Incidental Mutation 'IGL00774:Map3k2'
| ID |
277922 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
32296142-32369804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32361292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 584
(P584L)
|
| 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: P584L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383
AA Change: P584L
| 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 |
|
| 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 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
| Aldob |
A |
G |
4: 49,536,843 (GRCm39) |
S349P |
probably benign |
Het |
| Cd2 |
A |
T |
3: 101,190,345 (GRCm39) |
|
probably null |
Het |
| Cmtm2a |
A |
G |
8: 105,019,562 (GRCm39) |
S43P |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
A |
T |
4: 115,389,735 (GRCm39) |
I447F |
probably damaging |
Het |
| E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
| Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
G |
T |
5: 72,265,789 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
| Mindy2 |
T |
C |
9: 70,538,315 (GRCm39) |
D340G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,405 (GRCm39) |
I305V |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
| Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
| Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
| Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
| Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
| Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
| Zbtb40 |
T |
G |
4: 136,721,835 (GRCm39) |
H848P |
probably 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 |
|
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 |
|
R3795:Map3k2
|
UTSW |
18 |
32,359,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation