Incidental Mutation 'R6808:Map2k5'
ID 533659
Institutional Source Beutler Lab
Gene Symbol Map2k5
Ensembl Gene ENSMUSG00000058444
Gene Name mitogen-activated protein kinase kinase 5
Synonyms MEK5
MMRRC Submission 044921-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6808 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 63071050-63285184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63229528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 168 (Y168H)
Ref Sequence ENSEMBL: ENSMUSP00000034920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034920]
AlphaFold Q9WVS7
PDB Structure Solution structure of the PB1 domain of mouse mitogen activated protein kinase kinase 5 (MAP2K5) [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000034920
AA Change: Y168H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: Y168H

DomainStartEndE-ValueType
PB1 18 97 7.59e-12 SMART
S_TKc 166 419 7.75e-71 SMART
Meta Mutation Damage Score 0.1023 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (40/40)
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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutants die at E10.5 and exhibit abnormal cardiac development and a decrease in proliferation and an increase in apoptosis in the heart, head, and dorsal regions of the embryo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A T 17: 33,652,098 (GRCm39) I53F probably damaging Het
Apol7b T A 15: 77,308,873 (GRCm39) D75V probably damaging Het
Brd8 C T 18: 34,741,528 (GRCm39) A387T probably damaging Het
Cacybp T C 1: 160,036,169 (GRCm39) probably null Het
Calcoco1 T C 15: 102,618,875 (GRCm39) K444E probably damaging Het
Cers2 G A 3: 95,228,320 (GRCm39) R120H probably benign Het
Chd4 T A 6: 125,099,086 (GRCm39) C1587S possibly damaging Het
Col11a1 A T 3: 113,888,593 (GRCm39) K286N possibly damaging Het
Creld2 A G 15: 88,709,413 (GRCm39) N308S probably damaging Het
Cyp2d12 T C 15: 82,440,934 (GRCm39) S151P probably damaging Het
Dlec1 A G 9: 118,955,242 (GRCm39) H642R probably benign Het
Eif6 T C 2: 155,665,206 (GRCm39) Y151C probably damaging Het
Erbb4 A T 1: 68,079,462 (GRCm39) M1206K probably benign Het
Fam178b G A 1: 36,639,216 (GRCm39) T361M probably damaging Het
Fbxo10 A G 4: 45,059,035 (GRCm39) F234S probably benign Het
Gcc2 A T 10: 58,094,064 (GRCm39) E13D probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gtf3c5 T C 2: 28,460,499 (GRCm39) K367E probably damaging Het
Ifi204 T C 1: 173,589,269 (GRCm39) E54G probably benign Het
Kalrn A T 16: 33,848,346 (GRCm39) I492N probably damaging Het
Kifbp T C 10: 62,410,923 (GRCm39) N140S possibly damaging Het
Mbip A C 12: 56,384,383 (GRCm39) probably null Het
Mcmdc2 C T 1: 10,004,242 (GRCm39) T574I probably damaging Het
Or10a3b T C 7: 108,444,747 (GRCm39) T157A probably benign Het
Or52j3 T G 7: 102,836,511 (GRCm39) D234E probably benign Het
Or5w22 A T 2: 87,363,285 (GRCm39) M303L probably benign Het
Or8d2 T A 9: 38,760,085 (GRCm39) I225N probably damaging Het
Or8g33 T C 9: 39,337,836 (GRCm39) Y177C probably damaging Het
Or9s27 A T 1: 92,516,768 (GRCm39) R239W probably damaging Het
Pdzd8 A G 19: 59,287,957 (GRCm39) *1148Q probably null Het
