Mutagenetix > Incidental Mutation

Incidental Mutation 'R2913:Mapk3'

254754

Institutional Source

Beutler Lab

Gene Symbol

Mapk3

Ensembl Gene

ENSMUSG00000063065

Gene Name

mitogen-activated protein kinase 3

Synonyms

p44 MAP kinase, p44erk1, Erk1, Prkm3, Erk-1, Mtap2k, p44mapk, Esrk1

MMRRC Submission

040500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126358798-126364988 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 126359978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 19 (C19*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]

AlphaFold

Q63844

Predicted Effect

probably null
Transcript: ENSMUST00000050201
AA Change: C83*

SMART Domains

Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065
AA Change: C83*

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
S_TKc	43	331	3.3e-97	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000057669
AA Change: C83*

SMART Domains

Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065
AA Change: C83*

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
S_TKc	43	331	3.3e-97	SMART
Blast:S_TKc	335	372	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000091328

SMART Domains

Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	213	2.5e-24	PFAM
Pfam:Pkinase	1	216	2.2e-58	PFAM
Pfam:APH	17	108	7.6e-7	PFAM
Blast:S_TKc	220	257	4e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145965

Predicted Effect

probably null
Transcript: ENSMUST00000205657
AA Change: C81*

Predicted Effect

probably null
Transcript: ENSMUST00000206272
AA Change: C19*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206875

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (58/58)

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, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are hyperactive with impaired T cell maturation and proliferation. Mice homozygous for a knock-out allele on a CD-1 background exhibit normal Mendelian ratios, growth, and no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,934,887 (GRCm39)	Q357R	probably damaging	Het
Adap1	C	T	5: 139,260,576 (GRCm39)		probably null	Het
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Aldh3b1	T	C	19: 3,971,275 (GRCm39)		probably benign	Het
Arih2	A	G	9: 108,521,275 (GRCm39)	S68P	probably damaging	Het
Cdcp3	T	C	7: 130,783,753 (GRCm39)	S49P	possibly damaging	Het
Col1a2	C	T	6: 4,519,923 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,300,169 (GRCm39)	S3159P	unknown	Het
Crocc	C	T	4: 140,747,661 (GRCm39)	R1496H	probably damaging	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Cyp11b1	T	C	15: 74,708,270 (GRCm39)	T402A	probably damaging	Het
Etfa	C	A	9: 55,389,613 (GRCm39)	A254S	probably damaging	Het
Fcgbpl1	A	T	7: 27,863,732 (GRCm39)	L2501F	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hbb-bh1	C	T	7: 103,492,254 (GRCm39)	E22K	possibly damaging	Het
Hmcn2	A	G	2: 31,350,222 (GRCm39)	T5040A	possibly damaging	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Igsf10	T	A	3: 59,239,157 (GRCm39)	L341F	possibly damaging	Het
Ints1	A	G	5: 139,743,668 (GRCm39)	S1592P	possibly damaging	Het
Itgam	T	C	7: 127,711,578 (GRCm39)	I641T	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Med26	T	G	8: 73,249,956 (GRCm39)	K381T	possibly damaging	Het
Mki67	T	C	7: 135,302,415 (GRCm39)	E873G	possibly damaging	Het
Mrgpra9	T	C	7: 46,884,828 (GRCm39)	I280V	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Or4c11	A	T	2: 88,695,458 (GRCm39)	N170Y	probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Pam	A	C	1: 97,850,854 (GRCm39)	L168R	probably damaging	Het
Pikfyve	G	A	1: 65,292,676 (GRCm39)	V1376M	probably damaging	Het
Pomt2	A	T	12: 87,175,743 (GRCm39)	N400K	probably damaging	Het
Pramel13	T	C	4: 144,119,304 (GRCm39)	E421G	probably damaging	Het
Rbm45	C	T	2: 76,205,798 (GRCm39)	P217S	probably benign	Het
Rc3h2	A	G	2: 37,268,971 (GRCm39)	S832P	possibly damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Rrh	G	T	3: 129,609,258 (GRCm39)	A83E	probably damaging	Het
Rspo2	T	A	15: 42,941,510 (GRCm39)	T138S	probably benign	Het
Skint5	A	G	4: 113,381,289 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Spata31d1d	T	C	13: 59,874,769 (GRCm39)	E922G	possibly damaging	Het
Spc25	T	C	2: 69,030,331 (GRCm39)	H104R	probably benign	Het
Sptssa	A	T	12: 54,703,267 (GRCm39)	M1K	probably null	Het
Srrm2	G	T	17: 24,034,658 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmem181c-ps	A	G	17: 6,888,608 (GRCm39)		noncoding transcript	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Trio	T	A	15: 27,854,998 (GRCm39)	Q728L	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Vwf	T	A	6: 125,662,809 (GRCm39)	V2731E	probably benign	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	probably benign	Het
Zgrf1	T	C	3: 127,392,356 (GRCm39)	V1292A	possibly damaging	Het

Other mutations in Mapk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Mapk3	APN	7	126,363,946 (GRCm39)	nonsense	probably null
IGL02412:Mapk3	APN	7	126,362,210 (GRCm39)	nonsense	probably null
wabasha	UTSW	7	126,362,684 (GRCm39)	nonsense	probably null
R0078:Mapk3	UTSW	7	126,358,977 (GRCm39)	missense	probably damaging	1.00
R0532:Mapk3	UTSW	7	126,362,558 (GRCm39)	intron	probably benign
R1549:Mapk3	UTSW	7	126,362,684 (GRCm39)	nonsense	probably null
R5220:Mapk3	UTSW	7	126,363,408 (GRCm39)	missense	probably benign
R5408:Mapk3	UTSW	7	126,363,007 (GRCm39)	missense	probably damaging	1.00
R5729:Mapk3	UTSW	7	126,363,979 (GRCm39)	missense	probably benign	0.01
R5929:Mapk3	UTSW	7	126,359,030 (GRCm39)	unclassified	probably benign
R6307:Mapk3	UTSW	7	126,363,454 (GRCm39)	missense	probably benign	0.03
R6359:Mapk3	UTSW	7	126,359,928 (GRCm39)	missense	probably benign
R7356:Mapk3	UTSW	7	126,360,087 (GRCm39)	critical splice donor site	probably null
R7380:Mapk3	UTSW	7	126,363,967 (GRCm39)	missense
R7384:Mapk3	UTSW	7	126,363,463 (GRCm39)	missense
R8177:Mapk3	UTSW	7	126,362,937 (GRCm39)	missense	probably null
R9296:Mapk3	UTSW	7	126,363,518 (GRCm39)	missense
R9362:Mapk3	UTSW	7	126,363,444 (GRCm39)	missense
X0017:Mapk3	UTSW	7	126,363,420 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGCCAGAACCCTCTCC -3'
(R):5'- GTGCTCTCATGCTCTGTAGAC -3'

Sequencing Primer
(F):5'- GCCAGAACCCTCTCCTCCTC -3'
(R):5'- TGTCTCGGATGCCTATAAC -3'

Posted On

2014-12-29