Incidental Mutation 'R3795:Map3k2'
| ID |
272745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k2
|
| Ensembl Gene |
ENSMUSG00000024383 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 2 |
| Synonyms |
9630061B06Rik, MEK kinase 2, Mekk2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3795 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
32296142-32369804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32359701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 518
(M518T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096575]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096575
AA Change: M518T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383
AA Change: M518T
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
43 |
122 |
6.96e-20 |
SMART |
|
low complexity region
|
203 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
S_TKc
|
356 |
616 |
2.86e-92 |
SMART |
|
| Meta Mutation Damage Score |
0.1339 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| 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 member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly normal and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
| Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
| Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
A |
6: 142,713,594 (GRCm39) |
D206E |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,645,962 (GRCm39) |
D116G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
| Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
| S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
| Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
| Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
T |
C |
2: 173,053,972 (GRCm39) |
H183R |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
| Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
possibly damaging |
Het |
|
| Other mutations in Map3k2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Map3k2
|
APN |
18 |
32,361,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00774:Map3k2
|
APN |
18 |
32,361,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01993:Map3k2
|
APN |
18 |
32,359,684 (GRCm39) |
nonsense |
probably null |
|
|
IGL02043:Map3k2
|
APN |
18 |
32,340,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Map3k2
|
APN |
18 |
32,351,553 (GRCm39) |
splice site |
probably benign |
|
|
IGL02441:Map3k2
|
APN |
18 |
32,333,099 (GRCm39) |
splice site |
probably benign |
|
|
IGL03350:Map3k2
|
APN |
18 |
32,345,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03097:Map3k2
|
UTSW |
18 |
32,333,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4434001:Map3k2
|
UTSW |
18 |
32,343,088 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0086:Map3k2
|
UTSW |
18 |
32,351,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Map3k2
|
UTSW |
18 |
32,345,226 (GRCm39) |
splice site |
probably null |
|
|
R0445:Map3k2
|
UTSW |
18 |
32,350,263 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1158:Map3k2
|
UTSW |
18 |
32,350,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1415:Map3k2
|
UTSW |
18 |
32,361,330 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1667:Map3k2
|
UTSW |
18 |
32,336,845 (GRCm39) |
splice site |
probably benign |
|
|
R1926:Map3k2
|
UTSW |
18 |
32,336,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4607:Map3k2
|
UTSW |
18 |
32,333,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Map3k2
|
UTSW |
18 |
32,361,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5332:Map3k2
|
UTSW |
18 |
32,340,509 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5492:Map3k2
|
UTSW |
18 |
32,361,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Map3k2
|
UTSW |
18 |
32,336,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Map3k2
|
UTSW |
18 |
32,336,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Map3k2
|
UTSW |
18 |
32,345,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Map3k2
|
UTSW |
18 |
32,359,682 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6928:Map3k2
|
UTSW |
18 |
32,340,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7475:Map3k2
|
UTSW |
18 |
32,333,015 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7696:Map3k2
|
UTSW |
18 |
32,353,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774:Map3k2
|
UTSW |
18 |
32,345,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Map3k2
|
UTSW |
18 |
32,345,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Map3k2
|
UTSW |
18 |
32,353,625 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9282:Map3k2
|
UTSW |
18 |
32,342,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9800:Map3k2
|
UTSW |
18 |
32,333,069 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAGCAGCCTAATTTGGAGAC -3'
(R):5'- CTTGACAAGGTATAACTGAAATGGC -3'
Sequencing Primer
(F):5'- TTGGAGACAGATTAGCATCTACAAAG -3'
(R):5'- TCCAGGTGACTCTGATGT -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation