Incidental Mutation 'IGL03097:Map3k2'
ID |
453241 |
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 # |
IGL03097 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
32296142-32369804 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 32333070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 81
(D81E)
|
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: D81E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000094326 Gene: ENSMUSG00000024383 AA Change: D81E
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 |
0.4118 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
90% (46/51) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Adcy9 |
T |
C |
16: 4,235,930 (GRCm39) |
T257A |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
Ak5 |
A |
G |
3: 152,366,151 (GRCm39) |
|
probably null |
Het |
Akap3 |
A |
G |
6: 126,843,379 (GRCm39) |
K666R |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,657 (GRCm39) |
N1158S |
probably benign |
Het |
Atp23 |
A |
T |
10: 126,723,556 (GRCm39) |
V182E |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,422,462 (GRCm39) |
D898G |
probably benign |
Het |
Bnip3 |
T |
C |
7: 138,496,208 (GRCm39) |
N140S |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,968,506 (GRCm39) |
Y1059C |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,610,118 (GRCm39) |
I796N |
probably damaging |
Het |
Ccnb2 |
A |
G |
9: 70,316,678 (GRCm39) |
|
probably benign |
Het |
Cd3g |
T |
A |
9: 44,882,061 (GRCm39) |
D165V |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,498,676 (GRCm39) |
T4A |
probably benign |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Cntn4 |
C |
T |
6: 106,330,673 (GRCm39) |
T97M |
probably benign |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Crim1 |
C |
T |
17: 78,675,227 (GRCm39) |
T812I |
probably benign |
Het |
Csmd1 |
G |
T |
8: 15,995,127 (GRCm39) |
T2636K |
probably damaging |
Het |
Cyp39a1 |
T |
A |
17: 43,993,941 (GRCm39) |
Y200* |
probably null |
Het |
Dlg4 |
T |
G |
11: 69,933,028 (GRCm39) |
I478S |
probably damaging |
Het |
Dsc3 |
A |
T |
18: 20,107,105 (GRCm39) |
N505K |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,043,049 (GRCm39) |
W323R |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,581,520 (GRCm39) |
I491L |
probably benign |
Het |
Ggt6 |
T |
G |
11: 72,327,639 (GRCm39) |
H148Q |
possibly damaging |
Het |
Gstm3 |
T |
C |
3: 107,876,117 (GRCm39) |
D25G |
probably benign |
Het |
Gtf2h3 |
G |
A |
5: 124,740,231 (GRCm39) |
|
probably benign |
Het |
Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
A |
C |
3: 3,716,674 (GRCm39) |
E281A |
probably damaging |
Het |
Impg1 |
T |
G |
9: 80,287,234 (GRCm39) |
E404A |
possibly damaging |
Het |
Kcna2 |
T |
C |
3: 107,012,715 (GRCm39) |
V432A |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
Ms4a1 |
G |
T |
19: 11,230,556 (GRCm39) |
T215N |
probably benign |
Het |
Pam16 |
T |
C |
16: 4,434,458 (GRCm39) |
I111V |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,166,719 (GRCm39) |
T720A |
probably damaging |
Het |
Pgap2 |
T |
C |
7: 101,885,434 (GRCm39) |
L100P |
probably damaging |
Het |
Ppl |
T |
A |
16: 4,914,590 (GRCm39) |
S686C |
probably damaging |
Het |
Rnls |
A |
G |
19: 33,115,679 (GRCm39) |
|
probably benign |
Het |
Robo3 |
A |
C |
9: 37,333,824 (GRCm39) |
|
probably null |
Het |
Rptn |
G |
A |
3: 93,304,680 (GRCm39) |
G671D |
probably damaging |
Het |
Slc6a21 |
C |
T |
7: 44,937,592 (GRCm39) |
Q628* |
probably null |
Het |
Smg6 |
T |
G |
11: 74,823,252 (GRCm39) |
I708S |
probably damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTCTATTACACACATGCACAG -3'
(R):5'- TCTTAGCTATGTGCACAGTAGC -3'
Sequencing Primer
(F):5'- GATTTAAACACTCTCCTAAGTAGCAC -3'
(R):5'- GTAGCACCCCACTTAACAGTAAAATC -3'
|
Posted On |
2017-01-31 |