Incidental Mutation 'IGL03236:Map2k5'
ID414073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k5
Ensembl Gene ENSMUSG00000058444
Gene Namemitogen-activated protein kinase kinase 5
SynonymsMEK5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03236
Quality Score
Status
Chromosome9
Chromosomal Location63163768-63377902 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 63286392 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034920]
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,519,916 T11A probably benign Het
Abca17 A G 17: 24,326,476 probably benign Het
Aox2 G T 1: 58,309,997 E641* probably null Het
Arhgef10l G T 4: 140,611,360 D30E probably damaging Het
Arhgef37 A T 18: 61,523,826 I56N probably damaging Het
Cwf19l1 T C 19: 44,127,448 I181V probably benign Het
Dnaic2 A G 11: 114,757,249 probably benign Het
Elp2 A G 18: 24,622,243 probably benign Het
Epb41l4a G A 18: 33,810,219 S541L probably damaging Het
Ibsp A C 5: 104,306,005 N70H probably benign Het
Ikzf1 A G 11: 11,707,848 E35G probably damaging Het
Kdm5a T C 6: 120,438,988 V1623A probably damaging Het
Kpna7 A T 5: 144,985,694 V499E unknown Het
Krtap4-16 C A 11: 99,851,136 R146L unknown Het
Mfn2 A G 4: 147,882,105 F543S probably damaging Het
Mical3 A G 6: 120,969,384 L1052P probably benign Het
Mycbp2 T C 14: 103,298,698 N272S probably damaging Het
Ndel1 A G 11: 68,842,150 Y87H probably benign Het
Ndnf G A 6: 65,696,172 V45M possibly damaging Het
Nr3c1 A G 18: 39,486,391 I281T probably benign Het
Ntm A G 9: 29,109,506 V139A probably benign Het
Olfr205 A C 16: 59,328,837 V224G probably damaging Het
Pkhd1l1 T G 15: 44,581,826 V3698G probably damaging Het
Plcb1 A G 2: 135,346,306 Y773C probably damaging Het
Prkaca T A 8: 83,990,445 F138Y probably damaging Het
Qser1 T C 2: 104,786,532 T1312A probably benign Het
Slc47a2 T C 11: 61,313,679 E282G probably damaging Het
Smchd1 G A 17: 71,391,430 T1117I possibly damaging Het
Utp6 A G 11: 79,960,741 probably benign Het
Vmn1r66 T A 7: 10,275,063 K14N probably damaging Het
Vmn1r71 A T 7: 10,748,284 V93E probably benign Het
Zfp768 G A 7: 127,343,970 L329F possibly damaging Het
Other mutations in Map2k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Map2k5 APN 9 63281077 splice site probably benign
IGL01412:Map2k5 APN 9 63293706 missense probably damaging 1.00
IGL01766:Map2k5 APN 9 63377227 missense probably benign
IGL02246:Map2k5 APN 9 63377129 missense probably benign 0.10
IGL02270:Map2k5 APN 9 63322197 splice site probably null
IGL02793:Map2k5 APN 9 63257039 missense probably benign 0.32
R0007:Map2k5 UTSW 9 63293724 missense probably damaging 1.00
R0217:Map2k5 UTSW 9 63256975 critical splice donor site probably null
R0315:Map2k5 UTSW 9 63303151 missense probably damaging 1.00
R0801:Map2k5 UTSW 9 63357979 splice site probably benign
R1122:Map2k5 UTSW 9 63263163 missense probably damaging 1.00
R1822:Map2k5 UTSW 9 63235303 missense possibly damaging 0.79
R4308:Map2k5 UTSW 9 63235304 missense probably benign 0.02
R4421:Map2k5 UTSW 9 63164130 missense probably damaging 0.96
R4720:Map2k5 UTSW 9 63293719 missense probably damaging 1.00
R4869:Map2k5 UTSW 9 63322243 nonsense probably null
R5059:Map2k5 UTSW 9 63257014 missense probably benign 0.41
R5138:Map2k5 UTSW 9 63263158 missense probably damaging 0.99
R6005:Map2k5 UTSW 9 63281019 missense probably damaging 1.00
R6258:Map2k5 UTSW 9 63217365 missense probably benign 0.16
R6261:Map2k5 UTSW 9 63338098 missense probably benign 0.00
R6498:Map2k5 UTSW 9 63286401 missense possibly damaging 0.74
R6808:Map2k5 UTSW 9 63322246 missense probably benign 0.00
R7228:Map2k5 UTSW 9 63358022 missense probably damaging 1.00
Posted On2016-08-02