Incidental Mutation 'R2202:Map2k2'
ID238765
Institutional Source Beutler Lab
Gene Symbol Map2k2
Ensembl Gene ENSMUSG00000035027
Gene Namemitogen-activated protein kinase kinase 2
SynonymsPrkmk2, MEK2, MAP kinase/Erk kinase
MMRRC Submission 040204-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2202 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location81105915-81133975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81119379 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000048223
SMART Domains Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 63,898,668 V249A possibly damaging Het
5330417C22Rik C T 3: 108,475,043 G270E probably damaging Het
9930111J21Rik2 C G 11: 49,019,322 L761F probably damaging Het
Abca1 G A 4: 53,090,291 T386I probably damaging Het
Abca14 T C 7: 120,289,541 Y1237H probably benign Het
Abi3bp T G 16: 56,613,203 L550R probably benign Het
Abi3bp C T 16: 56,650,725 R578* probably null Het
Adamts7 A T 9: 90,180,676 K394N probably damaging Het
Ahdc1 A G 4: 133,065,909 E1487G possibly damaging Het
AI987944 T C 7: 41,374,526 E343G probably damaging Het
Ankrd26 T A 6: 118,523,882 H876L possibly damaging Het
Atg16l1 A C 1: 87,767,015 Q138P probably benign Het
Atp1b1 G T 1: 164,453,515 T11K probably benign Het
Calr3 A G 8: 72,434,839 L40S probably damaging Het
Ccar1 A C 10: 62,745,287 D1119E unknown Het
Cdan1 C A 2: 120,720,760 C1093F probably damaging Het
Cdk12 T G 11: 98,210,638 S441A unknown Het
Ces4a T A 8: 105,146,114 V333E probably damaging Het
Cfap61 T C 2: 146,214,680 L1193P probably damaging Het
Chd2 A T 7: 73,478,668 D856E probably benign Het
Chil3 T C 3: 106,164,246 D34G probably benign Het
Cln3 T A 7: 126,579,218 H211L probably benign Het
Cpa1 A G 6: 30,641,819 D214G probably damaging Het
Cttnbp2 T G 6: 18,408,694 D976A probably benign Het
Dcstamp T A 15: 39,754,312 V39E probably damaging Het
Dicer1 C T 12: 104,731,038 V87M probably damaging Het
Duox1 A G 2: 122,344,713 T1331A probably benign Het
Fam184a T A 10: 53,652,434 Q29L probably damaging Het
Fcer2a T C 8: 3,688,557 E60G possibly damaging Het
Flnc C T 6: 29,459,508 P2536S probably damaging Het
Fnbp1l A T 3: 122,546,962 M463K probably benign Het
Garem2 A G 5: 30,114,764 D408G probably benign Het
Gm12169 A G 11: 46,528,567 N70S probably benign Het
Gm6370 T A 5: 146,493,729 D241E probably benign Het
Gpc3 T A X: 52,397,206 I344F probably damaging Het
Gtf2e1 T A 16: 37,511,542 E390D possibly damaging Het
Hmgcs2 T A 3: 98,291,183 I134N probably damaging Het
Il15ra T A 2: 11,718,344 probably null Het
Ints8 A T 4: 11,225,712 M615K possibly damaging Het
Irak1 G A X: 74,017,138 T193I probably damaging Het
Jmjd1c A G 10: 67,239,463 probably null Het
Knstrn T A 2: 118,830,975 probably null Het
Letm1 C A 5: 33,769,486 V156L possibly damaging Het
Lrrc24 G A 15: 76,722,911 P95L probably damaging Het
Me3 T C 7: 89,850,381 Y535H probably damaging Het
Nfatc2ip T C 7: 126,391,295 E178G probably benign Het
Nop56 T A 2: 130,277,568 I51N probably damaging Het
Ntn4 C T 10: 93,707,353 R314W probably damaging Het
Nudt5 A T 2: 5,855,983 I22F possibly damaging Het
Olfr1198 C G 2: 88,746,609 G93A probably benign Het
Olfr164 C T 16: 19,286,297 A149T probably benign Het
Olfr714 T A 7: 107,074,316 W163R probably damaging Het
Pbrm1 A G 14: 31,032,449 D142G possibly damaging Het
Pdcl A T 2: 37,352,044 N231K probably benign Het
Pdlim2 C T 14: 70,164,779 R296H probably damaging Het
Pid1 T A 1: 84,038,438 I69F probably damaging Het
Pkhd1 A G 1: 20,537,360 S1091P probably benign Het
Plcb4 T C 2: 136,002,594 I144T probably benign Het
Plxnd1 T C 6: 115,962,764 N1418S probably benign Het
Pmm1 T C 15: 81,956,400 T82A probably benign Het
Prrc2b C A 2: 32,223,464 Q1970K probably damaging Het
Ptprz1 C T 6: 23,000,650 T913M possibly damaging Het
Ralgapa1 T C 12: 55,612,800 probably null Het
Rbm8a2 T C 1: 175,978,854 E19G possibly damaging Het
Rgs3 T C 4: 62,690,504 S336P probably damaging Het
Serpina11 G T 12: 103,985,974 T179K probably damaging Het
Serpina1f T C 12: 103,693,396 N209S possibly damaging Het
Serpinf2 G A 11: 75,436,762 T159I probably benign Het
Slc19a1 T C 10: 77,041,924 C98R possibly damaging Het
Slc22a20 A T 19: 5,971,525 I483N possibly damaging Het
Spata31d1d A G 13: 59,731,621 C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 Y119* probably null Het
Susd1 A G 4: 59,349,843 L531P possibly damaging Het
Tex45 A T 8: 3,479,028 D201V probably benign Het
Tln1 C T 4: 43,553,083 probably null Het
Tmem39b A C 4: 129,693,923 S32A probably benign Het
Tmx3 T C 18: 90,527,913 F206S probably damaging Het
Tnfsf14 T C 17: 57,190,638 D198G possibly damaging Het
Trappc10 A G 10: 78,199,042 probably null Het
Tssk2 A G 16: 17,898,739 D2G possibly damaging Het
Ttn T C 2: 76,771,641 N18559S possibly damaging Het
Ube3b G A 5: 114,389,074 V118M probably damaging Het
Vmn1r23 T C 6: 57,926,619 D58G probably benign Het
Vmn2r53 T A 7: 12,601,439 Y98F probably damaging Het
Vmn2r58 T A 7: 41,864,170 N350Y probably benign Het
Vmn2r82 A T 10: 79,356,685 H32L probably benign Het
Wsb1 T C 11: 79,240,386 I395V probably benign Het
Zfat T C 15: 68,179,860 D695G probably benign Het
Zfp358 G T 8: 3,496,995 V526F possibly damaging Het
Zfp651 A G 9: 121,762,637 T8A possibly damaging Het
Zmat1 A G X: 134,973,112 L476P possibly damaging Het
Other mutations in Map2k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Map2k2 APN 10 81121073 missense probably damaging 0.99
IGL00825:Map2k2 APN 10 81118218 missense probably benign 0.12
IGL00826:Map2k2 APN 10 81118218 missense probably benign 0.12
R0972:Map2k2 UTSW 10 81119648 missense probably benign 0.00
R1772:Map2k2 UTSW 10 81121100 missense probably damaging 1.00
R2203:Map2k2 UTSW 10 81119379 missense probably damaging 0.98
R4010:Map2k2 UTSW 10 81108935 missense probably damaging 1.00
R4876:Map2k2 UTSW 10 81115113 missense probably damaging 1.00
R6905:Map2k2 UTSW 10 81108867 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATGCACAGAGGTAAGCGG -3'
(R):5'- AGTTCCTTGGCATCAGGTGG -3'

Sequencing Primer
(F):5'- TAAGTGGGCCAGGCTGG -3'
(R):5'- ATACCTCCCGATGGCCAG -3'
Posted On2014-10-02