R):5'- TTACCTAGAAAGCGAGGAGTGC -3'
Sequencing Primer
(F):5'- ACTTCAGGACTGGGGCTTAAG -3'
(R):5'- AGTGCAGCTCATCTGAAGCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation