Incidental Mutation 'IGL01412:Map2k5'
ID80091
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 #IGL01412
Quality Score
Status
Chromosome9
Chromosomal Location63163768-63377902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 63293706 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 215 (I215N)
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 damaging
Transcript: ENSMUST00000034920
AA Change: I215N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: I215N

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G A 15: 12,815,872 Q222* probably null Het
Adamts2 A G 11: 50,795,403 E1016G probably benign Het
Agmo G A 12: 37,402,141 E269K possibly damaging Het
Agrn A T 4: 156,171,034 probably benign Het
Alpk1 A T 3: 127,679,972 L794Q possibly damaging Het
Asb14 T A 14: 26,915,065 L588H probably damaging Het
Btbd16 A T 7: 130,805,819 probably null Het
Cacna1h T C 17: 25,391,950 K625E probably benign Het
Cdh23 T C 10: 60,314,694 D2499G probably damaging Het
Cdhr2 A T 13: 54,725,894 D687V probably damaging Het
Cops8 G T 1: 90,604,431 L45F possibly damaging Het
D130043K22Rik A G 13: 24,887,860 H929R probably damaging Het
Dnah12 A G 14: 26,771,005 E1241G probably damaging Het
Dock4 T A 12: 40,730,041 probably benign Het
Dsg1c A G 18: 20,247,461 I8V probably benign Het
Dst T C 1: 34,242,620 V5435A probably benign Het
Fat4 A G 3: 38,891,181 I1408V probably benign Het
Fhit G T 14: 9,870,065 H72N probably damaging Het
Foxp2 C A 6: 15,376,758 probably benign Het
Fpgt T C 3: 155,086,722 Q556R probably benign Het
Galntl6 T A 8: 57,777,294 E30V probably damaging Het
Gemin4 A T 11: 76,213,485 V150D probably benign Het
Gm13101 A C 4: 143,964,995 V386G probably damaging Het
Grm8 C T 6: 27,762,461 R255H probably damaging Het
Hapln3 G A 7: 79,117,436 probably null Het
Htt T A 5: 34,898,572 L2609Q probably damaging Het
Igdcc4 A G 9: 65,114,449 probably benign Het
Isx T C 8: 74,892,678 L166P probably benign Het
Kcnt2 G A 1: 140,570,417 M884I probably benign Het
Leo1 A G 9: 75,466,242 N650D probably benign Het
Man1a A G 10: 54,074,714 V195A probably benign Het
Mier2 A G 10: 79,541,180 *542R probably null Het
Mrgbp T A 2: 180,583,416 F55Y probably damaging Het
Mum1 T A 10: 80,234,329 probably null Het
Nadsyn1 A T 7: 143,808,790 probably null Het
Nedd9 A T 13: 41,315,786 Y630* probably null Het
Nrp1 T C 8: 128,418,707 probably benign Het
Olfr1141 A T 2: 87,753,117 L292Q probably damaging Het
Olfr617 A G 7: 103,584,907 N295S probably damaging Het
Olfr638 T A 7: 104,003,635 M120K probably damaging Het
Olfr725 A G 14: 50,035,313 I30T probably benign Het
Olfr836 T A 9: 19,121,599 C212S probably benign Het
Pcnx A T 12: 81,906,465 I127F probably damaging Het
Pik3ap1 T C 19: 41,375,890 E130G possibly damaging Het
Pkd1l1 G T 11: 8,950,409 T44N possibly damaging Het
Polr1c A G 17: 46,244,209 S226P probably damaging Het
Prep A G 10: 45,153,112 Y536C probably damaging Het
Ptprb A G 10: 116,343,915 T1413A probably benign Het
Ryr2 T A 13: 11,742,036 K1577N probably benign Het
Selplg G T 5: 113,819,468 T33K probably damaging Het
Slc26a5 T A 5: 21,815,736 I505L probably damaging Het
Slc39a6 T C 18: 24,585,356 N548S probably damaging Het
Sp7 T C 15: 102,359,363 T3A possibly damaging Het
Tango6 T C 8: 106,818,499 V998A probably benign Het
Tas2r130 A T 6: 131,630,510 Y107* probably null Het
Tjp2 T C 19: 24,100,775 E918G probably damaging Het
Trim12a C T 7: 104,306,995 A113T probably benign Het
Zan T A 5: 137,393,032 D4730V unknown Het
Zfp607a A T 7: 27,878,684 D393V probably damaging Het
Other mutations in Map2k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Map2k5 APN 9 63281077 splice site probably benign
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
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 On2013-11-05