Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Mapk7'

357938

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

042033-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61379638-61385101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 61381669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 32 (C32W)

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

probably damaging
Transcript: ENSMUST00000079080
AA Change: C414W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: C414W

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 damaging
Transcript: ENSMUST00000101085
AA Change: C344W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034
AA Change: C344W

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

possibly damaging
Transcript: ENSMUST00000108714
AA Change: C345W

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034
AA Change: C345W

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

probably damaging
Transcript: ENSMUST00000153441
AA Change: C32W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034
AA Change: C32W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126308

Meta Mutation Damage Score

0.0874

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,280 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	T	3: 59,843,735 (GRCm39)	A143V	probably benign	Het
Accs	T	C	2: 93,671,682 (GRCm39)	E236G	probably damaging	Het
Agrn	C	T	4: 156,257,979 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,374,581 (GRCm39)	C4*	probably null	Het
Amotl2	A	T	9: 102,597,679 (GRCm39)	H146L	probably damaging	Het
Ank1	A	G	8: 23,594,990 (GRCm39)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,403,509 (GRCm39)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,161,614 (GRCm39)	M582K	probably benign	Het
Brca2	T	A	5: 150,483,452 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdk5rap2	A	G	4: 70,156,662 (GRCm39)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,367,379 (GRCm39)	M37L	probably benign	Het
Cenpk	A	T	13: 104,386,020 (GRCm39)	H305L	probably benign	Het
Ces5a	C	A	8: 94,262,305 (GRCm39)	A11S	probably benign	Het
Cfap65	T	C	1: 74,967,520 (GRCm39)	E186G	probably damaging	Het
Cfh	T	A	1: 140,016,546 (GRCm39)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,327,726 (GRCm39)	V961I	probably benign	Het
Cog5	T	A	12: 31,919,405 (GRCm39)		probably null	Het
Col4a4	T	C	1: 82,518,895 (GRCm39)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,652,316 (GRCm39)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,824,809 (GRCm39)	N655S	probably benign	Het
Dnai1	C	G	4: 41,610,269 (GRCm39)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,407,996 (GRCm39)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,194,016 (GRCm39)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,472,135 (GRCm39)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,515,066 (GRCm39)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,512,060 (GRCm39)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,655,794 (GRCm39)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,716,374 (GRCm39)	D71G	probably damaging	Het
Folr2	T	C	7: 101,493,006 (GRCm39)	T6A	possibly damaging	Het
Fry	A	C	5: 150,321,719 (GRCm39)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,320,193 (GRCm39)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,441,676 (GRCm39)	Y85C	probably damaging	Het
Gpld1	A	T	13: 25,163,671 (GRCm39)	Y43F	probably benign	Het
Gpld1	T	A	13: 25,163,675 (GRCm39)	Y44*	probably null	Het
Grid2	A	G	6: 63,885,972 (GRCm39)	T123A	probably benign	Het
Grina	T	C	15: 76,133,442 (GRCm39)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,002,102 (GRCm39)	A659V	probably benign	Het
H2-T10	T	A	17: 36,429,837 (GRCm39)	K319*	probably null	Het
Hey2	A	T	10: 30,710,300 (GRCm39)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,587,178 (GRCm39)	T13I	probably benign	Het
Il1rap	C	A	16: 26,541,532 (GRCm39)	A591E	probably benign	Het
Ildr1	T	C	16: 36,542,383 (GRCm39)	L261P	probably benign	Het
Jak1	A	G	4: 101,031,354 (GRCm39)	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,159,285 (GRCm39)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,361,028 (GRCm39)	T592S	probably benign	Het
Lrrc36	A	G	8: 106,178,776 (GRCm39)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,434,806 (GRCm39)	S29F	probably damaging	Het
Marchf10	C	T	11: 105,255,302 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,031 (GRCm39)	M119K	probably damaging	Het
Mpv17	A	T	5: 31,303,326 (GRCm39)	C59*	probably null	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Myo18b	G	A	5: 113,022,340 (GRCm39)	Q351*	probably null	Het
Myo1a	A	G	10: 127,551,557 (GRCm39)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,360,650 (GRCm39)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,691,938 (GRCm39)	A513E	probably benign	Het
Neb	T	C	2: 52,110,221 (GRCm39)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,652,457 (GRCm39)	Q52L	unknown	Het
Nptx2	G	A	5: 144,483,250 (GRCm39)	S126N	probably benign	Het
Or2a7	G	A	6: 43,150,977 (GRCm39)	S19N	probably benign	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or7g17	A	T	9: 18,768,476 (GRCm39)	H185L	probably benign	Het
Or8b52	A	G	9: 38,577,128 (GRCm39)	V4A	probably benign	Het
Pclo	A	T	5: 14,764,362 (GRCm39)	R4278S	unknown	Het
Pcnx1	T	G	12: 81,997,068 (GRCm39)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,363,970 (GRCm39)	N75K	probably benign	Het
Prpf19	T	G	19: 10,875,154 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,759,533 (GRCm39)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,597,118 (GRCm39)	T226A	probably benign	Het
Rimklb	G	A	6: 122,433,365 (GRCm39)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,574,930 (GRCm39)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,267,519 (GRCm39)	D1035V	probably benign	Het
Rps23rg1	A	T	8: 3,633,922 (GRCm39)	S8C	probably damaging	Het
Scd2	T	A	19: 44,289,791 (GRCm39)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,024,956 (GRCm39)	M84L	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,419,160 (GRCm39)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,359,794 (GRCm39)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,297,492 (GRCm39)		probably benign	Het
Slc4a10	T	A	2: 62,127,332 (GRCm39)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,022,398 (GRCm39)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,302,008 (GRCm39)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,631,883 (GRCm39)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,421,548 (GRCm39)	N594K	probably benign	Het
Spata22	A	T	11: 73,236,582 (GRCm39)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,363,058 (GRCm39)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,583,081 (GRCm39)		probably benign	Het
Strn3	T	A	12: 51,656,999 (GRCm39)	I760L	possibly damaging	Het
Syk	A	T	13: 52,796,022 (GRCm39)	Y539F	probably benign	Het
Tdpoz9-ps1	T	C	3: 93,846,093 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 130,138,001 (GRCm39)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,504,494 (GRCm39)	E42*	probably null	Het
Tom1l1	T	C	11: 90,575,942 (GRCm39)	E30G	probably damaging	Het
Trav10	G	A	14: 53,743,518 (GRCm39)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,878,237 (GRCm39)		probably benign	Het
Tril	T	A	6: 53,795,449 (GRCm39)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,059,087 (GRCm39)	R179*	probably null	Het
Tspoap1	A	T	11: 87,662,489 (GRCm39)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,682,768 (GRCm39)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,065,608 (GRCm39)	I509T	probably benign	Het
Vax2	T	G	6: 83,688,379 (GRCm39)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,150,025 (GRCm39)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,949,566 (GRCm39)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,851 (GRCm39)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,940,431 (GRCm39)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,855,638 (GRCm39)	S264A	probably benign	Het
Zfp330	A	T	8: 83,496,015 (GRCm39)	C75*	probably null	Het
Zfp526	T	A	7: 24,925,064 (GRCm39)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,402,930 (GRCm39)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,240,217 (GRCm39)	F602I	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
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'- TTGAGCAGGGCAGCTTTGAG -3'
(R):5'- CATGACCCTGATGATGAGCCTG -3'

Sequencing Primer
(F):5'- TATTGTCGGAGATGGCACCCTC -3'
(R):5'- ACCCTGATGATGAGCCTGATTGC -3'

Posted On

2015-11-11