Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Mapk7'

208754

Institutional Source

Beutler Lab

Gene Symbol

Mapk7

Ensembl Gene

ENSMUSG00000001034

Gene Name

mitogen-activated protein kinase 7

Synonyms

BMK1, big MAP kinase 1, ERK5, b2b2346Clo, Erk5-T

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61379638-61385101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61380239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 671 (F671L)

Ref Sequence

ENSEMBL: ENSMUSP00000104354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040522] [ENSMUST00000064783] [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]

AlphaFold

Q9WVS8

Predicted Effect

probably benign
Transcript: ENSMUST00000040522

SMART Domains

Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FBG	38	280	5.6e-119	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064783

SMART Domains

Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FBG	38	257	3.39e-130	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079080
AA Change: F740L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: F740L

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
S_TKc	55	347	5.66e-96	SMART
low complexity region	433	447	N/A	INTRINSIC
low complexity region	476	492	N/A	INTRINSIC
coiled coil region	508	544	N/A	INTRINSIC
low complexity region	578	603	N/A	INTRINSIC
low complexity region	620	644	N/A	INTRINSIC
low complexity region	675	692	N/A	INTRINSIC
low complexity region	758	772	N/A	INTRINSIC
low complexity region	791	803	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101085
AA Change: F637L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034
AA Change: F637L

Domain	Start	End	E-Value	Type
S_TKc	4	277	3.48e-73	SMART
low complexity region	363	377	N/A	INTRINSIC
coiled coil region	405	441	N/A	INTRINSIC
low complexity region	475	500	N/A	INTRINSIC
low complexity region	517	541	N/A	INTRINSIC
low complexity region	572	589	N/A	INTRINSIC
low complexity region	655	669	N/A	INTRINSIC
low complexity region	688	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108714
AA Change: F671L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034
AA Change: F671L

Domain	Start	End	E-Value	Type
S_TKc	1	278	1.76e-74	SMART
low complexity region	364	378	N/A	INTRINSIC
low complexity region	407	423	N/A	INTRINSIC
coiled coil region	439	475	N/A	INTRINSIC
low complexity region	509	534	N/A	INTRINSIC
low complexity region	551	575	N/A	INTRINSIC
low complexity region	606	623	N/A	INTRINSIC
low complexity region	689	703	N/A	INTRINSIC
low complexity region	722	734	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139932

Predicted Effect

probably benign
Transcript: ENSMUST00000153441

SMART Domains

Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034

Domain	Start	End	E-Value	Type
PDB:4IC8\|B	1	49	2e-26	PDB
low complexity region	51	65	N/A	INTRINSIC
low complexity region	94	110	N/A	INTRINSIC
coiled coil region	126	162	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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 member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation and midgestational lethality due to multiple developmental anomalies and vascular remodelling, cardiac development, and placental defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,077,225 (GRCm39)	Q661K	probably benign	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mau2	A	G	8: 70,484,142 (GRCm39)	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pcx	T	C	19: 4,671,249 (GRCm39)	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Prom2	T	C	2: 127,378,514 (GRCm39)	D460G	probably damaging	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,839,157 (GRCm39)	E858D	probably benign	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zc3h7a	A	G	16: 10,965,168 (GRCm39)	I655T	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	probably damaging	Het

Other mutations in Mapk7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Mapk7	APN	11	61,381,986 (GRCm39)	missense	probably damaging	1.00
IGL02289:Mapk7	APN	11	61,380,785 (GRCm39)	splice site	probably null
IGL03108:Mapk7	APN	11	61,382,498 (GRCm39)	missense	probably damaging	1.00
IGL03342:Mapk7	APN	11	61,382,216 (GRCm39)	missense	probably damaging	1.00
FR4340:Mapk7	UTSW	11	61,381,032 (GRCm39)	intron	probably benign
FR4589:Mapk7	UTSW	11	61,381,048 (GRCm39)	intron	probably benign
R1497:Mapk7	UTSW	11	61,384,689 (GRCm39)	missense	possibly damaging	0.53
R2870:Mapk7	UTSW	11	61,381,038 (GRCm39)	intron	probably benign
R2871:Mapk7	UTSW	11	61,381,038 (GRCm39)	intron	probably benign
R2872:Mapk7	UTSW	11	61,381,038 (GRCm39)	intron	probably benign
R3831:Mapk7	UTSW	11	61,380,680 (GRCm39)	missense	possibly damaging	0.83
R3832:Mapk7	UTSW	11	61,380,680 (GRCm39)	missense	possibly damaging	0.83
R3833:Mapk7	UTSW	11	61,380,680 (GRCm39)	missense	possibly damaging	0.83
R4378:Mapk7	UTSW	11	61,384,493 (GRCm39)	missense	probably damaging	1.00
R4428:Mapk7	UTSW	11	61,380,055 (GRCm39)	missense	possibly damaging	0.90
R4642:Mapk7	UTSW	11	61,381,727 (GRCm39)	missense	probably damaging	0.99
R4692:Mapk7	UTSW	11	61,380,068 (GRCm39)	missense	possibly damaging	0.73
R4718:Mapk7	UTSW	11	61,380,080 (GRCm39)	missense	possibly damaging	0.73
R4755:Mapk7	UTSW	11	61,381,669 (GRCm39)	missense	probably damaging	1.00
R4916:Mapk7	UTSW	11	61,384,475 (GRCm39)	missense	probably damaging	0.97
R4933:Mapk7	UTSW	11	61,384,734 (GRCm39)	unclassified	probably benign
R5825:Mapk7	UTSW	11	61,381,207 (GRCm39)	missense	possibly damaging	0.66
R5875:Mapk7	UTSW	11	61,384,524 (GRCm39)	missense	probably benign	0.13
R5910:Mapk7	UTSW	11	61,384,447 (GRCm39)	start codon destroyed	probably benign	0.01
R7201:Mapk7	UTSW	11	61,379,998 (GRCm39)	missense	probably benign	0.33
R7465:Mapk7	UTSW	11	61,381,279 (GRCm39)	missense	probably damaging	1.00
R7797:Mapk7	UTSW	11	61,380,241 (GRCm39)	missense	possibly damaging	0.72
R8867:Mapk7	UTSW	11	61,384,632 (GRCm39)	missense	probably benign	0.41
R8953:Mapk7	UTSW	11	61,383,792 (GRCm39)	missense	possibly damaging	0.81
R9243:Mapk7	UTSW	11	61,384,535 (GRCm39)	missense	possibly damaging	0.94
R9394:Mapk7	UTSW	11	61,381,858 (GRCm39)	missense	probably damaging	1.00
R9671:Mapk7	UTSW	11	61,382,498 (GRCm39)	missense	probably damaging	1.00
RF031:Mapk7	UTSW	11	61,381,060 (GRCm39)	intron	probably benign
Z1177:Mapk7	UTSW	11	61,382,188 (GRCm39)	missense	probably damaging	1.00
Z1186:Mapk7	UTSW	11	61,381,053 (GRCm39)	intron	probably benign
Z1186:Mapk7	UTSW	11	61,381,042 (GRCm39)	intron	probably benign
Z1186:Mapk7	UTSW	11	61,381,038 (GRCm39)	intron	probably benign
Z1187:Mapk7	UTSW	11	61,381,053 (GRCm39)	intron	probably benign
Z1187:Mapk7	UTSW	11	61,381,038 (GRCm39)	intron	probably benign
Z1188:Mapk7	UTSW	11	61,381,070 (GRCm39)	intron	probably benign
Z1188:Mapk7	UTSW	11	61,381,053 (GRCm39)	intron	probably benign
Z1188:Mapk7	UTSW	11	61,381,038 (GRCm39)	intron	probably benign
Z1189:Mapk7	UTSW	11	61,381,053 (GRCm39)	intron	probably benign
Z1190:Mapk7	UTSW	11	61,381,053 (GRCm39)	intron	probably benign
Z1191:Mapk7	UTSW	11	61,381,053 (GRCm39)	intron	probably benign
Z1191:Mapk7	UTSW	11	61,381,038 (GRCm39)	intron	probably benign
Z1192:Mapk7	UTSW	11	61,381,053 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAATGTCAGCAGGGTTCATG -3'
(R):5'- ATCTGGGTAGAGTCGTCAGG -3'

Sequencing Primer
(F):5'- TCAGCAGGGTTCATGCCATG -3'
(R):5'- TCTGGGTAGAGTCGTCAGGAATAG -3'

Posted On

2014-06-30