Incidental Mutation 'R2069:Map2k3'
ID 226962
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 040074-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2069 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 60822880-60843637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60840853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 294 (F294S)
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: F294S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000019076
Gene: ENSMUSG00000018932
AA Change: F294S

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: ENSMUST00000145828
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (104/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,012,341 (GRCm39) V86A probably benign Het
Abcc3 A T 11: 94,255,243 (GRCm39) I601N probably damaging Het
Abl2 T A 1: 156,448,397 (GRCm39) probably null Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ahi1 C T 10: 20,835,895 (GRCm39) T76I probably damaging Het
Arhgap42 C T 9: 9,035,601 (GRCm39) G247D probably damaging Het
Arid2 C T 15: 96,260,471 (GRCm39) L407F probably damaging Het
Atp13a1 T C 8: 70,252,423 (GRCm39) F606L probably benign Het
Avl9 T A 6: 56,713,420 (GRCm39) probably benign Het
B3glct C T 5: 149,632,845 (GRCm39) A65V probably damaging Het
Bcorl1 T C X: 47,490,794 (GRCm39) probably benign Het
Bdp1 T C 13: 100,187,496 (GRCm39) T1624A probably benign Het
Bmp15 A G X: 6,228,075 (GRCm39) M263T probably benign Het
Brd8 T C 18: 34,747,532 (GRCm39) K110E probably damaging Het
Cachd1 A G 4: 100,848,041 (GRCm39) D1052G probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Ccdc113 G A 8: 96,283,924 (GRCm39) E333K probably benign Het
Ccnl2 A T 4: 155,896,938 (GRCm39) probably null Het
Ccr9 T C 9: 123,608,429 (GRCm39) F37S probably benign Het
Cdh20 A T 1: 110,065,889 (GRCm39) D721V probably damaging Het
Ceacam10 A T 7: 24,477,797 (GRCm39) N104I probably damaging Het
Cenpk T A 13: 104,372,684 (GRCm39) probably benign Het
Cfi A G 3: 129,652,453 (GRCm39) probably null Het
Chd1 T C 17: 15,962,556 (GRCm39) F771S probably damaging Het
Chil4 G A 3: 106,126,771 (GRCm39) L4F probably benign Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Coq8b A G 7: 26,956,802 (GRCm39) E485G probably damaging Het
Cse1l A G 2: 166,783,412 (GRCm39) S733G probably benign Het
Dnah5 G A 15: 28,312,534 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,566 (GRCm39) V156A probably damaging Het
Duox1 A T 2: 122,163,543 (GRCm39) T792S probably benign Het
Duox2 T C 2: 122,117,589 (GRCm39) D915G probably benign Het
Efcab5 A T 11: 77,063,147 (GRCm39) M115K probably benign Het
Eif2s1 G A 12: 78,923,959 (GRCm39) D139N probably benign Het
Erg A G 16: 95,161,937 (GRCm39) F390L probably damaging Het
Fam193b A T 13: 55,690,811 (GRCm39) S650R probably damaging Het
Fbp2 T A 13: 63,001,875 (GRCm39) K113N possibly damaging Het
Fnbp4 T G 2: 90,588,716 (GRCm39) S496A probably damaging Het
Gab3 C A X: 74,043,701 (GRCm39) R475L probably damaging Het
Gsap T C 5: 21,431,837 (GRCm39) probably benign Het
Gucy1a2 C T 9: 3,582,697 (GRCm39) L160F probably damaging Het
Hivep1 C T 13: 42,337,262 (GRCm39) A2447V possibly damaging Het
Insc G T 7: 114,403,828 (GRCm39) probably null Het
Jph2 A G 2: 163,181,605 (GRCm39) S520P possibly damaging Het
Kidins220 T A 12: 25,037,005 (GRCm39) probably benign Het
Krtap29-1 A G 11: 99,869,438 (GRCm39) S148P probably damaging Het
Ltbp2 A C 12: 84,840,507 (GRCm39) C1000G probably damaging Het
