Incidental Mutation 'IGL00780:Map2k5'
ID 11894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k5
Ensembl Gene ENSMUSG00000058444
Gene Name mitogen-activated protein kinase kinase 5
Synonyms MEK5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00780
Quality Score
Status
Chromosome 9
Chromosomal Location 63071050-63285184 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 63188359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444

DomainStartEndE-ValueType
PB1 18 97 7.59e-12 SMART
S_TKc 166 419 7.75e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213604
Coding Region Coverage
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 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
Abi3bp A G 16: 56,423,168 (GRCm39) D440G probably null Het
Acvrl1 T A 15: 101,035,248 (GRCm39) F258Y probably damaging Het
Ano1 A G 7: 144,209,367 (GRCm39) S278P probably damaging Het
Aoc1l3 A G 6: 48,964,673 (GRCm39) D227G probably damaging Het
AW146154 T C 7: 41,129,883 (GRCm39) Y411C probably damaging Het
Blnk T A 19: 40,922,890 (GRCm39) K412M probably benign Het
Clpb C T 7: 101,427,815 (GRCm39) R387* probably null Het
Dach1 A T 14: 98,138,858 (GRCm39) N528K possibly damaging Het
Dag1 A T 9: 108,086,818 (GRCm39) W108R probably damaging Het
Elapor2 A G 5: 9,472,367 (GRCm39) T355A probably damaging Het
Fbn2 T C 18: 58,229,060 (GRCm39) T717A probably damaging Het
Fnbp1l T C 3: 122,342,898 (GRCm39) D394G possibly damaging Het
Gaa T A 11: 119,165,117 (GRCm39) probably null Het
Gpr158 A T 2: 21,831,629 (GRCm39) K910* probably null Het
Grb14 G A 2: 64,745,062 (GRCm39) P99S probably damaging Het
Gtf2h2 T C 13: 100,615,729 (GRCm39) D264G probably benign Het
Heatr3 A G 8: 88,897,568 (GRCm39) I667V probably benign Het
Hsp90ab1 T C 17: 45,880,490 (GRCm39) N407S probably damaging Het
Htr2a A T 14: 74,943,645 (GRCm39) L408F possibly damaging Het
Itgb5 G A 16: 33,705,345 (GRCm39) V212I probably damaging Het
Kmt2c G A 5: 25,516,049 (GRCm39) T2598I probably benign Het
Lcorl T C 5: 45,904,637 (GRCm39) N137S probably damaging Het
Lef1 T C 3: 130,986,779 (GRCm39) F212L possibly damaging Het
Med15 G A 16: 17,471,351 (GRCm39) T642I probably damaging Het
Nasp C A 4: 116,461,196 (GRCm39) E274* probably null Het
Nup210l A T 3: 90,098,156 (GRCm39) probably benign Het
Pgghg T C 7: 140,525,264 (GRCm39) probably null Het
Plpp1 A G 13: 112,988,040 (GRCm39) I54M probably damaging Het
Poldip3 C T 15: 83,022,680 (GRCm39) G35R probably damaging Het
Ppig A T 2: 69,563,268 (GRCm39) E81D possibly damaging Het
Ptpn21 G T 12: 98,646,630 (GRCm39) T999K probably damaging Het
Rad9b T C 5: 122,482,310 (GRCm39) I142V probably benign Het
Ralgps1 A T 2: 33,163,639 (GRCm39) H139Q probably damaging Het
Rdh16f2 T C 10: 127,710,961 (GRCm39) probably null Het
Sema3d G A 5: 12,574,293 (GRCm39) R265Q probably damaging Het
Tdp1 T C 12: 99,859,907 (GRCm39) V198A possibly damaging Het
Trim43c A T 9: 88,723,909 (GRCm39) D145V probably benign Het
Trpc4 C T 3: 54,209,596 (GRCm39) P654S probably damaging Het
Yy1 T G 12: 108,781,463 (GRCm39) I376S probably damaging Het
Zfp773 T A 7: 7,136,113 (GRCm39) Q161L probably benign Het
Other mutations in Map2k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06