Mutagenetix > Incidental Mutation

Incidental Mutation 'R0217:Map2k5'

33621

Institutional Source

Beutler Lab

Gene Symbol

Map2k5

Ensembl Gene

ENSMUSG00000058444

Gene Name

mitogen-activated protein kinase kinase 5

Synonyms

MEK5

MMRRC Submission

038466-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0217 (G1)

Quality Score

171

Status

Validated (trace)

Chromosome

Chromosomal Location

63071050-63285184 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 63164257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000034920

SMART Domains

Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444

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

0.9497

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	C	7: 143,447,956 (GRCm39)		probably benign	Het
Actr3	A	G	1: 125,335,150 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,933 (GRCm39)		probably benign	Het
Afap1l1	A	G	18: 61,879,940 (GRCm39)	V310A	probably damaging	Het
Alms1	T	A	6: 85,599,912 (GRCm39)	S2048R	probably damaging	Het
Aspm	T	A	1: 139,385,618 (GRCm39)	S421T	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,339,589 (GRCm39)	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,752,257 (GRCm39)		probably benign	Het
Cdc23	T	C	18: 34,784,718 (GRCm39)	T15A	unknown	Het
Cdk19	C	T	10: 40,352,254 (GRCm39)		probably benign	Het
Comp	A	C	8: 70,831,558 (GRCm39)	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230 (GRCm39)	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,382,625 (GRCm39)		probably benign	Het
Eci3	A	C	13: 35,132,072 (GRCm39)	S259A	probably benign	Het
Fcnb	T	C	2: 27,969,689 (GRCm39)	D126G	probably benign	Het
Foxk1	T	C	5: 142,387,649 (GRCm39)	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,825,231 (GRCm39)	Y61C	probably damaging	Het
Hmgcr	A	C	13: 96,788,488 (GRCm39)	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311 (GRCm39)	E100G	probably damaging	Het
Itgb2	G	T	10: 77,384,370 (GRCm39)		probably benign	Het
Jak2	T	A	19: 29,274,050 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,550,029 (GRCm39)	S2333P	probably damaging	Het
Man1a2	A	G	3: 100,524,353 (GRCm39)	L365P	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Megf8	T	A	7: 25,063,504 (GRCm39)	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,319,400 (GRCm39)		probably benign	Het
Or11h7	A	G	14: 50,891,552 (GRCm39)	N286S	probably damaging	Het
Or1e30	T	A	11: 73,678,214 (GRCm39)	V150E	possibly damaging	Het
Or5p1	C	A	7: 107,916,505 (GRCm39)	H135N	probably benign	Het
Pank3	T	A	11: 35,668,555 (GRCm39)	D181E	probably benign	Het
Pip5k1a	A	G	3: 94,981,302 (GRCm39)		probably null	Het
Plag1	A	C	4: 3,904,379 (GRCm39)	S271A	probably benign	Het
Plxna2	T	A	1: 194,326,906 (GRCm39)	I280N	probably damaging	Het
Polr1a	T	C	6: 71,940,687 (GRCm39)	V1007A	probably benign	Het
Ppm1h	T	A	10: 122,756,640 (GRCm39)	D428E	probably damaging	Het
Prelid2	A	T	18: 42,068,317 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,393,830 (GRCm39)	Y881C	probably damaging	Het
Rptor	T	C	11: 119,785,738 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,542,387 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,039,570 (GRCm39)	D843G	probably damaging	Het
Serpina3b	C	T	12: 104,096,986 (GRCm39)	A89V	probably damaging	Het
Serpinb9d	C	A	13: 33,382,005 (GRCm39)	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,874,700 (GRCm39)	V201I	probably benign	Het
Slc6a13	T	A	6: 121,301,279 (GRCm39)	N189K	probably damaging	Het
Smco1	G	T	16: 32,092,599 (GRCm39)	R90L	possibly damaging	Het
Stim1	T	A	7: 102,085,007 (GRCm39)	M653K	probably benign	Het
Stxbp1	T	C	2: 32,691,882 (GRCm39)	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,536,496 (GRCm39)		noncoding transcript	Het
Tgtp1	A	C	11: 48,878,146 (GRCm39)	S186R	probably benign	Het
Trpc7	C	T	13: 56,937,581 (GRCm39)	W570*	probably null	Het
Trpv4	C	A	5: 114,772,722 (GRCm39)	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,214,634 (GRCm39)	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,544,336 (GRCm39)	V653E	probably damaging	Het
Zfp113	T	C	5: 138,148,953 (GRCm39)	R64G	probably benign	Het
Zfp661	C	T	2: 127,419,211 (GRCm39)	E310K	probably damaging	Het
Zfp735	T	A	11: 73,602,112 (GRCm39)	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,939,293 (GRCm39)	L863P	probably damaging	Het
Zzef1	T	A	11: 72,779,894 (GRCm39)	I1889N	probably damaging	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
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
R7228:Map2k5	UTSW	9	63,265,304 (GRCm39)	missense	probably damaging	1.00
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'- AGTCCAAAAGCCACATGGGATAGC -3'
(R):5'- TGCTTCACCCTCCTGTAAAGTCGG -3'

Sequencing Primer
(F):5'- AGCAACGTGGAGTCTGCTG -3'
(R):5'- TGGAGCCTTCATCTACAACATTAGC -3'

Posted On

2013-05-09