Mutagenetix > Incidental Mutation

Incidental Mutation 'R9132:Mapk1'

693739

Institutional Source

Beutler Lab

Gene Symbol

Mapk1

Ensembl Gene

ENSMUSG00000063358

Gene Name

mitogen-activated protein kinase 1

Synonyms

Erk2, 9030612K14Rik, Prkm1, p42mapk, MAPK2

MMRRC Submission

068929-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9132 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16801246-16865317 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 16856300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069107] [ENSMUST00000115731] [ENSMUST00000232067] [ENSMUST00000232611] [ENSMUST00000232611]

AlphaFold

P63085

Predicted Effect

probably benign
Transcript: ENSMUST00000069107

SMART Domains

Protein: ENSMUSP00000065983
Gene: ENSMUSG00000063358

Domain	Start	End	E-Value	Type
S_TKc	23	311	1.06e-95	SMART
low complexity region	330	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115731

SMART Domains

Protein: ENSMUSP00000111396
Gene: ENSMUSG00000063358

Domain	Start	End	E-Value	Type
S_TKc	23	311	1.06e-95	SMART
low complexity region	330	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231821

Predicted Effect

probably benign
Transcript: ENSMUST00000232067

Predicted Effect

probably null
Transcript: ENSMUST00000232611

Predicted Effect

probably null
Transcript: ENSMUST00000232611

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), 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. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutant embryos implant in the uterus, but die shortly thereafter failing to form extraembryonic tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AC133488.1	A	T	16: 18,440,075 (GRCm39)	V363E	probably benign	Het
Adamts16	A	G	13: 70,901,408 (GRCm39)	S890P	probably benign	Het
Amd1	A	G	10: 40,169,158 (GRCm39)		probably null	Het
Apcs	A	G	1: 172,722,061 (GRCm39)	I95T	probably damaging	Het
Arhgap18	A	G	10: 26,730,886 (GRCm39)	D188G	probably benign	Het
Arhgap42	C	T	9: 9,011,419 (GRCm39)	V456M	probably damaging	Het
Atp2a2	T	C	5: 122,599,633 (GRCm39)	Y586C	probably damaging	Het
Cbr1	G	C	16: 93,406,794 (GRCm39)	G170A	probably benign	Het
Cdh23	T	A	10: 60,270,283 (GRCm39)		probably benign	Het
Cfap53	T	A	18: 74,416,272 (GRCm39)	Y2N	probably damaging	Het
Clcn3	A	G	8: 61,382,136 (GRCm39)	I511T	probably damaging	Het
Col28a1	T	A	6: 8,014,993 (GRCm39)	D804V	probably damaging	Het
Csmd2	A	G	4: 128,443,007 (GRCm39)	T3253A		Het
Csta3	G	A	16: 36,038,069 (GRCm39)	V69I	probably benign	Het
Cyp2c40	A	T	19: 39,762,317 (GRCm39)	D443E	probably damaging	Het
Cyp7b1	A	G	3: 18,151,476 (GRCm39)	C246R	probably benign	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnai4	A	G	4: 102,916,930 (GRCm39)	M592T	probably damaging	Het
Dpyd	T	A	3: 118,710,897 (GRCm39)	I435N	probably damaging	Het
Fat2	A	T	11: 55,189,436 (GRCm39)	L1194Q	possibly damaging	Het
Firrm	A	G	1: 163,814,514 (GRCm39)	I143T	probably damaging	Het
Gabrg1	A	T	5: 70,939,622 (GRCm39)	I170N	possibly damaging	Het
Gon4l	C	T	3: 88,815,484 (GRCm39)	P2016S	probably benign	Het
Hax1	T	C	3: 89,903,127 (GRCm39)	R251G	probably damaging	Het
Hbq1b	A	T	11: 32,237,228 (GRCm39)	K41*	probably null	Het
Ido2	G	A	8: 25,023,933 (GRCm39)	P302S	probably damaging	Het
Igf2bp2	G	A	16: 21,900,502 (GRCm39)	T213I	probably damaging	Het
Itga2	A	T	13: 115,014,298 (GRCm39)	L210*	probably null	Het
Kdm1b	G	A	13: 47,225,458 (GRCm39)	S547N	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Lyz2	A	T	10: 117,116,562 (GRCm39)	C95*	probably null	Het
Mafa	A	T	15: 75,619,048 (GRCm39)	S242T	possibly damaging	Het
Mta1	T	A	12: 113,100,025 (GRCm39)	V645E	probably damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Naa35	T	C	13: 59,772,341 (GRCm39)	I438T	possibly damaging	Het
Necab2	T	C	8: 120,189,303 (GRCm39)	Y158H	probably damaging	Het
Nphp3	T	A	9: 103,897,980 (GRCm39)	L523Q	probably damaging	Het
Ogdh	A	T	11: 6,290,488 (GRCm39)	I369F	probably benign	Het
Pglyrp4	C	T	3: 90,635,238 (GRCm39)	Q28*	probably null	Het
Pla2g4a	C	T	1: 149,747,230 (GRCm39)	V319I	probably benign	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Prdm6	C	A	18: 53,598,019 (GRCm39)	A127D	unknown	Het
Prop1	T	G	11: 50,843,037 (GRCm39)	E50A		Het
Ripk1	A	G	13: 34,212,184 (GRCm39)	N498S	probably benign	Het
Rnf213	A	G	11: 119,374,742 (GRCm39)	N5069S		Het
Saa3	T	C	7: 46,362,121 (GRCm39)	D41G	probably damaging	Het
Setd2	T	C	9: 110,374,385 (GRCm39)		probably null	Het
Shbg	G	A	11: 69,506,430 (GRCm39)	L327F	probably benign	Het
Slc12a5	G	A	2: 164,835,876 (GRCm39)		probably benign	Het
Slc1a4	C	T	11: 20,258,527 (GRCm39)	G304D	probably damaging	Het
Slf1	T	C	13: 77,249,073 (GRCm39)	K372E	probably benign	Het
Smad2	T	A	18: 76,395,573 (GRCm39)	I4N	possibly damaging	Het
Smad6	A	C	9: 63,914,870 (GRCm39)	S300A	probably benign	Het
Spata31h1	T	C	10: 82,127,896 (GRCm39)	T1705A	possibly damaging	Het
Spem2	T	A	11: 69,707,414 (GRCm39)		probably benign	Het
Syde1	T	C	10: 78,425,340 (GRCm39)	S224G	probably benign	Het
Tacc1	A	T	8: 25,672,151 (GRCm39)	V359E	possibly damaging	Het
Tex15	T	G	8: 34,067,554 (GRCm39)	V2328G	possibly damaging	Het
Tmem43	A	C	6: 91,459,291 (GRCm39)	D254A	probably benign	Het
Trav6d-3	T	A	14: 52,964,210 (GRCm39)	Y58N	possibly damaging	Het
Trrap	A	G	5: 144,726,362 (GRCm39)	E437G	probably benign	Het
Wars1	A	G	12: 108,827,199 (GRCm39)	F474L	probably benign	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp541	T	A	7: 15,816,966 (GRCm39)	V918D	probably benign	Het
Zfp747	T	C	7: 126,974,922 (GRCm39)	D26G	probably damaging	Het

