Incidental Mutation 'R7696:Map3k2'
| ID |
593681 |
| 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 # |
R7696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32296142-32369804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32353647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 472
(H472Q)
|
| 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: H472Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383
AA Change: H472Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
C |
T |
15: 11,258,224 (GRCm39) |
R512C |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,902,918 (GRCm39) |
V754L |
probably damaging |
Het |
| Atp5f1a |
T |
A |
18: 77,868,686 (GRCm39) |
I393N |
probably damaging |
Het |
| Bbs1 |
C |
T |
19: 4,941,017 (GRCm39) |
|
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,285,923 (GRCm39) |
L12Q |
unknown |
Het |
| Bsn |
C |
T |
9: 107,991,700 (GRCm39) |
V1351I |
probably damaging |
Het |
| Cbx1 |
T |
C |
11: 96,697,468 (GRCm39) |
V147A |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,953,434 (GRCm39) |
S484T |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,921,106 (GRCm39) |
I298K |
unknown |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,198 (GRCm39) |
I128L |
probably benign |
Het |
| Dhdds |
C |
T |
4: 133,724,225 (GRCm39) |
A30T |
probably damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,242,911 (GRCm39) |
N143S |
probably benign |
Het |
| Eno3 |
T |
G |
11: 70,552,809 (GRCm39) |
N363K |
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,364 (GRCm39) |
D267E |
probably damaging |
Het |
| Galr2 |
C |
T |
11: 116,173,993 (GRCm39) |
R208C |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,788,712 (GRCm39) |
R82C |
unknown |
Het |
| Hspg2 |
T |
A |
4: 137,239,277 (GRCm39) |
F401L |
possibly damaging |
Het |
| Iars1 |
G |
T |
13: 49,860,214 (GRCm39) |
W455L |
probably damaging |
Het |
| Irf1 |
C |
T |
11: 53,667,162 (GRCm39) |
H294Y |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,929,356 (GRCm39) |
L1091P |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,263 (GRCm39) |
D2054A |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,840,158 (GRCm39) |
D2545G |
probably damaging |
Het |
| Nle1 |
G |
T |
11: 82,795,792 (GRCm39) |
Y218* |
probably null |
Het |
| Pdlim5 |
A |
T |
3: 141,983,623 (GRCm39) |
S377T |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,662,726 (GRCm39) |
M259K |
probably benign |
Het |
| Pou6f1 |
A |
G |
15: 100,481,979 (GRCm39) |
V268A |
probably benign |
Het |
| Prn |
C |
A |
2: 131,788,365 (GRCm39) |
L7I |
unknown |
Het |
| Prpf6 |
C |
T |
2: 181,250,035 (GRCm39) |
A65V |
possibly damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,345 (GRCm39) |
F138L |
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,018,379 (GRCm39) |
V781M |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,305,645 (GRCm39) |
|
probably null |
Het |
| Slc44a4 |
G |
A |
17: 35,147,676 (GRCm39) |
G606D |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,756,237 (GRCm39) |
C538* |
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,513,336 (GRCm39) |
Y537C |
probably benign |
Het |
| Speg |
T |
A |
1: 75,405,805 (GRCm39) |
L3003Q |
probably damaging |
Het |
| Ssr3 |
A |
G |
3: 65,299,886 (GRCm39) |
S25P |
probably benign |
Het |
| Stard13 |
C |
A |
5: 150,984,267 (GRCm39) |
R623L |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,181,605 (GRCm39) |
I376T |
probably damaging |
Het |
| Tigd4 |
C |
A |
3: 84,502,224 (GRCm39) |
F380L |
possibly damaging |
Het |
| Tmc4 |
T |
C |
7: 3,672,574 (GRCm39) |
K489E |
probably damaging |
Het |
| Tmem114 |
C |
T |
16: 8,242,353 (GRCm39) |
R55H |
probably benign |
Het |
| Tmem168 |
A |
G |
6: 13,602,937 (GRCm39) |
I143T |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,683,237 (GRCm39) |
T397I |
probably damaging |
Het |
| Tom1l1 |
C |
A |
11: 90,563,741 (GRCm39) |
R173L |
probably benign |
Het |
| Trim10 |
G |
A |
17: 37,182,644 (GRCm39) |
R170K |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,429,134 (GRCm39) |
Y222N |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,494 (GRCm39) |
I690F |
possibly damaging |
Het |
| Zfp1006 |
A |
G |
8: 129,945,794 (GRCm39) |
Y344H |
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 |
|
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 |
|
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'- AGAACTCCTGTCTTCTCCACTAAG -3'
(R):5'- CTGGACACTGACAGAATTCATG -3'
Sequencing Primer
(F):5'- CTCTCAGACATGAAGTAGGATTCTC -3'
(R):5'- TGAGAAAGTTATAGAAGCGTTTTCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation