Incidental Mutation 'IGL02197:Map2k3'
ID 284088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k3
Ensembl Gene ENSMUSG00000018932
Gene Name mitogen-activated protein kinase kinase 3
Synonyms MAP kinase kinase 3, MKK3, Prkmk3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02197
Quality Score
Status
Chromosome 11
Chromosomal Location 60822880-60843637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60837590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 230 (Y230C)
Ref Sequence ENSEMBL: ENSMUSP00000019076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019076] [ENSMUST00000130269]
AlphaFold O09110
PDB Structure CRYSTAL STRUCTURE OF MAP KINASE P38 COMPLEXED TO THE DOCKING SITE ON ITS ACTIVATOR MKK3B [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000019076
AA Change: Y230C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019076
Gene: ENSMUSG00000018932
AA Change: Y230C

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
S_TKc 64 325 1.41e-73 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126043
Predicted Effect probably benign
Transcript: ENSMUST00000130269
SMART Domains Protein: ENSMUSP00000114430
Gene: ENSMUSG00000018932

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:Pkinase 64 173 1.3e-12 PFAM
Pfam:Pkinase_Tyr 64 173 3.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145828
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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 T C 2: 20,885,117 (GRCm39) S526G probably benign Het
Atad2b A T 12: 5,068,056 (GRCm39) N1018I possibly damaging Het
Baz1b A G 5: 135,237,951 (GRCm39) E209G probably benign Het
Bltp1 A G 3: 36,960,884 (GRCm39) T445A probably damaging Het
Capn11 T A 17: 45,950,782 (GRCm39) T264S probably benign Het
Cdh1 A G 8: 107,380,418 (GRCm39) E187G probably benign Het
Cps1 A G 1: 67,196,923 (GRCm39) I325V probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dmbt1 A G 7: 130,687,152 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,530,496 (GRCm39) D203G probably damaging Het
Eif2ak3 A G 6: 70,878,441 (GRCm39) Y1045C probably benign Het
Fam13a T A 6: 58,912,586 (GRCm39) D689V possibly damaging Het
Fnip1 T A 11: 54,384,200 (GRCm39) L342I probably damaging Het
Frk T A 10: 34,360,330 (GRCm39) N110K probably damaging Het
Gm5134 T C 10: 75,790,536 (GRCm39) probably null Het
Gm53 T C 11: 96,142,549 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,163 (GRCm39) noncoding transcript Het
Gm9936 A G 5: 114,995,152 (GRCm39) probably benign Het
Hk3 A G 13: 55,162,281 (GRCm39) F108L probably damaging Het
Homer2 A T 7: 81,260,147 (GRCm39) S296T probably benign Het
Itga2b T A 11: 102,357,145 (GRCm39) H245L probably benign Het
Ky T C 9: 102,414,985 (GRCm39) F299S possibly damaging Het
Lama5 A G 2: 179,849,012 (GRCm39) Y224H possibly damaging Het
Leng9 G T 7: 4,151,723 (GRCm39) L318I probably damaging Het
Lpin1 A G 12: 16,608,408 (GRCm39) probably null Het
Lrp2 T C 2: 69,297,224 (GRCm39) I3246V probably benign Het
Myef2 T C 2: 124,955,959 (GRCm39) probably null Het
Myh3 A T 11: 66,989,409 (GRCm39) I1510L probably benign Het
Mypn T C 10: 62,959,057 (GRCm39) D1088G possibly damaging Het
Nek9 C A 12: 85,354,704 (GRCm39) V745L probably null Het
Neu1 T A 17: 35,153,641 (GRCm39) V355D possibly damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or4c107 A G 2: 88,789,028 (GRCm39) T73A probably benign Het
Or6e1 T C 14: 54,519,409 (GRCm39) *314W probably null Het
Papola A T 12: 105,795,442 (GRCm39) N631I possibly damaging Het
Pcnx1 T C 12: 81,965,878 (GRCm39) S682P probably benign Het
Pcnx1 T C 12: 82,039,925 (GRCm39) S2071P possibly damaging Het
Pga5 A G 19: 10,649,277 (GRCm39) probably benign Het
Phlda1 T A 10: 111,343,014 (GRCm39) M250K probably damaging Het
Phox2b A G 5: 67,253,869 (GRCm39) probably benign Het
Pkdrej A G 15: 85,699,994 (GRCm39) Y1981H possibly damaging Het
Pold1 G A 7: 44,191,663 (GRCm39) P108S probably benign Het
Ptprg T G 14: 12,220,613 (GRCm38) F442V probably damaging Het
Rab36 A G 10: 74,887,874 (GRCm39) I248M probably damaging Het
Scnn1b G A 7: 121,502,113 (GRCm39) R257Q probably null Het
Sdc1 A G 12: 8,840,835 (GRCm39) Q200R possibly damaging Het
Slc10a7 A G 8: 79,242,292 (GRCm39) T60A probably damaging Het
Snx13 A G 12: 35,156,800 (GRCm39) D484G probably damaging Het
Tlr1 G A 5: 65,083,797 (GRCm39) T260M probably damaging Het
Tpcn1 A G 5: 120,691,596 (GRCm39) V286A probably damaging Het
Traip T G 9: 107,845,936 (GRCm39) L343R possibly damaging Het
Unc13b A G 4: 43,165,828 (GRCm39) H204R probably damaging Het
Unc80 A G 1: 66,569,224 (GRCm39) S960G probably benign Het
V1ra8 C T 6: 90,180,184 (GRCm39) P129L probably benign Het
Vps13b T A 15: 35,930,202 (GRCm39) F3980I probably benign Het
Vps13d T C 4: 144,854,879 (GRCm39) N2248S probably benign Het
Vps26c G T 16: 94,302,549 (GRCm39) probably benign Het
Wnk4 T C 11: 101,154,783 (GRCm39) L324P probably damaging Het
Other mutations in Map2k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Map2k3 APN 11 60,834,041 (GRCm39) missense possibly damaging 0.54
IGL00901:Map2k3 APN 11 60,832,747 (GRCm39) missense probably benign 0.00
IGL01620:Map2k3 APN 11 60,840,873 (GRCm39) missense possibly damaging 0.86
R1907:Map2k3 UTSW 11 60,823,055 (GRCm39) missense possibly damaging 0.70
R2069:Map2k3 UTSW 11 60,840,853 (GRCm39) missense probably damaging 1.00
R4447:Map2k3 UTSW 11 60,837,997 (GRCm39) missense probably damaging 1.00
R5106:Map2k3 UTSW 11 60,832,708 (GRCm39) missense probably damaging 0.97
R5163:Map2k3 UTSW 11 60,834,317 (GRCm39) missense probably damaging 1.00
R6043:Map2k3 UTSW 11 60,837,572 (GRCm39) missense probably benign 0.01
R6147:Map2k3 UTSW 11 60,840,776 (GRCm39) nonsense probably null
R6659:Map2k3 UTSW 11 60,833,150 (GRCm39) missense probably benign 0.45
R7206:Map2k3 UTSW 11 60,834,406 (GRCm39) missense
R7261:Map2k3 UTSW 11 60,836,393 (GRCm39) splice site probably null
R7389:Map2k3 UTSW 11 60,822,862 (GRCm39) unclassified probably benign
R8998:Map2k3 UTSW 11 60,840,817 (GRCm39) missense
R8999:Map2k3 UTSW 11 60,840,817 (GRCm39) missense
R9355:Map2k3 UTSW 11 60,823,055 (GRCm39) missense possibly damaging 0.73
R9729:Map2k3 UTSW 11 60,837,472 (GRCm39) missense
R9746:Map2k3 UTSW 11 60,822,929 (GRCm39) start gained probably benign
Posted On 2015-04-16