Other mutations in Mapk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Mapk1	APN	16	16,853,322 (GRCm39)	missense	probably benign	0.00
IGL01486:Mapk1	APN	16	16,836,144 (GRCm39)	splice site	probably benign
IGL01764:Mapk1	APN	16	16,801,597 (GRCm39)	missense	possibly damaging	0.50
IGL02138:Mapk1	APN	16	16,841,316 (GRCm39)	missense	probably benign	0.18
IGL02701:Mapk1	APN	16	16,833,770 (GRCm39)	missense	probably benign	0.00
R0517:Mapk1	UTSW	16	16,833,910 (GRCm39)	missense	probably benign	0.02
R1609:Mapk1	UTSW	16	16,856,170 (GRCm39)	splice site	probably benign
R1862:Mapk1	UTSW	16	16,844,293 (GRCm39)	missense	probably benign	0.36
R2885:Mapk1	UTSW	16	16,844,309 (GRCm39)	missense	probably benign
R4205:Mapk1	UTSW	16	16,856,321 (GRCm39)	intron	probably benign
R4959:Mapk1	UTSW	16	16,836,170 (GRCm39)	missense	probably damaging	1.00
R5694:Mapk1	UTSW	16	16,836,333 (GRCm39)	missense	probably benign	0.02
R6630:Mapk1	UTSW	16	16,844,249 (GRCm39)	missense	probably damaging	1.00
R6809:Mapk1	UTSW	16	16,853,326 (GRCm39)	missense	probably benign	0.09
R8230:Mapk1	UTSW	16	16,843,930 (GRCm39)	missense	noncoding transcript
R9214:Mapk1	UTSW	16	16,853,549 (GRCm39)	missense	probably benign	0.02
R9373:Mapk1	UTSW	16	16,836,154 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACTCCCTTGACCATGACAACTTG -3'
(R):5'- GACCGTCACAGTGTCTAAGG -3'

Sequencing Primer
(F):5'- TTGACCATGACAACTTGCGACTG -3'
(R):5'- TCACAGTGTCTAAGGGCTGC -3'

Posted On

2022-01-20