Incidental Mutation 'R2202:Map2k2'
ID 238765
Institutional Source Beutler Lab
Gene Symbol Map2k2
Ensembl Gene ENSMUSG00000035027
Gene Name mitogen-activated protein kinase kinase 2
Synonyms MEK2, Prkmk2, MAP kinase/Erk kinase
MMRRC Submission 040204-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2202 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80941749-80960531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80955213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 14 (S14P)
Ref Sequence ENSEMBL: ENSMUSP00000151784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048223] [ENSMUST00000105331] [ENSMUST00000136743] [ENSMUST00000143517] [ENSMUST00000220329]
AlphaFold Q63932
Predicted Effect probably benign
Transcript: ENSMUST00000048223
SMART Domains Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027

low complexity region 36 52 N/A INTRINSIC
Pfam:Pkinase_Tyr 72 191 1.2e-10 PFAM
Pfam:Pkinase 72 196 5e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105331
AA Change: S235P

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: S235P

low complexity region 36 52 N/A INTRINSIC
S_TKc 72 369 8.75e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128937
Predicted Effect probably benign
Transcript: ENSMUST00000136743
SMART Domains Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027

Pfam:Pkinase 1 85 5.8e-14 PFAM
Pfam:Pkinase_Tyr 1 85 6.6e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143517
AA Change: S235P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: S235P

