Incidental Mutation 'IGL01766:Map2k5'
ID153657
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 #IGL01766
Quality Score
Status
Chromosome9
Chromosomal Location63163768-63377902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 63377227 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 11 (A11T)
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
AA Change: A11T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: A11T

DomainStartEndE-ValueType
PB1 18 97 7.59e-12 SMART
S_TKc 166 419 7.75e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216999
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
9330159F19Rik A G 10: 29,224,561 D310G probably benign Het
Ahnak A G 19: 9,000,118 T7A unknown Het
Arhgap21 T A 2: 20,849,637 D1648V possibly damaging Het
Cd274 T C 19: 29,385,410 *291Q probably null Het
Ceacam1 G A 7: 25,471,995 S348L probably damaging Het
Dcaf13 T C 15: 39,118,750 V37A probably benign Het
Degs1 A T 1: 182,279,095 F200I probably damaging Het
Dock4 G T 12: 40,446,379 E8* probably null Het
Dsc2 G A 18: 20,046,342 P223L possibly damaging Het
Exo1 A G 1: 175,892,021 T171A possibly damaging Het
Gen1 C T 12: 11,256,894 D92N probably damaging Het
Gm572 A T 4: 148,654,895 H60L possibly damaging Het
Gucy2c T C 6: 136,715,973 T719A probably benign Het
Heatr5a T C 12: 51,889,664 S1575G probably benign Het
Hspa12a T C 19: 58,799,467 E641G probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Luzp1 T C 4: 136,542,773 I769T possibly damaging Het
Myo9b A G 8: 71,290,517 E74G probably damaging Het
Myom1 T C 17: 71,077,288 V666A probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr389 T A 11: 73,777,075 N84I probably benign Het
Olfr816 A G 10: 129,911,780 F166S probably damaging Het
Olfr987 A G 2: 85,331,601 L99S probably benign Het
Plekhg1 A G 10: 3,873,400 T123A probably damaging Het
Polrmt T C 10: 79,736,568 E1077G possibly damaging Het
Ptprh A G 7: 4,580,916 W226R probably benign Het
Robo1 A G 16: 73,004,665 H1059R probably benign Het
Sesn1 A G 10: 41,898,369 T306A probably benign Het
Sox14 T A 9: 99,875,116 H190L probably damaging Het
Spag8 G T 4: 43,653,209 probably benign Het
Tomm40 T C 7: 19,703,082 H20R possibly damaging Het
Znhit3 G T 11: 84,916,133 probably benign 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
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
IGL03236:Map2k5 APN 9 63286392 splice site probably benign
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
R7819:Map2k5 UTSW 9 63358018 missense probably damaging 0.99
R8017:Map2k5 UTSW 9 63339121 missense probably damaging 0.98
R8053:Map2k5 UTSW 9 63343425 missense probably benign 0.16
R8247:Map2k5 UTSW 9 63371737 missense probably damaging 1.00
R8309:Map2k5 UTSW 9 63339079 critical splice donor site probably null
R8341:Map2k5 UTSW 9 63339098 missense probably damaging 1.00
Z1176:Map2k5 UTSW 9 63358038 missense probably damaging 0.99
Posted On2014-02-04