Incidental Mutation 'R5742:Map2k1'
ID 445619
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 043352-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5742 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 64093066-64160887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64101053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 208 (D208E)
Ref Sequence ENSEMBL: ENSMUSP00000005066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066]
AlphaFold P31938
Predicted Effect probably damaging
Transcript: ENSMUST00000005066
AA Change: D208E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936
AA Change: D208E

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152535
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,056,379 (GRCm39) A794T possibly damaging Het
Abca9 T G 11: 110,051,243 (GRCm39) E151A probably damaging Het
Abcb5 A G 12: 118,881,992 (GRCm39) V579A probably damaging Het
Apob T A 12: 8,057,191 (GRCm39) L1858Q probably damaging Het
Cerk C T 15: 86,025,773 (GRCm39) E223K probably damaging Het
Cntnap2 T A 6: 45,897,860 (GRCm39) Y179* probably null Het
Ddx60 A T 8: 62,401,955 (GRCm39) Y277F probably benign Het
Dlgap1 T G 17: 71,025,194 (GRCm39) V538G probably benign Het
Duox2 A G 2: 122,115,402 (GRCm39) I1050T probably benign Het
Dusp10 A G 1: 183,769,853 (GRCm39) probably null Het
Dync2h1 T A 9: 7,165,762 (GRCm39) I500F possibly damaging Het
Erich3 T A 3: 154,438,960 (GRCm39) C398S probably damaging Het
Fez1 G A 9: 36,761,743 (GRCm39) probably null Het
Fkbp3 A C 12: 65,116,812 (GRCm39) H41Q probably benign Het
Fras1 C G 5: 96,916,240 (GRCm39) Q3425E possibly damaging Het
Fuca1 T C 4: 135,650,286 (GRCm39) V119A probably damaging Het
Grhl2 A G 15: 37,328,616 (GRCm39) K414R probably damaging Het
Heatr5a A T 12: 52,002,335 (GRCm39) C200* probably null Het
Hmgcs2 A G 3: 98,204,832 (GRCm39) N330S probably benign Het
Hspd1 A G 1: 55,123,766 (GRCm39) V118A probably benign Het
Jmjd1c A G 10: 67,056,112 (GRCm39) T511A probably benign Het
Kat6b T C 14: 21,718,503 (GRCm39) S1061P probably damaging Het
Kcnh6 T C 11: 105,899,968 (GRCm39) V79A probably benign Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Klc4 C T 17: 46,953,197 (GRCm39) R111Q probably damaging Het
Lrp1 T C 10: 127,384,216 (GRCm39) D3641G probably damaging Het
Masp1 T A 16: 23,273,675 (GRCm39) M588L probably benign Het
Mgl2 T A 11: 70,027,510 (GRCm39) N239K probably benign Het
Mki67 G A 7: 135,306,102 (GRCm39) T625M probably benign Het
Ndufb5 T C 3: 32,801,930 (GRCm39) Y112H probably damaging Het
Npr3 A G 15: 11,883,494 (GRCm39) S312P probably damaging Het
Nuf2 A T 1: 169,344,191 (GRCm39) I125N probably damaging Het
Obox1 G A 7: 15,289,430 (GRCm39) G73D possibly damaging Het
Odad4 G A 11: 100,436,699 (GRCm39) G25R possibly damaging Het
Or51a43 G T 7: 103,717,412 (GRCm39) H275Q probably damaging Het
Or8g19 T A 9: 39,055,974 (GRCm39) F193I probably benign Het
Pcdhb15 T C 18: 37,607,820 (GRCm39) S351P probably damaging Het
Phc2 G T 4: 128,639,661 (GRCm39) R121L probably damaging Het
Pla2g2a A G 4: 138,560,653 (GRCm39) K87E probably benign Het
Plekhh2 T A 17: 84,905,408 (GRCm39) S1101T probably damaging Het
Ppp4r1 T C 17: 66,144,741 (GRCm39) I786T probably damaging Het
Prxl2a T C 14: 40,724,460 (GRCm39) E57G possibly damaging Het
Ros1 A T 10: 52,018,234 (GRCm39) probably null Het
Styxl2 A T 1: 165,927,023 (GRCm39) V863E probably benign Het
Trnt1 T A 6: 106,755,878 (GRCm39) L311* probably null Het
Vmn1r47 T A 6: 89,999,500 (GRCm39) L211M probably damaging Het
Zfp12 A G 5: 143,230,945 (GRCm39) E424G probably damaging Het
Zranb2 T A 3: 157,246,340 (GRCm39) Y17* probably null 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
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'- CCAGAGGCCCACTGTAATTC -3'
(R):5'- CTTTGGAGTTTGCAAGTCAAGG -3'

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