Mutagenetix > Incidental Mutation

Incidental Mutation 'R4293:Mapkapk3'

323175

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk3

Ensembl Gene

ENSMUSG00000032577

Gene Name

mitogen-activated protein kinase-activated protein kinase 3

Synonyms

MK3

MMRRC Submission

041082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4293 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

107132126-107167076 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 107136131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035194] [ENSMUST00000134682] [ENSMUST00000192054]

AlphaFold

Q3UMW7

Predicted Effect

probably benign
Transcript: ENSMUST00000035194

SMART Domains

Protein: ENSMUSP00000035194
Gene: ENSMUSG00000032577

Domain	Start	End	E-Value	Type
low complexity region	10	32	N/A	INTRINSIC
S_TKc	45	306	4.97e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128175

Predicted Effect

probably benign
Transcript: ENSMUST00000134682

SMART Domains

Protein: ENSMUSP00000120848
Gene: ENSMUSG00000032577

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155860

Predicted Effect

probably benign
Transcript: ENSMUST00000192054

SMART Domains

Protein: ENSMUSP00000141342
Gene: ENSMUSG00000032577

Domain	Start	End	E-Value	Type
low complexity region	10	32	N/A	INTRINSIC
Pfam:Pkinase	46	264	6.3e-48	PFAM
Pfam:Pkinase_Tyr	47	259	1.1e-27	PFAM
Pfam:Kdo	80	202	1.1e-8	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (60/61)

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 Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display normal tissue morphology, behavior, and LPS-induced production of cytokines. Eyes of homozygous null mice show defects in Bruch's membrane, with disorganized architecture and variability in thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	C	19: 4,915,468 (GRCm39)	E428G	probably benign	Het
Arfgef2	T	C	2: 166,732,211 (GRCm39)	I1600T	probably benign	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Asgr2	C	A	11: 69,989,057 (GRCm39)	T167K	probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bms1	T	C	6: 118,382,308 (GRCm39)		probably null	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cdca2	T	C	14: 67,952,299 (GRCm39)	D24G	probably benign	Het
Celsr2	T	C	3: 108,300,993 (GRCm39)	R2767G	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Ddx18	T	C	1: 121,489,121 (GRCm39)	T309A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,039,720 (GRCm39)	L713P	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fnbp1	A	G	2: 30,995,362 (GRCm39)	F24S	probably damaging	Het
Gm16686	A	T	4: 88,673,710 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,898,040 (GRCm39)	M275V	probably damaging	Het
Igdcc4	A	G	9: 65,031,892 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Mettl18	A	G	1: 163,824,171 (GRCm39)	D164G	probably damaging	Het
Myo5a	A	T	9: 75,051,453 (GRCm39)	T349S	probably benign	Het
Or1ad6	T	C	11: 50,860,253 (GRCm39)	M136T	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pik3c3	G	A	18: 30,477,043 (GRCm39)	A855T	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Rev1	A	T	1: 38,147,500 (GRCm39)	D13E	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc4a5	C	T	6: 83,237,511 (GRCm39)	R165C	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,260 (GRCm39)		noncoding transcript	Het
Slfn9	T	C	11: 82,873,334 (GRCm39)	N523S	probably benign	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,848,693 (GRCm39)	T49A	probably damaging	Het
Tep1	T	C	14: 51,084,318 (GRCm39)	I954V	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	Het
Xpr1	A	G	1: 155,188,542 (GRCm39)	F366S	possibly damaging	Het
Zfp317	A	G	9: 19,557,990 (GRCm39)		probably null	Het

Other mutations in Mapkapk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:Mapkapk3	APN	9	107,139,621 (GRCm39)	critical splice donor site	probably null
IGL02486:Mapkapk3	APN	9	107,166,467 (GRCm39)	missense	probably damaging	1.00
IGL02971:Mapkapk3	APN	9	107,134,279 (GRCm39)	missense	probably benign	0.00
R1523:Mapkapk3	UTSW	9	107,140,822 (GRCm39)	critical splice donor site	probably null
R4106:Mapkapk3	UTSW	9	107,134,265 (GRCm39)	missense	probably damaging	0.99
R4290:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4291:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4294:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4299:Mapkapk3	UTSW	9	107,134,648 (GRCm39)	missense	probably damaging	1.00
R5433:Mapkapk3	UTSW	9	107,133,491 (GRCm39)	missense	probably damaging	0.96
R5936:Mapkapk3	UTSW	9	107,166,369 (GRCm39)	missense	probably damaging	0.96
R6029:Mapkapk3	UTSW	9	107,166,425 (GRCm39)	missense	possibly damaging	0.86
R6228:Mapkapk3	UTSW	9	107,137,262 (GRCm39)	missense	probably damaging	1.00
R6520:Mapkapk3	UTSW	9	107,134,648 (GRCm39)	missense	probably damaging	1.00
R7011:Mapkapk3	UTSW	9	107,166,595 (GRCm39)	unclassified	probably benign
R7352:Mapkapk3	UTSW	9	107,134,269 (GRCm39)	missense	possibly damaging	0.83
R9106:Mapkapk3	UTSW	9	107,136,067 (GRCm39)	missense	probably damaging	0.97
R9227:Mapkapk3	UTSW	9	107,137,354 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGTTTCAAGGCCTGTATC -3'
(R):5'- GGGGTTTGTCTGAAAGCAGC -3'

Sequencing Primer
(F):5'- CAGTTTCAAGGCCTGTATCTAACAAC -3'
(R):5'- TCACACACATGCTGCCT -3'

Posted On

2015-06-20