Mutagenetix > Incidental Mutation

Incidental Mutation 'R8867:Mapk7'

676028

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

068682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61379638-61385101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61384632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 25 (P25T)

Ref Sequence

ENSEMBL: ENSMUSP00000078087 (fasta)

Gene Model

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

AlphaFold

Q9WVS8

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: P25T

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: P25T

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

SMART Domains

Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034

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

SMART Domains

Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,861,087 (GRCm39)	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 192,857,406 (GRCm39)	S253P	probably damaging	Het
Acbd5	T	C	2: 22,970,370 (GRCm39)	M97T	possibly damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ano1	A	G	7: 144,223,397 (GRCm39)	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,463,011 (GRCm39)	N732D	probably benign	Het
Apcs	A	T	1: 172,722,004 (GRCm39)	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,431,886 (GRCm39)		probably benign	Het
Ark2c	T	C	18: 77,563,182 (GRCm39)	E159G	possibly damaging	Het
Asxl3	C	A	18: 22,649,547 (GRCm39)	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,072,491 (GRCm39)	T388A	probably damaging	Het
B3galt9	A	G	2: 34,728,636 (GRCm39)	D145G	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,503 (GRCm39)	I134L	probably damaging	Het
Chd6	G	A	2: 160,862,989 (GRCm39)	A444V	probably benign	Het
Cmbl	C	A	15: 31,582,073 (GRCm39)	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,750,996 (GRCm39)	I262N	probably damaging	Het
Col6a3	C	T	1: 90,715,673 (GRCm39)	R2260H	unknown	Het
Cracr2a	T	A	6: 127,606,736 (GRCm39)	L260*	probably null	Het
Csmd2	A	G	4: 128,451,469 (GRCm39)	Y3409C		Het
Cyp4b1	C	T	4: 115,493,169 (GRCm39)	R225H	possibly damaging	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dnah6	A	G	6: 72,998,131 (GRCm39)	L4097P	probably damaging	Het
Dppa3	G	A	6: 122,605,602 (GRCm39)	R52Q	probably benign	Het
Fbxo31	C	T	8: 122,281,967 (GRCm39)	R311H	probably benign	Het
Fhad1	T	C	4: 141,656,885 (GRCm39)	R90G	probably damaging	Het
Fitm2	A	T	2: 163,311,602 (GRCm39)	W204R	possibly damaging	Het
Gatb	T	A	3: 85,511,716 (GRCm39)	L157H	probably damaging	Het
Gm5111	G	A	6: 48,566,629 (GRCm39)		probably null	Het
Gm7298	A	C	6: 121,748,788 (GRCm39)	I688L	probably benign	Het
Hecw1	T	C	13: 14,422,275 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,857,632 (GRCm39)	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,504,698 (GRCm39)	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,852,382 (GRCm39)	V902A	probably damaging	Het
Klhl38	T	C	15: 58,178,435 (GRCm39)	M512V	probably benign	Het
Klk1b1	A	C	7: 43,619,747 (GRCm39)	N102T	probably damaging	Het
Lama4	T	A	10: 38,923,996 (GRCm39)	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,241,165 (GRCm39)	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 157,867,521 (GRCm39)	D740V	probably damaging	Het
Mcm3ap	C	A	10: 76,306,538 (GRCm39)	A217D	probably benign	Het
Mucl3	A	T	17: 35,948,872 (GRCm39)	F242L	probably benign	Het
Ncaph2	A	G	15: 89,254,605 (GRCm39)	E406G	probably benign	Het
Ncor2	T	C	5: 125,179,739 (GRCm39)	I69V	unknown	Het
Nfatc3	A	G	8: 106,805,640 (GRCm39)	S170G	probably damaging	Het
Nptn	G	A	9: 58,526,264 (GRCm39)	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,430,570 (GRCm39)	K1581N	probably damaging	Het
Or1q1	T	C	2: 36,887,691 (GRCm39)	Y290H	probably damaging	Het
Or2t43	A	G	11: 58,457,562 (GRCm39)	L203P	probably damaging	Het
Or51l4	G	A	7: 103,403,893 (GRCm39)	Q300*	probably null	Het
Or52ab2	T	A	7: 102,970,449 (GRCm39)	L277Q		Het
Or5be3	G	T	2: 86,863,803 (GRCm39)	T254K	probably damaging	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Pdcl	T	C	2: 37,242,348 (GRCm39)	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,283,576 (GRCm39)	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,792,807 (GRCm39)	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,310,079 (GRCm39)	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,596,517 (GRCm39)		probably benign	Het
Prkn	A	G	17: 11,456,448 (GRCm39)	T91A	probably benign	Het
Rgs18	T	A	1: 144,629,698 (GRCm39)	D187V	probably damaging	Het
Ripor2	C	T	13: 24,822,760 (GRCm39)		probably benign	Het
Rpl3l	G	A	17: 24,954,455 (GRCm39)	G172D	probably damaging	Het
Sdf4	A	G	4: 156,093,759 (GRCm39)	T298A	probably damaging	Het
Skic3	C	T	13: 76,279,428 (GRCm39)	S620L	probably damaging	Het
Slc17a3	T	C	13: 24,039,943 (GRCm39)	V327A		Het
Slc4a1ap	T	A	5: 31,708,059 (GRCm39)	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256 (GRCm39)	V324A	probably benign	Het
Syne2	A	G	12: 75,989,620 (GRCm39)	Q1833R	probably damaging	Het
Syt6	A	G	3: 103,534,371 (GRCm39)	N481D	possibly damaging	Het
Tert	T	C	13: 73,776,566 (GRCm39)	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,686 (GRCm39)	D1181E		Het
Tln2	G	A	9: 67,237,832 (GRCm39)	T33I	probably damaging	Het
Top3a	A	G	11: 60,633,481 (GRCm39)	S872P	probably benign	Het
Trim10	T	C	17: 37,181,048 (GRCm39)	L93P	probably benign	Het
Trpc7	C	T	13: 57,008,746 (GRCm39)	S307N	probably benign	Het
Ttn	A	T	2: 76,640,427 (GRCm39)	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,368,271 (GRCm39)	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,530,651 (GRCm39)	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp683	C	T	4: 133,785,995 (GRCm39)	T374I	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
R1866:Mapk7	UTSW	11	61,380,239 (GRCm39)	missense	probably benign	0.27
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
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'- AAGCAGTCCACACATGCTG -3'
(R):5'- GAATCCCAAATTCCCGAGGAG -3'

Sequencing Primer
(F):5'- ACACATGCTGAGCCTCAGG -3'
(R):5'- CAAATTCCCGAGGAGGCGTG -3'

Posted On

2021-07-15