Phactr1 T A 13: 43,286,445 (GRCm39) I582N probably damaging Het
Phf20l1 T G 15: 66,502,762 (GRCm39) L714R probably damaging Het
Pramel32 T C 4: 88,548,291 (GRCm39) E38G probably damaging Het
Rcor3 T C 1: 191,822,179 (GRCm39) E6G possibly damaging Het
Skic3 T C 13: 76,333,298 (GRCm39) S1516P probably damaging Het
Sptlc2 G A 12: 87,397,069 (GRCm39) T239I possibly damaging Het
Tmc1 A T 19: 20,772,880 (GRCm39) V707D probably damaging Het
Tmem63b T A 17: 45,971,734 (GRCm39) E827V probably benign Het
Triml1 A G 8: 43,594,258 (GRCm39) S58P probably damaging Het
Zdbf2 A G 1: 63,347,687 (GRCm39) H2022R possibly damaging Het
Other mutations in Map2k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Map2k5 APN 9 63,188,359 (GRCm39) splice site probably benign
IGL01412:Map2k5 APN 9 63,200,988 (GRCm39) missense probably damaging 1.00
IGL01766:Map2k5 APN 9 63,284,509 (GRCm39) missense probably benign
IGL02246:Map2k5 APN 9 63,284,411 (GRCm39) missense probably benign 0.10
IGL02270:Map2k5 APN 9 63,229,479 (GRCm39) splice site probably null
IGL02793:Map2k5 APN 9 63,164,321 (GRCm39) missense probably benign 0.32
IGL03236:Map2k5 APN 9 63,193,674 (GRCm39) splice site probably benign
R0007:Map2k5 UTSW 9 63,201,006 (GRCm39) missense probably damaging 1.00
R0217:Map2k5 UTSW 9 63,164,257 (GRCm39) critical splice donor site probably null
R0315:Map2k5 UTSW 9 63,210,433 (GRCm39) missense probably damaging 1.00
R0801:Map2k5 UTSW 9 63,265,261 (GRCm39) splice site probably benign
R1122:Map2k5 UTSW 9 63,170,445 (GRCm39) missense probably damaging 1.00
R1822:Map2k5 UTSW 9 63,142,585 (GRCm39) missense possibly damaging 0.79
R4308:Map2k5 UTSW 9 63,142,586 (GRCm39) missense probably benign 0.02
R4421:Map2k5 UTSW 9 63,071,412 (GRCm39) missense probably damaging 0.96
R4720:Map2k5 UTSW 9 63,201,001 (GRCm39) missense probably damaging 1.00
R4869:Map2k5 UTSW 9 63,229,525 (GRCm39) nonsense probably null
R5059:Map2k5 UTSW 9 63,164,296 (GRCm39) missense probably benign 0.41
R5138:Map2k5 UTSW 9 63,170,440 (GRCm39) missense probably damaging 0.99
R6005:Map2k5 UTSW 9 63,188,301 (GRCm39) missense probably damaging 1.00
R6258:Map2k5 UTSW 9 63,124,647 (GRCm39) missense probably benign 0.16
R6261:Map2k5 UTSW 9 63,245,380 (GRCm39) missense probably benign 0.00
R6498:Map2k5 UTSW 9 63,193,683 (GRCm39) missense possibly damaging 0.74
R7228:Map2k5 UTSW 9 63,265,304 (GRCm39) missense probably damaging 1.00
R7819:Map2k5 UTSW 9 63,265,300 (GRCm39) missense probably damaging 0.99
R8017:Map2k5 UTSW 9 63,246,403 (GRCm39) missense probably damaging 0.98
R8053:Map2k5 UTSW 9 63,250,707 (GRCm39) missense probably benign 0.16
R8247:Map2k5 UTSW 9 63,279,019 (GRCm39) missense probably damaging 1.00
R8309:Map2k5 UTSW 9 63,246,361 (GRCm39) critical splice donor site probably null
R8341:Map2k5 UTSW 9 63,246,380 (GRCm39) missense probably damaging 1.00
R8878:Map2k5 UTSW 9 63,250,667 (GRCm39) critical splice donor site probably null
R9149:Map2k5 UTSW 9 63,201,006 (GRCm39) missense probably damaging 1.00
Z1176:Map2k5 UTSW 9 63,265,320 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCAGAATTCCAGTGTCAAATG -3'
(R):5'- TGACCCAGGCAAACAAATTGTC -3'

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