Mutagenetix > Incidental Mutation

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

045300-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63071050-63285184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63265304 bp (GRCm39)

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]

AlphaFold

Q9WVS7

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
Abca13	T	A	11: 9,247,653 (GRCm39)	F2467I	probably benign	Het
Acod1	A	G	14: 103,286,765 (GRCm39)	T23A	probably benign	Het
Adam2	T	A	14: 66,291,361 (GRCm39)	K306*	probably null	Het
Adcy10	A	C	1: 165,337,841 (GRCm39)	I152L	probably damaging	Het
Amigo1	T	C	3: 108,094,546 (GRCm39)	L15P	probably benign	Het
Aqp2	A	G	15: 99,480,005 (GRCm39)	N156S	probably benign	Het
AU041133	A	G	10: 81,987,105 (GRCm39)	K253E	possibly damaging	Het
Cacna1s	A	G	1: 135,998,797 (GRCm39)	T231A	possibly damaging	Het
Carf	A	T	1: 60,148,553 (GRCm39)	N83I	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,532 (GRCm39)	K140R	probably benign	Het
Cdc42bpb	C	T	12: 111,271,527 (GRCm39)	V1111M	possibly damaging	Het
Cep78	A	G	19: 15,946,561 (GRCm39)	S424P	probably benign	Het
Cfap74	G	A	4: 155,549,507 (GRCm39)	V123M	unknown	Het
Crot	T	A	5: 9,026,051 (GRCm39)	N312I	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Cyp4f39	A	G	17: 32,710,803 (GRCm39)	D454G	probably damaging	Het
Dnaja4	A	T	9: 54,621,569 (GRCm39)	H298L	possibly damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Eif3j2	T	C	18: 43,610,574 (GRCm39)	K80E	probably damaging	Het
Elp4	T	A	2: 105,622,647 (GRCm39)	I351F	probably damaging	Het
Fbxw26	C	G	9: 109,554,012 (GRCm39)	G209A	possibly damaging	Het
Fsip2	T	A	2: 82,822,651 (GRCm39)	V6128D	possibly damaging	Het
Gli3	A	G	13: 15,899,087 (GRCm39)	T825A	probably benign	Het
Gm2042	A	G	12: 87,924,719 (GRCm39)	E60G	probably benign	Het
Gm26566	G	T	4: 88,640,542 (GRCm39)	R111L	unknown	Het
Gm3138	C	A	14: 15,632,269 (GRCm39)	H147Q	probably damaging	Het
Gucy1b1	T	A	3: 81,940,581 (GRCm39)	N615I	unknown	Het
Ighv14-1	A	T	12: 113,895,981 (GRCm39)	F8I	not run	Het
Kcnh8	C	T	17: 53,263,744 (GRCm39)	T747I	probably benign	Het
Kctd1	T	A	18: 15,195,469 (GRCm39)	S385C	possibly damaging	Het
Lmo7	T	A	14: 102,133,971 (GRCm39)	M672K	probably damaging	Het
Lrrc69	T	A	4: 14,775,027 (GRCm39)	K80N	probably damaging	Het
Matr3	T	C	18: 35,695,537 (GRCm39)	V4A	unknown	Het
Megf10	T	C	18: 57,322,661 (GRCm39)	C69R	probably damaging	Het
Mettl1	A	G	10: 126,881,152 (GRCm39)	E221G	probably benign	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mlh3	A	T	12: 85,282,430 (GRCm39)	L1401Q	probably benign	Het
Nacad	T	C	11: 6,548,412 (GRCm39)	I1412V	probably benign	Het
Nkain4	A	T	2: 180,596,362 (GRCm39)		probably null	Het
Notch2	T	A	3: 98,044,633 (GRCm39)	C1518*	probably null	Het
Npw	A	G	17: 24,877,065 (GRCm39)	V112A	probably benign	Het
Or10a5	A	T	7: 106,636,307 (GRCm39)	H315L	probably benign	Het
Or2v1	T	A	11: 49,025,706 (GRCm39)	M229K	possibly damaging	Het
Pdzd2	T	C	15: 12,373,059 (GRCm39)	T2359A	probably benign	Het
Pdzd2	T	A	15: 12,458,231 (GRCm39)	K37*	probably null	Het
Phkb	T	G	8: 86,569,636 (GRCm39)		probably benign	Het
Pou2af2	T	C	9: 51,202,956 (GRCm39)	D66G	probably damaging	Het
Prrc2b	C	A	2: 32,104,318 (GRCm39)	Y1265*	probably null	Het
Rab31	T	A	17: 66,024,548 (GRCm39)	M44L	probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Rapgef2	T	C	3: 78,976,525 (GRCm39)	D1279G	probably benign	Het
Rbm46	T	C	3: 82,749,840 (GRCm39)	D468G	probably benign	Het
Ryr3	T	C	2: 112,692,197 (GRCm39)	E1059G	probably damaging	Het
Sez6l2	T	C	7: 126,552,897 (GRCm39)	L221P	probably damaging	Het
Slit3	T	A	11: 35,490,245 (GRCm39)	V361E	probably damaging	Het
Soat1	G	A	1: 156,261,808 (GRCm39)	S400F	probably damaging	Het
Spp1	T	C	5: 104,588,311 (GRCm39)	S238P	probably damaging	Het
Tdpoz8	T	A	3: 92,980,993 (GRCm39)	C4S	possibly damaging	Het
Tfap2c	T	C	2: 172,393,492 (GRCm39)	S136P	probably benign	Het
Tgfbr2	T	C	9: 115,939,011 (GRCm39)	E297G	probably damaging	Het
Trim2	T	C	3: 84,099,488 (GRCm39)	D228G	probably benign	Het
Wdr82	C	A	9: 106,053,871 (GRCm39)	A74E	probably benign	Het
Zfp451	T	C	1: 33,842,475 (GRCm39)	T136A	unknown	Het

