Incidental Mutation 'IGL03350:Map3k2'
ID 419666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k2
Ensembl Gene ENSMUSG00000024383
Gene Name mitogen-activated protein kinase kinase kinase 2
Synonyms MEK kinase 2, Mekk2, 9630061B06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03350
Quality Score
Status
Chromosome 18
Chromosomal Location 32163089-32236751 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32212148 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 342 (D342G)
Ref Sequence ENSEMBL: ENSMUSP00000094326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096575]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000096575
AA Change: D342G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383
AA Change: D342G

DomainStartEndE-ValueType
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Brat1 T C 5: 140,705,995 L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 S456R probably damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Nfs1 T C 2: 156,127,740 E329G probably benign Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rad23a T C 8: 84,837,479 E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Ribc2 T A 15: 85,135,502 W162R probably damaging Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 T126A probably benign Het
Zpld1 A G 16: 55,241,329 probably benign Het
Zufsp G A 10: 33,928,111 R456C probably benign Het
Other mutations in Map3k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Map3k2 APN 18 32228239 missense probably benign 0.00
IGL00774:Map3k2 APN 18 32228239 missense probably benign 0.00
IGL01993:Map3k2 APN 18 32226631 nonsense probably null
IGL02043:Map3k2 APN 18 32207534 missense probably damaging 1.00
IGL02314:Map3k2 APN 18 32218500 splice site probably benign
IGL02441:Map3k2 APN 18 32200046 splice site probably benign
IGL03097:Map3k2 UTSW 18 32200017 missense probably benign 0.01
PIT4434001:Map3k2 UTSW 18 32210035 missense possibly damaging 0.51
R0086:Map3k2 UTSW 18 32218468 missense probably damaging 1.00
R0374:Map3k2 UTSW 18 32212173 splice site probably null
R0445:Map3k2 UTSW 18 32217210 missense probably damaging 0.96
R1158:Map3k2 UTSW 18 32217158 missense probably benign 0.00
R1415:Map3k2 UTSW 18 32228277 missense possibly damaging 0.82
R1667:Map3k2 UTSW 18 32203792 splice site probably benign
R1926:Map3k2 UTSW 18 32203110 missense probably damaging 0.99
R3795:Map3k2 UTSW 18 32226648 missense probably benign 0.00
R4607:Map3k2 UTSW 18 32199977 missense probably damaging 1.00
R4793:Map3k2 UTSW 18 32228150 missense probably damaging 1.00
R5332:Map3k2 UTSW 18 32207456 missense probably damaging 0.98
R5492:Map3k2 UTSW 18 32228136 missense probably damaging 1.00
R6008:Map3k2 UTSW 18 32203051 missense probably damaging 1.00
R6317:Map3k2 UTSW 18 32203033 missense probably damaging 1.00
R6356:Map3k2 UTSW 18 32211970 missense probably damaging 1.00
R6841:Map3k2 UTSW 18 32226629 missense probably benign 0.12
R6928:Map3k2 UTSW 18 32207540 critical splice donor site probably null
R7475:Map3k2 UTSW 18 32199962 missense possibly damaging 0.61
R7696:Map3k2 UTSW 18 32220594 missense probably benign 0.00
R8774:Map3k2 UTSW 18 32212064 missense probably damaging 1.00
R8774-TAIL:Map3k2 UTSW 18 32212064 missense probably damaging 1.00
R9103:Map3k2 UTSW 18 32220572 missense possibly damaging 0.91
R9282:Map3k2 UTSW 18 32209752 missense probably damaging 0.99
R9800:Map3k2 UTSW 18 32200016 missense possibly damaging 0.93
Posted On 2016-08-02