Incidental Mutation 'IGL00334:Map2k3'
ID 4584
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 # IGL00334
Quality Score
Status
Chromosome 11
Chromosomal Location 60822880-60843637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60834041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 77 (V77A)
Ref Sequence ENSEMBL: ENSMUSP00000114430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019076] [ENSMUST00000130269]
AlphaFold O09110
Predicted Effect probably benign
Transcript: ENSMUST00000019076
AA Change: V77A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000019076
Gene: ENSMUSG00000018932
AA Change: V77A

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 possibly damaging
Transcript: ENSMUST00000130269
AA Change: V77A

PolyPhen 2 Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114430
Gene: ENSMUSG00000018932
AA Change: V77A

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: 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsb T G 13: 94,075,787 (GRCm39) H423Q probably benign Het
Bltp2 T A 11: 78,160,400 (GRCm39) L620I possibly damaging Het
Ces1f T C 8: 93,994,620 (GRCm39) T264A probably benign Het
Clcn6 C A 4: 148,102,359 (GRCm39) probably null Het
Cyb5r3 C A 15: 83,044,605 (GRCm39) A138S probably benign Het
Cyp3a57 A T 5: 145,307,834 (GRCm39) N197Y probably damaging Het
Dctn2 A G 10: 127,113,559 (GRCm39) probably benign Het
Dnmt1 C T 9: 20,821,566 (GRCm39) A1197T possibly damaging Het
Dock2 T C 11: 34,595,488 (GRCm39) D436G probably damaging Het
Drd4 A G 7: 140,872,096 (GRCm39) N49S probably damaging Het
Dst T A 1: 34,205,373 (GRCm39) V521D probably damaging Het
Eif5b T C 1: 38,080,800 (GRCm39) S714P probably damaging Het
Glis3 A G 19: 28,517,664 (GRCm39) I178T probably damaging Het
Gm11565 T A 11: 99,806,021 (GRCm39) C138S possibly damaging Het
H1f8 T A 6: 115,924,588 (GRCm39) probably benign Het
Hdx T A X: 110,492,578 (GRCm39) I623F probably benign Het
Huwe1 T G X: 150,668,623 (GRCm39) L843V probably damaging Het
Hyal2 T C 9: 107,447,604 (GRCm39) Y86H probably damaging Het
Irf7 A T 7: 140,844,553 (GRCm39) S157T probably benign Het
Jmjd4 T A 11: 59,346,140 (GRCm39) M331K probably damaging Het
Kdm2a A T 19: 4,406,926 (GRCm39) D112E possibly damaging Het
Mamdc2 A C 19: 23,356,138 (GRCm39) Y103* probably null Het
Mideas G A 12: 84,219,629 (GRCm39) R442* probably null Het
Mprip T A 11: 59,639,417 (GRCm39) D403E probably benign Het
Mutyh T A 4: 116,676,516 (GRCm39) V496D possibly damaging Het
Nbeal1 T C 1: 60,321,042 (GRCm39) V2051A probably damaging Het
Nbeal1 T C 1: 60,367,262 (GRCm39) L2575P probably damaging Het
Or10j5 T G 1: 172,785,158 (GRCm39) S265R possibly damaging Het
Or51a6 T C 7: 102,604,311 (GRCm39) K173E probably benign Het
Pcdhb6 T A 18: 37,467,277 (GRCm39) I66N probably damaging Het
Pck2 T C 14: 55,780,098 (GRCm39) Y89H probably benign Het
Poglut3 T A 9: 53,309,330 (GRCm39) probably benign Het
Poglut3 C A 9: 53,309,328 (GRCm39) probably benign Het
Polr3e C T 7: 120,540,034 (GRCm39) Q594* probably null Het
Ptpro T G 6: 137,371,907 (GRCm39) probably null Het
Rfx4 A G 10: 84,615,917 (GRCm39) K28E possibly damaging Het
Shox2 T C 3: 66,888,774 (GRCm39) E39G possibly damaging Het
Slc22a16 A T 10: 40,449,930 (GRCm39) D122V probably benign Het
Smr3a A C 5: 88,155,919 (GRCm39) probably benign Het
Spmip8 G A 8: 96,039,676 (GRCm39) R31H probably damaging Het
Taf4 G T 2: 179,618,418 (GRCm39) L8M unknown Het
Tbkbp1 T A 11: 97,028,474 (GRCm39) probably benign Het
Tmem120b G T 5: 123,253,230 (GRCm39) E210D probably damaging Het
Tmem120b A T 5: 123,253,229 (GRCm39) probably null Het
Trim21 C T 7: 102,208,805 (GRCm39) V305M probably damaging Het
Ube4a A T 9: 44,859,439 (GRCm39) L353Q probably damaging Het
Zfyve1 A T 12: 83,621,572 (GRCm39) N274K probably benign Het
Other mutations in Map2k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02197:Map2k3 APN 11 60,837,590 (GRCm39) missense probably damaging 1.00
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 2012-04-20