Incidental Mutation 'IGL00770:Map3k2'
ID277892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k2
Ensembl Gene ENSMUSG00000024383
Gene Namemitogen-activated protein kinase kinase kinase 2
SynonymsMEK kinase 2, Mekk2, 9630061B06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00770
Quality Score
Status
Chromosome18
Chromosomal Location32163089-32236751 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32228239 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 584 (P584L)
Ref Sequence ENSEMBL: ENSMUSP00000094326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096575]
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

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,388,539 A1397T possibly damaging Het
Aldob A G 4: 49,536,843 S349P probably benign Het
Cd2 A T 3: 101,283,029 probably null Het
Cmtm2a A G 8: 104,292,930 S43P probably damaging Het
Cts6 T C 13: 61,198,339 probably benign Het
E2f3 A T 13: 29,918,704 D68E probably damaging Het
Ect2 G A 3: 27,098,443 R869W probably damaging Het
Eml1 A G 12: 108,514,515 probably null Het
Fundc1 T A X: 17,558,013 probably null Het
Gabrb1 G T 5: 72,108,446 probably null Het
Lrrk2 T G 15: 91,801,833 probably benign Het
Mindy2 T C 9: 70,631,033 D340G probably benign Het
Nav3 T C 10: 109,816,263 D877G probably damaging Het
Nol9 T C 4: 152,052,015 S515P probably benign Het
Osgepl1 A G 1: 53,320,246 I305V probably benign Het
Pign A G 1: 105,597,756 V449A probably benign Het
Rad54b G A 4: 11,593,765 R131K probably benign Het
Rgl3 A T 9: 21,987,722 probably benign Het
Scn2a A G 2: 65,735,853 D1407G probably damaging Het
Sf3b3 A T 8: 110,817,638 I790N probably damaging Het
Srebf1 C T 11: 60,205,139 R358Q probably damaging Het
Tmem18 A G 12: 30,588,721 R133G unknown Het
Tnfrsf11b T G 15: 54,254,072 R262S probably benign Het
Tsc1 A T 2: 28,665,011 H171L probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Wdcp A G 12: 4,855,303 E608G probably damaging Het
Other mutations in Map3k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03350:Map3k2 APN 18 32212148 missense probably damaging 0.98
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
Posted On2015-04-16