Incidental Mutation 'R6212:Map2k1'
ID 503514
Institutional Source Beutler Lab
Gene Symbol Map2k1
Ensembl Gene ENSMUSG00000004936
Gene Name mitogen-activated protein kinase kinase 1
Synonyms Mek1, Prkmk1, MAP kinase kinase 1
MMRRC Submission 044345-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6212 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 64093066-64160887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64112445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 155 (L155Q)
Ref Sequence ENSEMBL: ENSMUSP00000005066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066]
AlphaFold P31938
Predicted Effect probably damaging
Transcript: ENSMUST00000005066
AA Change: L155Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
AA Change: L155Q

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Meta Mutation Damage Score 0.8000 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 96% (52/54)
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 member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,172,505 (GRCm39) I116N probably damaging Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Ap3b1 C A 13: 94,630,207 (GRCm39) H821N unknown Het
Apex1 C T 14: 51,164,350 (GRCm39) P264S probably benign Het
Arhgap27 T C 11: 103,251,698 (GRCm39) Y10C probably damaging Het
Bag6 A G 17: 35,359,278 (GRCm39) T208A probably benign Het
Brd4 G T 17: 32,421,423 (GRCm39) P771Q probably damaging Het
Capn3 A G 2: 120,307,667 (GRCm39) S69G probably benign Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Celsr1 T C 15: 85,800,888 (GRCm39) H2519R probably benign Het
Chd8 T A 14: 52,439,155 (GRCm39) N48I probably damaging Het
Cmip T C 8: 118,103,895 (GRCm39) Y128H probably damaging Het
Dnhd1 C T 7: 105,353,255 (GRCm39) P2803S probably damaging Het
Dusp26 G A 8: 31,584,252 (GRCm39) D120N probably damaging Het
Epha6 T C 16: 60,245,719 (GRCm39) H160R possibly damaging Het
Erg C T 16: 95,180,022 (GRCm39) V215I probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gabbr2 T C 4: 46,681,189 (GRCm39) D124G probably damaging Het
Gapdh T C 6: 125,139,661 (GRCm39) H203R probably damaging Het
Garin1b T C 6: 29,319,373 (GRCm39) L59P probably damaging Het
Ggnbp2 T C 11: 84,727,503 (GRCm39) M42V possibly damaging Het
Hk2 C A 6: 82,705,823 (GRCm39) A827S probably benign Het
Hoxa5 T C 6: 52,179,694 (GRCm39) E227G probably damaging Het
Itgax C A 7: 127,729,504 (GRCm39) H31N possibly damaging Het
Itgax A G 7: 127,747,025 (GRCm39) D942G probably benign Het
Kars1 A T 8: 112,726,829 (GRCm39) probably null Het
Lama3 T C 18: 12,646,702 (GRCm39) F1739L probably damaging Het
Mcf2l A T 8: 13,067,431 (GRCm39) D1013V probably damaging Het
Mocs1 G A 17: 49,742,224 (GRCm39) G118S probably damaging Het
Ncam2 T C 16: 81,229,650 (GRCm39) S37P probably damaging Het
Nfxl1 A G 5: 72,673,553 (GRCm39) probably null Het
Nodal C T 10: 61,259,300 (GRCm39) H246Y possibly damaging Het
Nwd1 G A 8: 73,421,950 (GRCm39) V999M possibly damaging Het
Oaz3 T A 3: 94,342,375 (GRCm39) T139S probably benign Het
Or6z6 T C 7: 6,491,367 (GRCm39) probably null Het
Or7e165 A G 9: 19,694,585 (GRCm39) D52G probably damaging Het
P3h3 T A 6: 124,822,606 (GRCm39) T522S probably benign Het
Pgap1 A G 1: 54,554,052 (GRCm39) F457S probably damaging Het
Prkce T C 17: 86,866,729 (GRCm39) Y530H probably damaging Het
Ptpn3 A T 4: 57,270,070 (GRCm39) C31S probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Serpinb6e T A 13: 34,025,220 (GRCm39) N24Y probably damaging Het
Slc4a8 T C 15: 100,709,452 (GRCm39) V937A possibly damaging Het
Smgc T A 15: 91,734,830 (GRCm39) probably benign Het
Srcap T A 7: 127,148,861 (GRCm39) N2027K probably damaging Het
Stra6l T C 4: 45,884,664 (GRCm39) Y565H probably benign Het
Tmem262 A G 19: 6,130,668 (GRCm39) E62G possibly damaging Het
Tnrc6a T A 7: 122,742,965 (GRCm39) probably null Het
Txlnb T C 10: 17,675,057 (GRCm39) I70T probably damaging Het
Whrn A T 4: 63,412,923 (GRCm39) L25* probably null Het
Zfp326 T A 5: 106,058,097 (GRCm39) V412E probably damaging Het
Zfp831 A G 2: 174,487,661 (GRCm39) R779G possibly damaging Het
Other mutations in Map2k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Map2k1 APN 9 64,101,090 (GRCm39) missense probably benign 0.39
mystic_falls UTSW 9 64,098,548 (GRCm39) critical splice donor site probably null
R0366:Map2k1 UTSW 9 64,100,984 (GRCm39) splice site probably null
R4285:Map2k1 UTSW 9 64,119,925 (GRCm39) missense probably damaging 0.99
R5254:Map2k1 UTSW 9 64,095,027 (GRCm39) unclassified probably benign
R5261:Map2k1 UTSW 9 64,098,843 (GRCm39) missense probably damaging 1.00
R5741:Map2k1 UTSW 9 64,121,883 (GRCm39) missense possibly damaging 0.89
R5742:Map2k1 UTSW 9 64,101,053 (GRCm39) missense probably damaging 0.99
R5865:Map2k1 UTSW 9 64,098,548 (GRCm39) critical splice donor site probably null
R6299:Map2k1 UTSW 9 64,121,772 (GRCm39) missense possibly damaging 0.52
R6460:Map2k1 UTSW 9 64,094,577 (GRCm39) missense probably damaging 0.97
R6843:Map2k1 UTSW 9 64,094,973 (GRCm39) missense probably damaging 0.99
R7028:Map2k1 UTSW 9 64,101,105 (GRCm39) missense probably benign 0.36
R7115:Map2k1 UTSW 9 64,119,888 (GRCm39) missense probably damaging 0.99
R8885:Map2k1 UTSW 9 64,094,606 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTAACAAAGATACCTTGCCCTG -3'
(R):5'- AAGCCTGCCTGAGTTCTTTG -3'

Sequencing Primer
(F):5'- GTCATCCTATGGGAAATGCTCTAGC -3'
(R):5'- AGCCTGCCTGAGTTCTTTGATAGC -3'
Posted On 2018-02-27