Incidental Mutation 'R5741:Map2k1'
ID 444798
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5741 (G1)
Quality Score 159
Status Not validated
Chromosome 9
Chromosomal Location 64093066-64160887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64121883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 30 (L30Q)
Ref Sequence ENSEMBL: ENSMUSP00000005066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066]
AlphaFold P31938
Predicted Effect possibly damaging
Transcript: ENSMUST00000005066
AA Change: L30Q

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
AA Change: L30Q

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T G 11: 106,919,315 (GRCm39) F220C probably damaging Het
Acox3 C T 5: 35,765,668 (GRCm39) H140Y probably benign Het
Ano3 A T 2: 110,488,618 (GRCm39) I938K probably benign Het
Ap3m1 A C 14: 21,095,788 (GRCm39) I14S possibly damaging Het
Arg1 T C 10: 24,793,897 (GRCm39) T127A probably benign Het
Asah2 A G 19: 31,986,015 (GRCm39) Y552H probably damaging Het
Cfap97d2 A T 8: 13,784,835 (GRCm39) Q32L possibly damaging Het
Chst12 A G 5: 140,509,688 (GRCm39) N105S probably benign Het
Cped1 G A 6: 22,123,620 (GRCm39) V458I probably benign Het
Cyld T G 8: 89,471,474 (GRCm39) I786S probably damaging Het
Cyp2j8 C T 4: 96,332,880 (GRCm39) V489I probably benign Het
Dlgap4 T C 2: 156,552,968 (GRCm39) Y462H probably damaging Het
Dnah5 C A 15: 28,246,513 (GRCm39) A617D probably benign Het
Erc2 T A 14: 28,024,826 (GRCm39) probably null Het
Fancm A G 12: 65,148,389 (GRCm39) N668S probably benign Het
Gm5592 A G 7: 40,938,625 (GRCm39) I636V probably benign Het
Gtf2h2 A T 13: 100,617,066 (GRCm39) C247S probably benign Het
Hyal5 T A 6: 24,876,494 (GRCm39) H122Q probably damaging Het
Ints10 G A 8: 69,257,574 (GRCm39) R258K probably damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrguk T A 6: 34,025,802 (GRCm39) D199E probably damaging Het
Lyst A G 13: 13,808,615 (GRCm39) D95G probably benign Het
Nell1 G A 7: 50,210,638 (GRCm39) probably null Het
Nfatc3 T A 8: 106,805,698 (GRCm39) I181N probably damaging Het
Nipbl T C 15: 8,354,133 (GRCm39) K1668R possibly damaging Het
Or5b113 A G 19: 13,342,847 (GRCm39) N285S probably damaging Het
Or7e170 A G 9: 19,794,857 (GRCm39) V248A possibly damaging Het
Or8d2 T A 9: 38,759,899 (GRCm39) L163* probably null Het
Otud7b C T 3: 96,051,615 (GRCm39) T189I probably damaging Het
Pkia A T 3: 7,507,105 (GRCm39) E62D probably benign Het
Plcb3 G A 19: 6,931,790 (GRCm39) Q1154* probably null Het
Pole4 T C 6: 82,628,447 (GRCm39) E105G probably damaging Het
Ppp1r3a A G 6: 14,719,882 (GRCm39) V344A probably damaging Het
Ptpn21 A T 12: 98,645,548 (GRCm39) L1130Q probably damaging Het
Rapgef5 A G 12: 117,719,764 (GRCm39) D564G probably damaging Het
Samhd1 C T 2: 156,954,751 (GRCm39) R387H probably benign Het
Spag1 A G 15: 36,183,849 (GRCm39) K65E possibly damaging Het
Spata31d1d A T 13: 59,876,500 (GRCm39) V345D possibly damaging Het
Spin1 G A 13: 51,303,171 (GRCm39) V255I possibly damaging Het
Tmem171 A G 13: 98,828,559 (GRCm39) V197A probably benign Het
Tmigd1 T C 11: 76,797,916 (GRCm39) V86A possibly damaging Het
Ttn T C 2: 76,542,417 (GRCm39) D31777G probably damaging Het
Tymp T A 15: 89,260,639 (GRCm39) M60L probably benign Het
Ugdh T C 5: 65,584,866 (GRCm39) T19A probably damaging Het
Vmn1r234 G T 17: 21,449,731 (GRCm39) C215F probably benign Het
Wnt5b T C 6: 119,410,690 (GRCm39) D250G probably damaging Het
Xrn1 T A 9: 95,927,604 (GRCm39) C1463S probably benign Het
Zfp831 T A 2: 174,486,945 (GRCm39) I540N possibly damaging Het
Zmynd8 T C 2: 165,681,937 (GRCm39) D189G 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
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
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'- GGAGACCTTGAAGACCACTC -3'
(R):5'- GACCCTCATTGTTCAATGCTGC -3'

Sequencing Primer
(F):5'- TTGAAGACCACTCCACCGTTG -3'
(R):5'- TCAATGCTGCGTTGTGAGATAAAGC -3'
Posted On 2016-11-21