Mutagenetix > Incidental Mutations

Incidental Mutation 'R7228:Map2k5'

562290

Institutional Source

Beutler Lab

Gene Symbol

Map2k5

Ensembl Gene

ENSMUSG00000058444

Gene Name

mitogen-activated protein kinase kinase 5

Synonyms

MEK5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63163768-63377902 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63358022 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 75 (D75N)

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: D75N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: D75N

Domain	Start	End	E-Value	Type
PB1	18	97	7.59e-12	SMART
S_TKc	166	419	7.75e-71	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	C	9: 51,291,656	D66G	probably damaging	Het
Abca13	T	A	11: 9,297,653	F2467I	probably benign	Het
Acod1	A	G	14: 103,049,329	T23A	probably benign	Het
Adam2	T	A	14: 66,053,912	K306*	probably null	Het
Adcy10	A	C	1: 165,510,272	I152L	probably damaging	Het
Amigo1	T	C	3: 108,187,230	L15P	probably benign	Het
Aqp2	A	G	15: 99,582,124	N156S	probably benign	Het
AU041133	A	G	10: 82,151,271	K253E	possibly damaging	Het
Cacna1s	A	G	1: 136,071,059	T231A	possibly damaging	Het
Carf	A	T	1: 60,109,394	N83I	probably damaging	Het
Ccdc121	T	C	1: 181,510,967	K140R	probably benign	Het
Cdc42bpb	C	T	12: 111,305,093	V1111M	possibly damaging	Het
Cep78	A	G	19: 15,969,197	S424P	probably benign	Het
Cfap74	G	A	4: 155,465,050	V123M	unknown	Het
Crot	T	A	5: 8,976,051	N312I	probably damaging	Het
Cyp2c69	C	A	19: 39,881,166	M136I	possibly damaging	Het
Cyp4f39	A	G	17: 32,491,829	D454G	probably damaging	Het
Dnaja4	A	T	9: 54,714,285	H298L	possibly damaging	Het
Eif2ak4	C	T	2: 118,457,157	T1081M	probably damaging	Het
Eif3j2	T	C	18: 43,477,509	K80E	probably damaging	Het
Elp4	T	A	2: 105,792,302	I351F	probably damaging	Het
Fbxw26	C	G	9: 109,724,944	G209A	possibly damaging	Het
Fsip2	T	A	2: 82,992,307	V6128D	possibly damaging	Het
Gli3	A	G	13: 15,724,502	T825A	probably benign	Het
Gm2042	A	G	12: 87,957,949	E60G	probably benign	Het
Gm26566	G	T	4: 88,722,305	R111L	unknown	Het
Gm3138	C	A	14: 4,252,444	H147Q	probably damaging	Het
Gm4858	T	A	3: 93,073,686	C4S	possibly damaging	Het
Gucy1b1	T	A	3: 82,033,274	N615I	unknown	Het
Ighv14-1	A	T	12: 113,932,361	F8I	not run	Het
Kcnh8	C	T	17: 52,956,716	T747I	probably benign	Het
Kctd1	T	A	18: 15,062,412	S385C	possibly damaging	Het
Lmo7	T	A	14: 101,896,535	M672K	probably damaging	Het
Lrrc69	T	A	4: 14,775,027	K80N	probably damaging	Het
Matr3	T	C	18: 35,562,484	V4A	unknown	Het
Megf10	T	C	18: 57,189,589	C69R	probably damaging	Het
Mettl1	A	G	10: 127,045,283	E221G	probably benign	Het
Mkrn3	C	A	7: 62,419,667	R125S	probably benign	Het
Mlh3	A	T	12: 85,235,656	L1401Q	probably benign	Het
Nacad	T	C	11: 6,598,412	I1412V	probably benign	Het
Nkain4	A	T	2: 180,954,569		probably null	Het
Notch2	T	A	3: 98,137,317	C1518*	probably null	Het
Npw	A	G	17: 24,658,091	V112A	probably benign	Het
Olfr56	T	A	11: 49,134,879	M229K	possibly damaging	Het
Olfr713	A	T	7: 107,037,100	H315L	probably benign	Het
Pdzd2	T	C	15: 12,372,973	T2359A	probably benign	Het
Pdzd2	T	A	15: 12,458,145	K37*	probably null	Het
Phkb	T	G	8: 85,843,007		probably benign	Het
Prrc2b	C	A	2: 32,214,306	Y1265*	probably null	Het
Rab31	T	A	17: 65,717,553	M44L	probably benign	Het
Rap1gds1	C	T	3: 138,957,467	G373R	probably damaging	Het
Rapgef2	T	C	3: 79,069,218	D1279G	probably benign	Het
Rbm46	T	C	3: 82,842,533	D468G	probably benign	Het
Ryr3	T	C	2: 112,861,852	E1059G	probably damaging	Het
Sez6l2	T	C	7: 126,953,725	L221P	probably damaging	Het
Slit3	T	A	11: 35,599,418	V361E	probably damaging	Het
Soat1	G	A	1: 156,434,238	S400F	probably damaging	Het
Spp1	T	C	5: 104,440,445	S238P	probably damaging	Het
Tfap2c	T	C	2: 172,551,572	S136P	probably benign	Het
Tgfbr2	T	C	9: 116,109,943	E297G	probably damaging	Het
Trim2	T	C	3: 84,192,181	D228G	probably benign	Het
Wdr82	C	A	9: 106,176,672	A74E	probably benign	Het
Zfp451	T	C	1: 33,803,394	T136A	unknown	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
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
R7819:Map2k5	UTSW	9	63358018	missense	probably damaging	0.99
R8053:Map2k5	UTSW	9	63343425	missense	probably benign	0.16
Z1176:Map2k5	UTSW	9	63358038	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGCCCAAGAAACAGCATC -3'
(R):5'- TGGATGGTAACCGTGTGCAC -3'

Sequencing Primer
(F):5'- CACAACTCACATGGTGGCAGG -3'
(R):5'- CGAGTCTTACTGCTTTCATC -3'

Posted On

2019-06-26