Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Mapk7'

475563

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

040458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61379638-61385101 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 61381038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116084 (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

silent
Transcript: ENSMUST00000079080

SMART Domains

Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034

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

silent
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

silent
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

noncoding transcript
Transcript: ENSMUST00000123360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139663

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: ENSMUST00000139932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135521

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,599,058 (GRCm39)		silent	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Otx1	A	G	11: 21,948,681 (GRCm39)		probably benign	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pold1	C	T	7: 44,192,771 (GRCm39)		silent	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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

Posted On

2017-05-11