Incidental Mutation 'R8998:Map2k3'
ID 684824
Institutional Source Beutler Lab
Gene Symbol Map2k3
Ensembl Gene ENSMUSG00000018932
Gene Name mitogen-activated protein kinase kinase 3
Synonyms MAP kinase kinase 3, MKK3, Prkmk3
MMRRC Submission 068829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 60822880-60843637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60840817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 282 (V282A)
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
SMART Domains Protein: ENSMUSP00000019076
Gene: ENSMUSG00000018932
AA Change: V282A

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
S_TKc 64 325 1.41e-73 SMART
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
Meta Mutation Damage Score 0.3159 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,921,083 (GRCm39) E245G possibly damaging Het
Cd6 A T 19: 10,776,642 (GRCm39) C128S probably damaging Het
Cep41 T C 6: 30,666,165 (GRCm39) D98G probably benign Het
Cfap52 T C 11: 67,818,137 (GRCm39) K525E probably damaging Het
Ddx10 T C 9: 53,140,534 (GRCm39) E289G possibly damaging Het
Dnah1 T C 14: 31,018,235 (GRCm39) T1428A probably benign Het
Dsg3 T C 18: 20,666,684 (GRCm39) L631P probably damaging Het
Dusp19 T A 2: 80,461,271 (GRCm39) C187S probably benign Het
Efcab3 A T 11: 104,640,477 (GRCm39) M1072L probably benign Het
Fap T C 2: 62,367,368 (GRCm39) H338R probably benign Het
Gabrg1 T A 5: 70,973,378 (GRCm39) I59F probably benign Het
Glb1l3 A T 9: 26,764,914 (GRCm39) probably null Het
Igkv8-26 C A 6: 70,170,514 (GRCm39) A35E probably benign Het
Ikzf1 A G 11: 11,635,013 (GRCm39) probably benign Het
Krt18 A C 15: 101,939,874 (GRCm39) E357D probably damaging Het
Lbr C T 1: 181,646,512 (GRCm39) G470E probably damaging Het
Map2 A T 1: 66,452,473 (GRCm39) K454N possibly damaging Het
Men1 G A 19: 6,389,960 (GRCm39) V538I probably benign Het
Mfn1 T A 3: 32,623,683 (GRCm39) M621K possibly damaging Het
Mpdz C A 4: 81,202,882 (GRCm39) G1838* probably null Het
Msantd5f9 G C 4: 73,837,420 (GRCm39) N99K probably damaging Het
Mypn A T 10: 62,998,050 (GRCm39) L420* probably null Het
Nkx6-1 T C 5: 101,812,082 (GRCm39) M7V unknown Het
Notum G A 11: 120,545,207 (GRCm39) H451Y probably benign Het
Odad2 C A 18: 7,211,574 (GRCm39) V767L possibly damaging Het
Or11i1 A T 3: 106,728,999 (GRCm39) I292N probably damaging Het
Or2b28 A G 13: 21,531,988 (GRCm39) K297E probably damaging Het
Or6c3 A G 10: 129,309,386 (GRCm39) N275S probably benign Het
Pabpc4l A C 3: 46,400,783 (GRCm39) I287S probably benign Het
Pcdha2 C T 18: 37,073,428 (GRCm39) T353M possibly damaging Het
Plekha1 T C 7: 130,510,199 (GRCm39) I315T unknown Het
Ppp2r2b C T 18: 42,870,993 (GRCm39) A106T probably benign Het
Prkch T C 12: 73,742,973 (GRCm39) V209A probably damaging Het
Ptprc A G 1: 138,028,930 (GRCm39) C284R probably damaging Het
Ptprf A G 4: 118,083,671 (GRCm39) V804A probably benign Het
Rbp3 C T 14: 33,684,360 (GRCm39) R1130* probably null Het
Serpina6 C G 12: 103,617,988 (GRCm39) R275P probably damaging Het
Six3 T A 17: 85,931,164 (GRCm39) H273Q probably benign Het
Stk35 C A 2: 129,652,509 (GRCm39) P337T probably damaging Het
Supt5 A G 7: 28,037,848 (GRCm39) S2P unknown Het
Tnik A G 3: 28,719,920 (GRCm39) Y1264C probably damaging Het
Trim45 A G 3: 100,838,960 (GRCm39) T621A unknown Het
Tyrp1 T C 4: 80,763,094 (GRCm39) L327P probably damaging Het
Vmn2r69 A C 7: 85,060,307 (GRCm39) S426A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTTCAGTAGTTAGTTGGCCTGC -3'
(R):5'- TTTTACTCGTGCTGGAACTAGC -3'

Sequencing Primer
(F):5'- GTGTCAGCCCTCATACCAAGG -3'
(R):5'- ACTCGTGCTGGAACTAGCTTTAC -3'
Posted On 2021-10-11