Mutagenetix > Incidental Mutations

Incidental Mutation 'R7819:Map2k5'

601758

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 #

R7819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63163768-63377902 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63358018 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 76 (E76G)

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: E76G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: E76G

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: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	G	6: 52,179,274		probably benign	Het
Abcg3	T	C	5: 104,977,728	T30A	probably benign	Het
Adra1b	A	T	11: 43,835,367	V241D	probably damaging	Het
Ahctf1	A	T	1: 179,768,315	N170K	probably benign	Het
Ahr	A	G	12: 35,510,000	L218P	probably damaging	Het
Apol8	C	T	15: 77,749,759	V206M	probably damaging	Het
Arhgap11a	T	A	2: 113,834,918		probably null	Het
B3galnt1	T	C	3: 69,575,775	Y51C	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C77080	A	G	4: 129,222,483	V841A	probably benign	Het
Capn3	T	C	2: 120,464,165	V98A	probably benign	Het
Casp12	T	C	9: 5,352,805	L209P	probably damaging	Het
Ccdc96	A	T	5: 36,485,985	Q445L	probably damaging	Het
Cdc37	A	G	9: 21,140,964	S301P	probably damaging	Het
Cep89	A	T	7: 35,432,543	H634L	probably benign	Het
Chmp3	T	A	6: 71,561,024	Y12*	probably null	Het
Clgn	A	T	8: 83,408,200	I156F	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
Col4a3bp	A	T	13: 96,629,067	T447S	possibly damaging	Het
Crb2	T	A	2: 37,791,591	N815K	probably benign	Het
Csgalnact2	A	C	6: 118,121,089	L97V	possibly damaging	Het
Ctsh	T	A	9: 90,060,503	M37K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,216,798	E394G	probably damaging	Het
Ddx31	T	G	2: 28,892,451	L602R	probably damaging	Het
Defb40	T	A	8: 18,975,034	Y52F	probably benign	Het
Dip2a	A	G	10: 76,291,028	V710A	probably benign	Het
Dnah2	T	C	11: 69,516,593	I150V	probably benign	Het
Eln	A	T	5: 134,737,181	L56Q	unknown	Het
Ezh1	T	C	11: 101,194,914	N639S	probably damaging	Het
Fzd3	A	G	14: 65,235,326	F331S	probably damaging	Het
Gbp9	T	C	5: 105,103,879	T68A	possibly damaging	Het
Gltp	A	G	5: 114,674,100	M104T	probably benign	Het
Gm3854	A	C	7: 6,354,166	H326P	probably damaging	Het
Gmps	G	A	3: 63,985,627	V118M	probably damaging	Het
Gpsm1	T	C	2: 26,339,693	L42P	probably damaging	Het
Hsfy2	T	A	1: 56,636,259	H373L	probably benign	Het
Ica1l	A	T	1: 60,015,794	F93I	possibly damaging	Het
Idh1	A	G	1: 65,165,118	S278P	probably damaging	Het
Ighmbp2	C	T	19: 3,267,276	G532D	possibly damaging	Het
Ikbkb	A	G	8: 22,671,726	L382S	probably benign	Het
Il1rap	T	A	16: 26,722,401	M464K	possibly damaging	Het
Ing2	G	A	8: 47,669,028	R162C	probably damaging	Het
Ints1	A	T	5: 139,760,767	L1275H	probably damaging	Het
Ispd	A	G	12: 36,381,903	T44A	probably benign	Het
Itga1	T	C	13: 115,049,301	E55G	probably damaging	Het
Itih4	T	C	14: 30,901,663	F930L	probably benign	Het
Kcnh8	A	G	17: 52,956,715	T747A	probably benign	Het
Kit	A	G	5: 75,645,932	E699G	probably benign	Het
Lamc3	T	C	2: 31,921,763	S921P	probably benign	Het
Lrrc63	TGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGC	14: 75,125,221		probably benign	Het
Map10	TCAGTTGTCCAG	TCAG	8: 125,670,521		probably null	Het
Mgat3	G	T	15: 80,211,772	E267*	probably null	Het
Npepps	C	A	11: 97,248,269	G159V	probably damaging	Het
Nrap	A	G	19: 56,335,288	V1284A	probably benign	Het
Olfr518	T	A	7: 108,881,403	I68F	probably damaging	Het
Olfr792	A	T	10: 129,540,693	H52L	probably benign	Het
Oxgr1	T	C	14: 120,022,869		probably null	Het
Pcdhb18	T	C	18: 37,491,255	L546P	possibly damaging	Het
Pcdhga5	G	A	18: 37,696,580	V694M	probably damaging	Het
Pde9a	A	T	17: 31,460,200	I255F	possibly damaging	Het
Pi4k2a	G	A	19: 42,090,574	G25R	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ppp1r37	A	G	7: 19,534,064	I302T	probably damaging	Het
Prkar2a	T	A	9: 108,745,545	Y311N	probably damaging	Het
Prkd3	A	T	17: 78,972,501	D254E	probably benign	Het
Prmt9	T	C	8: 77,568,344	V439A	probably benign	Het
Ptpra	T	C	2: 130,504,206	S96P	probably benign	Het
Rnf103	A	G	6: 71,508,930	T182A	probably benign	Het
Rpusd4	A	G	9: 35,267,932	S15G	probably benign	Het
Sco1	A	G	11: 67,058,393	Y229C	probably damaging	Het
Skint5	T	A	4: 113,559,835	Q1139L	unknown	Het
Slc16a12	A	G	19: 34,675,179	V189A	probably damaging	Het
Slfn8	T	G	11: 83,004,255	N575T	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stard9	T	C	2: 120,700,984	L2574P	probably damaging	Het
Syn3	A	T	10: 86,055,540		probably benign	Het
Tspo2	A	T	17: 48,449,957	D32E	probably damaging	Het
Vmn1r72	A	G	7: 11,669,625	F299L	probably benign	Het
Wdr66	A	G	5: 123,254,259		probably benign	Het
Xbp1	G	A	11: 5,524,886	M262I	probably benign	Het
Zfp354b	G	A	11: 50,923,805	Q98*	probably null	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
R7228:Map2k5	UTSW	9	63358022	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CTATCTCCACTGTGCCCAAG -3'
(R):5'- CATGCACAGTGGACGGTAAC -3'

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

Posted On

2019-12-03