Incidental Mutation 'R6843:Map2k1'
ID 534628
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 044949-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6843 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 64093066-64160887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64094973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 336 (D336E)
Ref Sequence ENSEMBL: ENSMUSP00000005066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066] [ENSMUST00000034965]
AlphaFold P31938
Predicted Effect probably damaging
Transcript: ENSMUST00000005066
AA Change: D336E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
AA Change: D336E

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034965
SMART Domains Protein: ENSMUSP00000034965
Gene: ENSMUSG00000032398

DomainStartEndE-ValueType
Pfam:SNAPc19 7 101 5.4e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Ghsr A C 3: 27,426,676 (GRCm39) D244A probably benign Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac1 A G 4: 129,436,383 (GRCm39) Y14H probably damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or1i2 T C 10: 78,447,891 (GRCm39) N195D probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Pcdhga11 A G 18: 37,889,378 (GRCm39) N129D probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Sqor T C 2: 122,626,900 (GRCm39) V7A probably benign Het
Sqor G T 2: 122,651,215 (GRCm39) G437V probably damaging Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Tvp23a G A 16: 10,264,884 (GRCm39) A9V probably benign Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T probably benign 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
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
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'- TCTTGCTGAGCTAAATCAAGGTC -3'
(R):5'- TCCCAATAAGGTGAGCCAGG -3'

Sequencing Primer
(F):5'- TCAGAAAGCAACAGGATGGTCCC -3'
(R):5'- CCAGGAGGAGTTAGAGGTCCC -3'
Posted On 2018-09-12