low complexity region 36 52 N/A INTRINSIC
S_TKc 72 370 1.24e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220329
AA Change: S14P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
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 known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are viable, fertile, and apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,056,011 (GRCm39) V249A possibly damaging Het
9930111J21Rik2 C G 11: 48,910,149 (GRCm39) L761F probably damaging Het
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abca14 T C 7: 119,888,764 (GRCm39) Y1237H probably benign Het
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Adamts7 A T 9: 90,062,729 (GRCm39) K394N probably damaging Het
Ahdc1 A G 4: 132,793,220 (GRCm39) E1487G possibly damaging Het
AI987944 T C 7: 41,023,950 (GRCm39) E343G probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Atg16l1 A C 1: 87,694,737 (GRCm39) Q138P probably benign Het
Atp1b1 G T 1: 164,281,084 (GRCm39) T11K probably benign Het
Calr3 A G 8: 73,188,683 (GRCm39) L40S probably damaging Het
Ccar1 A C 10: 62,581,066 (GRCm39) D1119E unknown Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cdk12 T G 11: 98,101,464 (GRCm39) S441A unknown Het
Ces4a T A 8: 105,872,746 (GRCm39) V333E probably damaging Het
Cfap61 T C 2: 146,056,600 (GRCm39) L1193P probably damaging Het
Chd2 A T 7: 73,128,416 (GRCm39) D856E probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Cln3 T A 7: 126,178,390 (GRCm39) H211L probably benign Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dcstamp T A 15: 39,617,708 (GRCm39) V39E probably damaging Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Duox1 A G 2: 122,175,194 (GRCm39) T1331A probably benign Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Fcer2a T C 8: 3,738,557 (GRCm39) E60G possibly damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Fnbp1l A T 3: 122,340,611 (GRCm39) M463K probably benign Het
Garem2 A G 5: 30,319,762 (GRCm39) D408G probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Gpc3 T A X: 51,486,083 (GRCm39) I344F probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Il15ra T A 2: 11,723,155 (GRCm39) probably null Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Irak1 G A X: 73,060,744 (GRCm39) T193I probably damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Letm1 C A 5: 33,926,830 (GRCm39) V156L possibly damaging Het
Lrrc24 G A 15: 76,607,111 (GRCm39) P95L probably damaging Het
Me3 T C 7: 89,499,589 (GRCm39) Y535H probably damaging Het
Nfatc2ip T C 7: 125,990,467 (GRCm39) E178G probably benign Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or10a2 T A 7: 106,673,523 (GRCm39) W163R probably damaging Het
Or2m12 C T 16: 19,105,047 (GRCm39) A149T probably benign Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pid1 T A 1: 84,016,159 (GRCm39) I69F probably damaging Het
Pkhd1 A G 1: 20,607,584 (GRCm39) S1091P probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Plxnd1 T C 6: 115,939,725 (GRCm39) N1418S probably benign Het
Pmm1 T C 15: 81,840,601 (GRCm39) T82A probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Ptprz1 C T 6: 23,000,649 (GRCm39) T913M possibly damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Rbm8a2 T C 1: 175,806,420 (GRCm39) E19G possibly damaging Het
Rgs3 T C 4: 62,608,741 (GRCm39) S336P probably damaging Het
Saxo5 A T 8: 3,529,028 (GRCm39) D201V probably benign Het
Serpina11 G T 12: 103,952,233 (GRCm39) T179K probably damaging Het
Serpina1f T C 12: 103,659,655 (GRCm39) N209S possibly damaging Het
Serpinf2 G A 11: 75,327,588 (GRCm39) T159I probably benign Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc22a20 A T 19: 6,021,553 (GRCm39) I483N possibly damaging Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Timd5 A G 11: 46,419,394 (GRCm39) N70S probably benign Het
Tln1 C T 4: 43,553,083 (GRCm39) probably null Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tmx3 T C 18: 90,546,037 (GRCm39) F206S probably damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Trappc10 A G 10: 78,034,876 (GRCm39) probably null Het
Tssk2 A G 16: 17,716,603 (GRCm39) D2G possibly damaging Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Ube3b G A 5: 114,527,135 (GRCm39) V118M probably damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Vmn2r53 T A 7: 12,335,366 (GRCm39) Y98F probably damaging Het
Vmn2r58 T A 7: 41,513,594 (GRCm39) N350Y probably benign Het
Vmn2r82 A T 10: 79,192,519 (GRCm39) H32L probably benign Het
Wsb1 T C 11: 79,131,212 (GRCm39) I395V probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfat T C 15: 68,051,709 (GRCm39) D695G probably benign Het
Zfp358 G T 8: 3,546,995 (GRCm39) V526F possibly damaging Het
Zmat1 A G X: 133,873,861 (GRCm39) L476P possibly damaging Het
Other mutations in Map2k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Map2k2 APN 10 80,956,907 (GRCm39) missense probably damaging 0.99
IGL00825:Map2k2 APN 10 80,954,052 (GRCm39) missense probably benign 0.12
IGL00826:Map2k2 APN 10 80,954,052 (GRCm39) missense probably benign 0.12
R0972:Map2k2 UTSW 10 80,955,482 (GRCm39) missense probably benign 0.00
R1772:Map2k2 UTSW 10 80,956,934 (GRCm39) missense probably damaging 1.00
R2203:Map2k2 UTSW 10 80,955,213 (GRCm39) missense probably damaging 0.98
R4010:Map2k2 UTSW 10 80,944,769 (GRCm39) missense probably damaging 1.00
R4876:Map2k2 UTSW 10 80,950,947 (GRCm39) missense probably damaging 1.00
R6905:Map2k2 UTSW 10 80,944,701 (GRCm39) missense probably damaging 1.00
R7073:Map2k2 UTSW 10 80,942,017 (GRCm39) missense probably benign
R7741:Map2k2 UTSW 10 80,956,877 (GRCm39) missense probably benign
R7832:Map2k2 UTSW 10 80,954,040 (GRCm39) missense possibly damaging 0.80
R7960:Map2k2 UTSW 10 80,954,968 (GRCm39) missense probably benign 0.09
R8052:Map2k2 UTSW 10 80,950,900 (GRCm39) missense probably damaging 1.00
R8172:Map2k2 UTSW 10 80,959,442 (GRCm39) splice site probably null
R8544:Map2k2 UTSW 10 80,955,376 (GRCm39) missense possibly damaging 0.94
R8851:Map2k2 UTSW 10 80,955,097 (GRCm39) missense probably damaging 1.00
R9021:Map2k2 UTSW 10 80,955,159 (GRCm39) missense probably damaging 0.98
R9047:Map2k2 UTSW 10 80,955,498 (GRCm39) missense probably benign
R9224:Map2k2 UTSW 10 80,954,008 (GRCm39) missense possibly damaging 0.74
R9226:Map2k2 UTSW 10 80,955,193 (GRCm39) missense possibly damaging 0.93
RF004:Map2k2 UTSW 10 80,951,002 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-02