Other mutations in Map2k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Map2k5	APN	9	63,188,359 (GRCm39)	splice site	probably benign
IGL01412:Map2k5	APN	9	63,200,988 (GRCm39)	missense	probably damaging	1.00
IGL01766:Map2k5	APN	9	63,284,509 (GRCm39)	missense	probably benign
IGL02246:Map2k5	APN	9	63,284,411 (GRCm39)	missense	probably benign	0.10
IGL02270:Map2k5	APN	9	63,229,479 (GRCm39)	splice site	probably null
IGL02793:Map2k5	APN	9	63,164,321 (GRCm39)	missense	probably benign	0.32
IGL03236:Map2k5	APN	9	63,193,674 (GRCm39)	splice site	probably benign
R0007:Map2k5	UTSW	9	63,201,006 (GRCm39)	missense	probably damaging	1.00
R0217:Map2k5	UTSW	9	63,164,257 (GRCm39)	critical splice donor site	probably null
R0315:Map2k5	UTSW	9	63,210,433 (GRCm39)	missense	probably damaging	1.00
R0801:Map2k5	UTSW	9	63,265,261 (GRCm39)	splice site	probably benign
R1122:Map2k5	UTSW	9	63,170,445 (GRCm39)	missense	probably damaging	1.00
R1822:Map2k5	UTSW	9	63,142,585 (GRCm39)	missense	possibly damaging	0.79
R4308:Map2k5	UTSW	9	63,142,586 (GRCm39)	missense	probably benign	0.02
R4421:Map2k5	UTSW	9	63,071,412 (GRCm39)	missense	probably damaging	0.96
R4720:Map2k5	UTSW	9	63,201,001 (GRCm39)	missense	probably damaging	1.00
R4869:Map2k5	UTSW	9	63,229,525 (GRCm39)	nonsense	probably null
R5059:Map2k5	UTSW	9	63,164,296 (GRCm39)	missense	probably benign	0.41
R5138:Map2k5	UTSW	9	63,170,440 (GRCm39)	missense	probably damaging	0.99
R6005:Map2k5	UTSW	9	63,188,301 (GRCm39)	missense	probably damaging	1.00
R6258:Map2k5	UTSW	9	63,124,647 (GRCm39)	missense	probably benign	0.16
R6261:Map2k5	UTSW	9	63,245,380 (GRCm39)	missense	probably benign	0.00
R6498:Map2k5	UTSW	9	63,193,683 (GRCm39)	missense	possibly damaging	0.74
R6808:Map2k5	UTSW	9	63,229,528 (GRCm39)	missense	probably benign	0.00
R7819:Map2k5	UTSW	9	63,265,300 (GRCm39)	missense	probably damaging	0.99
R8017:Map2k5	UTSW	9	63,246,403 (GRCm39)	missense	probably damaging	0.98
R8053:Map2k5	UTSW	9	63,250,707 (GRCm39)	missense	probably benign	0.16
R8247:Map2k5	UTSW	9	63,279,019 (GRCm39)	missense	probably damaging	1.00
R8309:Map2k5	UTSW	9	63,246,361 (GRCm39)	critical splice donor site	probably null
R8341:Map2k5	UTSW	9	63,246,380 (GRCm39)	missense	probably damaging	1.00
R8878:Map2k5	UTSW	9	63,250,667 (GRCm39)	critical splice donor site	probably null
R9149:Map2k5	UTSW	9	63,201,006 (GRCm39)	missense	probably damaging	1.00
Z1176:Map2k5	UTSW	9	63,265,320 (GRCm39)	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