Map4k2 C A 19: 6,392,768 (GRCm39) probably benign Het
Mboat2 T C 12: 25,001,442 (GRCm39) V281A probably benign Het
Mdga2 G A 12: 66,615,691 (GRCm39) R570* probably null Het
Mlxipl A G 5: 135,135,859 (GRCm39) D28G probably damaging Het
Morc2b T C 17: 33,355,734 (GRCm39) I679M probably benign Het
Myh4 T C 11: 67,137,192 (GRCm39) probably benign Het
Nfib A C 4: 82,416,852 (GRCm39) L61R probably damaging Het
Noc2l C A 4: 156,325,907 (GRCm39) Y227* probably null Het
Nrde2 A G 12: 100,108,491 (GRCm39) S367P probably damaging Het
Nup93 C A 8: 94,970,367 (GRCm39) P89T probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Or10a2 A T 7: 106,673,826 (GRCm39) K264* probably null Het
Or11h4 T A 14: 50,974,033 (GRCm39) E195D possibly damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4k77 A G 2: 111,199,440 (GRCm39) I154M probably benign Het
Or6b9 A T 7: 106,555,494 (GRCm39) Y216* probably null Het
Or9r7 A G 10: 129,962,074 (GRCm39) I284T possibly damaging Het
Oxct1 G T 15: 4,122,007 (GRCm39) A319S probably null Het
P2ry10 A G X: 106,146,859 (GRCm39) S265G probably benign Het
Peak1 A T 9: 56,166,043 (GRCm39) N628K probably damaging Het
Pkdrej T A 15: 85,705,432 (GRCm39) Q168L probably benign Het
Plaat5 T C 19: 7,590,003 (GRCm39) S10P possibly damaging Het
Plec A G 15: 76,073,126 (GRCm39) M604T probably benign Het
Pmfbp1 A T 8: 110,258,735 (GRCm39) N680I possibly damaging Het
Pnma8b T C 7: 16,679,714 (GRCm39) W233R probably damaging Het
Pxn A G 5: 115,683,726 (GRCm39) N186S probably benign Het
Rsad1 A C 11: 94,439,951 (GRCm39) probably benign Het
Runx2 A G 17: 45,046,229 (GRCm39) I112T probably benign Het
S1pr2 A T 9: 20,878,790 (GRCm39) L346Q probably damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Slc36a4 T A 9: 15,638,276 (GRCm39) F234Y probably damaging Het
Slitrk2 T A X: 65,698,235 (GRCm39) V242D probably damaging Het
Sp100 A G 1: 85,608,863 (GRCm39) probably null Het
Spryd3 A C 15: 102,026,616 (GRCm39) L352V probably benign Het
Ssc4d A C 5: 135,999,171 (GRCm39) W11G possibly damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Tlk2 A T 11: 105,131,266 (GRCm39) Q204L probably benign Het
Tnfrsf21 A T 17: 43,348,829 (GRCm39) H147L possibly damaging Het
Tnrc18 A T 5: 142,751,842 (GRCm39) D1154E unknown Het
Trap1 A G 16: 3,886,200 (GRCm39) S86P probably benign Het
Trim32 T A 4: 65,533,013 (GRCm39) C523* probably null Het
Ttc38 G T 15: 85,722,989 (GRCm39) D146Y probably damaging Het
Ttc9 T A 12: 81,678,570 (GRCm39) L131Q probably damaging Het
Ttn T C 2: 76,557,192 (GRCm39) probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubash3b G A 9: 40,954,869 (GRCm39) P92S possibly damaging Het
Ube4a T C 9: 44,859,397 (GRCm39) N367S probably damaging Het
Ubr4 T A 4: 139,206,851 (GRCm39) H4899Q possibly damaging Het
Ufl1 C T 4: 25,269,036 (GRCm39) G265D possibly damaging Het
Vmn2r27 T A 6: 124,201,442 (GRCm39) I172F probably damaging Het
Vmn2r6 A T 3: 64,463,519 (GRCm39) H438Q possibly damaging Het
Vmn2r61 A G 7: 41,949,425 (GRCm39) D615G probably benign Het
Wdr24 T A 17: 26,045,256 (GRCm39) D330E probably damaging Het
Zbbx A T 3: 74,985,719 (GRCm39) N444K probably benign Het
Zc3h7b A T 15: 81,676,529 (GRCm39) Q757L probably damaging Het
Zpld2 T G 4: 133,929,252 (GRCm39) N351T possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTGTCAGCCCTCATACCAAG -3'
(R):5'- TGGGGCTACCTGATTCATCC -3'

Sequencing Primer
(F):5'- TGCTGGGGAATTATGGGTAAAATCC -3'
(R):5'- CATCCTTTTCTGCAAAGACTAGAAC -3'
Posted On 2014-09-17