Incidental Mutation 'R0007:Map2k5'
ID 8067
Institutional Source Beutler Lab
Gene Symbol Map2k5
Ensembl Gene ENSMUSG00000058444
Gene Name mitogen-activated protein kinase kinase 5
Synonyms MEK5
MMRRC Submission 038302-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0007 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 63071050-63285184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63201006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 209 (I209N)
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 damaging
Transcript: ENSMUST00000034920
AA Change: I209N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: I209N

DomainStartEndE-ValueType
PB1 18 97 7.59e-12 SMART
S_TKc 166 419 7.75e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213604
Meta Mutation Damage Score 0.8645 question?
Coding Region Coverage
  • 1x: 75.9%
  • 3x: 62.7%
  • 10x: 33.8%
  • 20x: 16.7%
Validation Efficiency 95% (54/57)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,147,466 (GRCm39) probably benign Het
Cdh8 A T 8: 99,957,088 (GRCm39) L205* probably null Het
Cntnap2 A C 6: 45,969,007 (GRCm39) N250H possibly damaging Het
Col7a1 T C 9: 108,790,471 (GRCm39) V973A unknown Het
Denr T A 5: 124,062,877 (GRCm39) Y127N probably damaging Het
Diaph3 C A 14: 87,104,056 (GRCm39) R776L possibly damaging Het
F2 T C 2: 91,460,952 (GRCm39) E260G probably benign Het
Il1rl1 C T 1: 40,485,331 (GRCm39) T261I possibly damaging Het
Lama3 T A 18: 12,630,938 (GRCm39) probably benign Het
Myo1b T A 1: 51,815,413 (GRCm39) R650S probably damaging Het
Nek10 T A 14: 14,840,574 (GRCm38) H153Q probably benign Het
Nlrp9a T C 7: 26,250,515 (GRCm39) probably benign Het
Pcnx4 T A 12: 72,602,353 (GRCm39) F281I possibly damaging Het
Pcsk5 C A 19: 17,632,225 (GRCm39) G314C probably damaging Het
Pkhd1l1 T C 15: 44,437,794 (GRCm39) probably benign Het
Polr2b T C 5: 77,488,284 (GRCm39) V828A probably benign Het
Slc44a4 G A 17: 35,140,230 (GRCm39) A60T probably damaging Het
Sparcl1 T A 5: 104,234,946 (GRCm39) Q523L probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trhr T C 15: 44,092,547 (GRCm39) probably benign Het
Trim16 A G 11: 62,719,944 (GRCm39) M84V probably benign Het
Trpm3 G A 19: 22,964,893 (GRCm39) A1453T probably benign Het
Zfp990 C A 4: 145,264,008 (GRCm39) H335Q probably benign 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
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
R6808:Map2k5 UTSW 9 63,229,528 (GRCm39) missense probably benign 0.00
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
Posted On 2012-11-20