Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:Mapkapk3'

323499

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk3

Ensembl Gene

ENSMUSG00000032577

Gene Name

mitogen-activated protein kinase-activated protein kinase 3

Synonyms

MK3

MMRRC Submission

041087-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107132126-107167076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107134648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 296 (T296M)

Ref Sequence

ENSEMBL: ENSMUSP00000035194 (fasta)

Gene Model

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

AlphaFold

Q3UMW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000035194
AA Change: T296M

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

SMART Domains

Protein: ENSMUSP00000035194
Gene: ENSMUSG00000032577
AA Change: T296M

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

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Akna	A	T	4: 63,316,269 (GRCm39)	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,470,721 (GRCm39)	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,211,462 (GRCm39)	Y47*	probably null	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
C4b	T	C	17: 34,950,118 (GRCm39)	D1384G	possibly damaging	Het
Cbfa2t2	G	A	2: 154,365,848 (GRCm39)	V353I	probably damaging	Het
Ccdc121	A	G	5: 31,644,870 (GRCm39)	R208G	possibly damaging	Het
Cdh20	T	C	1: 109,988,731 (GRCm39)	I211T	probably damaging	Het
Cep170b	T	C	12: 112,705,739 (GRCm39)	S1166P	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	G	A	16: 22,624,161 (GRCm39)	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,172,372 (GRCm39)	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,510,487 (GRCm39)	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,896,989 (GRCm39)	T3645A	probably damaging	Het
Dnai3	C	T	3: 145,774,561 (GRCm39)	D429N	probably damaging	Het
Dolk	A	T	2: 30,175,200 (GRCm39)	W282R	probably damaging	Het
Dsg2	T	A	18: 20,729,008 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,045,059 (GRCm39)	T297A	possibly damaging	Het
Flt1	G	T	5: 147,620,717 (GRCm39)	D142E	probably benign	Het
Frmd4a	C	A	2: 4,337,882 (GRCm39)	N29K	probably benign	Het
Fxyd7	A	T	7: 30,744,407 (GRCm39)	M36K	probably benign	Het
Gabbr1	C	T	17: 37,366,792 (GRCm39)	R178*	probably null	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 86,344,313 (GRCm39)	I194N	probably damaging	Het
Kics2	C	A	10: 121,581,351 (GRCm39)	H117Q	probably benign	Het
Klhl24	T	C	16: 19,925,754 (GRCm39)	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,669,912 (GRCm39)	I133N	probably damaging	Het
Macf1	A	G	4: 123,293,199 (GRCm39)	I5381T	probably damaging	Het
Madd	A	G	2: 91,000,148 (GRCm39)	L197P	probably damaging	Het
Micall2	T	C	5: 139,695,226 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,654,164 (GRCm39)	T1214A	probably benign	Het
Ncapd3	A	G	9: 26,963,623 (GRCm39)	N492S	probably benign	Het
Neurl4	A	C	11: 69,799,887 (GRCm39)	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,407,943 (GRCm39)		probably null	Het
Or13a20	T	C	7: 140,232,156 (GRCm39)	V88A	probably benign	Het
Or1e21	A	T	11: 73,344,827 (GRCm39)	D70E	probably damaging	Het
Or52z1	T	A	7: 103,437,202 (GRCm39)	H94L	probably benign	Het
Or5j3	A	T	2: 86,128,585 (GRCm39)	I142F	possibly damaging	Het
Or6k8-ps1	T	A	1: 173,979,878 (GRCm39)	Y265*	probably null	Het
Or8b42	T	G	9: 38,342,108 (GRCm39)	Y177D	probably damaging	Het
Or8d1b	T	A	9: 38,887,055 (GRCm39)	F28I	probably damaging	Het
Or8g19	T	C	9: 39,056,295 (GRCm39)	S300P	probably benign	Het
Patj	C	A	4: 98,565,558 (GRCm39)	N1090K	possibly damaging	Het
Pde8a	A	G	7: 80,977,783 (GRCm39)	D692G	probably benign	Het
Ppa2	G	T	3: 133,073,603 (GRCm39)	K220N	probably damaging	Het
Pramel32	T	C	4: 88,546,419 (GRCm39)	K137E	probably damaging	Het
Ptgr3	A	T	18: 84,112,626 (GRCm39)	I101F	possibly damaging	Het
Rad54b	A	G	4: 11,597,865 (GRCm39)	H250R	probably damaging	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,531,566 (GRCm39)	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 59,130,972 (GRCm39)		noncoding transcript	Het
Scn11a	T	G	9: 119,594,572 (GRCm39)	I1274L	probably damaging	Het
Sco1	A	T	11: 66,946,626 (GRCm39)	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,694,521 (GRCm39)		probably null	Het
Smc2	C	T	4: 52,440,238 (GRCm39)		probably benign	Het
Spata18	T	C	5: 73,824,245 (GRCm39)	I156T	probably benign	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stt3a	A	G	9: 36,674,640 (GRCm39)	F48L	probably damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Telo2	A	T	17: 25,334,230 (GRCm39)	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,115,491 (GRCm39)	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Vmn1r234	A	T	17: 21,449,283 (GRCm39)	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Wdfy2	T	A	14: 63,162,589 (GRCm39)	L97*	probably null	Het
Xrcc5	T	C	1: 72,433,879 (GRCm39)	*733Q	probably null	Het
Zfp1004	G	A	2: 150,032,653 (GRCm39)	D17N	probably damaging	Het
Zfp516	G	A	18: 83,005,622 (GRCm39)	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,062,444 (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
R4293:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4294:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
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'- GCCTAGAACTCTGTGGAACAGC -3'
(R):5'- GCTCAAACAATTCGGCCTTG -3'

Sequencing Primer
(F):5'- CCTAGAACTCTGTGGAACAGCATATG -3'
(R):5'- CTGAGTACTTAGTGACCTTCAACGAG -3'

Posted On

2015-06-20