Incidental Mutation 'R4285:Map2k1'
ID 322034
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 041080-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4285 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 64093066-64160887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 64119925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 127 (V127L)
Ref Sequence ENSEMBL: ENSMUSP00000005066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066]
AlphaFold P31938
Predicted Effect probably damaging
Transcript: ENSMUST00000005066
AA Change: V127L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
AA Change: V127L

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Meta Mutation Damage Score 0.9045 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (42/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl G A 3: 116,545,827 (GRCm39) S1323L possibly damaging Het
Ahnak T A 19: 8,994,203 (GRCm39) C5162* probably null Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cfap73 T C 5: 120,770,654 (GRCm39) K39E possibly damaging Het
Coq6 C T 12: 84,417,178 (GRCm39) probably benign Het
Dlc1 C T 8: 37,041,282 (GRCm39) E1316K possibly damaging Het
Dscam A G 16: 96,510,309 (GRCm39) probably null Het
Eya2 T A 2: 165,566,700 (GRCm39) N250K probably benign Het
Fat4 A G 3: 38,943,320 (GRCm39) I738V probably benign Het
Gria2 T G 3: 80,614,969 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,852,247 (GRCm39) D238E probably damaging Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Kctd19 G A 8: 106,109,581 (GRCm39) probably benign Het
Kdm1a T C 4: 136,309,347 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc1 C A 1: 153,110,298 (GRCm39) G1126W probably damaging Het
Magi3 C A 3: 103,923,184 (GRCm39) G1178* probably null Het
Man2a2 T C 7: 80,018,367 (GRCm39) D141G probably damaging Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mxd3 A G 13: 55,477,167 (GRCm39) S31P probably benign Het
Myo5b G A 18: 74,847,920 (GRCm39) E1053K probably benign Het
Nup50l T C 6: 96,142,733 (GRCm39) T104A probably benign Het
Or2m12 A C 16: 19,104,714 (GRCm39) F260V probably damaging Het
Or51a5 G T 7: 102,771,867 (GRCm39) Y37* probably null Het
Pex5l A G 3: 33,061,336 (GRCm39) I171T probably damaging Het
Plag1 A G 4: 3,905,654 (GRCm39) V12A probably benign Het
Podn C A 4: 107,878,893 (GRCm39) V180L possibly damaging Het
Prox2 T A 12: 85,141,698 (GRCm39) R168S probably benign Het
Prss29 A G 17: 25,541,231 (GRCm39) Y225C probably damaging Het
Rassf2 G A 2: 131,847,314 (GRCm39) T97I probably benign Het
Samm50 T C 15: 84,081,213 (GRCm39) V47A probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc20a2 G A 8: 23,051,365 (GRCm39) R466Q probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
St6galnac3 A C 3: 152,912,360 (GRCm39) V161G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Vat1l A G 8: 114,932,523 (GRCm39) E23G probably damaging Het
Vmn2r91 A G 17: 18,356,030 (GRCm39) T566A probably benign Het
Wls A T 3: 159,639,902 (GRCm39) H511L probably benign Het
Zfp644 G A 5: 106,782,984 (GRCm39) T1130I probably 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
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
R6212:Map2k1 UTSW 9 64,112,445 (GRCm39) missense probably damaging 1.00
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'- GTGACTATACCAGACTCCAGTC -3'
(R):5'- GCTGTTTCTCTTCTTACCTTCAGAAA -3'

Sequencing Primer
(F):5'- GGGTCTCCTAGGCCTCTAG -3'
(R):5'- TCCACCTGGAGATCAAAC -3'
Posted On 2015-06-20