Incidental Mutation 'R1415:Map3k2'
| ID |
159790 |
| 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 |
| MMRRC Submission |
039471-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32296142-32369804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32361330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 597
(I597V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096575]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096575
AA Change: I597V
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383
AA Change: I597V
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,606,321 (GRCm39) |
W480* |
probably null |
Het |
| Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,689,371 (GRCm39) |
V264A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Gigyf1 |
A |
G |
5: 137,517,478 (GRCm39) |
|
probably null |
Het |
| Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
| Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
| Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
| Snx30 |
C |
T |
4: 59,879,261 (GRCm39) |
R167C |
probably damaging |
Het |
| Tmem26 |
T |
C |
10: 68,614,491 (GRCm39) |
F302S |
possibly damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,301,610 (GRCm39) |
L19S |
probably damaging |
Het |
| Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
| Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
| Zbed6 |
C |
T |
1: 133,585,556 (GRCm39) |
V594M |
possibly damaging |
Het |
| Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
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 |
|
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 |
|
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'- GTGGACTTCATGCCAGCTTCTCATT -3'
(R):5'- GGCTCAACCCCACAGATAAGGTTCT -3'
Sequencing Primer
(F):5'- GGCTAACCAGATTTCTTTCCTGAAG -3'
(R):5'- TCCATGTCAGTGATACAGGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation