Mutagenetix > Incidental Mutations

Incidental Mutation 'R0007:Map2k5'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

63163768-63377902 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63293724 bp

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]

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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,498,042		probably benign	Het
Cdh8	A	T	8: 99,230,456	L205*	probably null	Het
Cntnap2	A	C	6: 45,992,073	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,961,403	V973A	unknown	Het
Denr	T	A	5: 123,924,814	Y127N	probably damaging	Het
Diaph3	C	A	14: 86,866,620	R776L	possibly damaging	Het
F2	T	C	2: 91,630,607	E260G	probably benign	Het
Il1rl1	C	T	1: 40,446,171	T261I	possibly damaging	Het
Lama3	T	A	18: 12,497,881		probably benign	Het
Myo1b	T	A	1: 51,776,254	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574	H153Q	probably benign	Het
Nlrp9a	T	C	7: 26,551,090		probably benign	Het
Pcnx4	T	A	12: 72,555,579	F281I	possibly damaging	Het
Pcsk5	C	A	19: 17,654,861	G314C	probably damaging	Het
Pkhd1l1	T	C	15: 44,574,398		probably benign	Het
Polr2b	T	C	5: 77,340,437	V828A	probably benign	Het
Slc44a4	G	A	17: 34,921,254	A60T	probably damaging	Het
Sparcl1	T	A	5: 104,087,080	Q523L	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trhr	T	C	15: 44,229,151		probably benign	Het
Trim16	A	G	11: 62,829,118	M84V	probably benign	Het
Trpm3	G	A	19: 22,987,529	A1453T	probably benign	Het
Zfp990	C	A	4: 145,537,438	H335Q	probably benign	Het

Other mutations in Map2k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03236:Map2k5	APN	9	63286392	splice site	probably benign
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 On

2012-11-20