Mutagenetix > Incidental Mutation

Incidental Mutation 'R4291:Mapkapk3'

323067

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk3

Ensembl Gene

ENSMUSG00000032577

Gene Name

mitogen-activated protein kinase-activated protein kinase 3

Synonyms

MK3

MMRRC Submission

041081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4291 (G1)

Quality Score

225

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: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,120,337 (GRCm39)	F27S	probably benign	Het
AK157302	T	A	13: 21,679,715 (GRCm39)	D80E	probably damaging	Het
Amz2	T	C	11: 109,324,881 (GRCm39)		probably null	Het
Angel1	A	G	12: 86,767,057 (GRCm39)	Y440H	probably damaging	Het
Ankrd34c	T	A	9: 89,611,817 (GRCm39)	K175*	probably null	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Brpf3	G	A	17: 29,042,949 (GRCm39)	V997M	probably benign	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cd96	T	A	16: 45,892,112 (GRCm39)	Q292L	probably damaging	Het
Cdh18	C	A	15: 22,714,637 (GRCm39)		probably benign	Het
Cfb	T	G	17: 35,080,114 (GRCm39)	D122A	possibly damaging	Het
Copa	G	T	1: 171,919,964 (GRCm39)		probably benign	Het
Ctnna2	T	A	6: 76,859,728 (GRCm39)	K854N	probably damaging	Het
Cwh43	G	A	5: 73,569,275 (GRCm39)	V106M	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Dnah8	T	C	17: 30,967,533 (GRCm39)	S2582P	probably benign	Het
Eef2	A	G	10: 81,015,414 (GRCm39)	T312A	probably benign	Het
Enpep	T	A	3: 129,063,966 (GRCm39)	R934*	probably null	Het
Fam240b	A	T	13: 64,629,627 (GRCm39)	M63K	possibly damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gsn	G	A	2: 35,180,432 (GRCm39)	V147I	probably benign	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hectd3	A	G	4: 116,852,889 (GRCm39)	E97G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Krba1	C	T	6: 48,392,599 (GRCm39)	P802S	possibly damaging	Het
Lca5l	C	T	16: 95,979,974 (GRCm39)	S52N	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Map3k4	G	T	17: 12,474,147 (GRCm39)	Q845K	probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mcm9	C	A	10: 53,423,668 (GRCm39)	M677I	probably benign	Het
Mkrn2	A	G	6: 115,594,395 (GRCm39)	T369A	possibly damaging	Het
Mthfr	C	A	4: 148,139,949 (GRCm39)	N623K	probably damaging	Het
Myh2	T	C	11: 67,071,985 (GRCm39)	V571A	probably benign	Het
Nom1	G	A	5: 29,651,370 (GRCm39)		probably null	Het
Nucb1	T	A	7: 45,144,704 (GRCm39)	D283V	probably damaging	Het
Or12e8	G	A	2: 87,188,419 (GRCm39)	M210I	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Pcdhb1	A	C	18: 37,398,470 (GRCm39)	L140F	probably damaging	Het
Ptgs2	G	A	1: 149,976,002 (GRCm39)	A10T	probably benign	Het
Rfx3	C	T	19: 27,777,632 (GRCm39)	R497Q	probably damaging	Het
Rps6kb1	A	T	11: 86,410,702 (GRCm39)		probably benign	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Tet3	T	C	6: 83,350,181 (GRCm39)	T961A	probably damaging	Het
Ttc27	T	C	17: 75,163,474 (GRCm39)	L694P	probably damaging	Het
Vmn1r238	G	A	18: 3,123,214 (GRCm39)	Q67*	probably null	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwf	A	T	6: 125,619,285 (GRCm39)	Y1321F	probably damaging	Het
Wfdc1	C	A	8: 120,406,194 (GRCm39)	P103Q	probably damaging	Het
Zfp488	C	A	14: 33,692,851 (GRCm39)	C104F	possibly damaging	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
R4293: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'- AGCCTTGACATGAGGAAGCC -3'
(R):5'- GGGGTTTGTCTGAAAGCAGC -3'

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

Posted On

2015-06-20