Mutagenetix > Incidental Mutation

Incidental Mutation 'R1523:Mapkapk3'

167645

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk3

Ensembl Gene

ENSMUSG00000032577

Gene Name

mitogen-activated protein kinase-activated protein kinase 3

Synonyms

MK3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1523 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

107132126-107167076 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 107140822 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 null
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

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 null
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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
4930503B20Rik	A	G	3: 146,356,864 (GRCm39)	S15P	probably damaging	Het
5530400C23Rik	A	G	6: 133,271,256 (GRCm39)	E100G	possibly damaging	Het
Abcg2	T	C	6: 58,662,679 (GRCm39)	F507S	possibly damaging	Het
Adgrf5	A	T	17: 43,761,044 (GRCm39)	Q913L	probably benign	Het
Ak7	A	T	12: 105,732,867 (GRCm39)	N537I	probably benign	Het
Anks1	T	A	17: 28,270,629 (GRCm39)		probably null	Het
Arhgap32	T	A	9: 32,168,048 (GRCm39)	V677D	probably damaging	Het
Ark2c	G	A	18: 77,550,634 (GRCm39)	T98I	probably benign	Het
Arnt	C	T	3: 95,396,965 (GRCm39)	P466L	possibly damaging	Het
Arrb1	T	G	7: 99,243,872 (GRCm39)	L274R	probably damaging	Het
Atf2	A	T	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Baz2b	C	T	2: 59,798,981 (GRCm39)	R381Q	possibly damaging	Het
Cacna1g	C	T	11: 94,333,555 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,064,501 (GRCm39)	R343Q	probably damaging	Het
Clca3a2	G	T	3: 144,777,405 (GRCm39)	S822*	probably null	Het
Col12a1	A	T	9: 79,568,278 (GRCm39)	Y1649N	probably benign	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Cp	T	C	3: 20,043,229 (GRCm39)	Y1006H	probably benign	Het
Ctbs	A	G	3: 146,160,735 (GRCm39)	T101A	probably benign	Het
Cyp4a31	T	C	4: 115,426,951 (GRCm39)	F170L	probably benign	Het
Dock1	A	C	7: 134,345,976 (GRCm39)	I173L	possibly damaging	Het
Dock4	A	G	12: 40,743,024 (GRCm39)	D393G	possibly damaging	Het
Dsg1a	T	A	18: 20,455,374 (GRCm39)	S113T	probably damaging	Het
Epha3	T	C	16: 63,431,311 (GRCm39)	D530G	probably damaging	Het
Erbb4	T	A	1: 68,435,411 (GRCm39)	H162L	possibly damaging	Het
Fam131c	C	T	4: 141,110,142 (GRCm39)	T180I	probably benign	Het
Fndc1	A	G	17: 7,992,041 (GRCm39)	S552P	unknown	Het
Foxf1	A	G	8: 121,811,297 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,828 (GRCm39)	T560A	possibly damaging	Het
Gabra4	G	A	5: 71,790,975 (GRCm39)	T289M	probably damaging	Het
Gcnt1	A	G	19: 17,307,197 (GRCm39)	V176A	probably damaging	Het
Gemin8	G	A	X: 164,963,644 (GRCm39)	S100N	probably benign	Het
Gm1527	T	C	3: 28,974,567 (GRCm39)	I460T	probably damaging	Het
Gm6729	A	G	10: 86,376,039 (GRCm39)		noncoding transcript	Het
Gprin2	T	C	14: 33,917,036 (GRCm39)	S245G	probably benign	Het
Gsdmc	A	T	15: 63,675,479 (GRCm39)	I112N	probably damaging	Het
Hspb6	A	G	7: 30,252,848 (GRCm39)	D30G	probably benign	Het
Hydin	A	G	8: 111,259,903 (GRCm39)	D2625G	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf2	T	A	8: 47,290,875 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,926,226 (GRCm39)		probably null	Het
Khdc3	G	A	9: 73,010,773 (GRCm39)	E208K	possibly damaging	Het
Kifc1	A	T	17: 34,102,636 (GRCm39)	S263T	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Magec2	T	A	X: 61,334,512 (GRCm39)	D177E	probably benign	Het
Mertk	T	C	2: 128,632,248 (GRCm39)		probably null	Het
Metrn	A	G	17: 26,013,951 (GRCm39)	*292R	probably null	Het
Mllt6	G	T	11: 97,555,849 (GRCm39)	A60S	probably damaging	Het
Mmp21	T	C	7: 133,280,774 (GRCm39)	I65M	probably benign	Het
Myo7b	A	G	18: 32,099,929 (GRCm39)	L1651P	probably damaging	Het
Nhsl1	A	G	10: 18,284,103 (GRCm39)	S15G	probably benign	Het
Nos1ap	T	C	1: 170,165,687 (GRCm39)	D192G	probably benign	Het
Nrcam	A	G	12: 44,619,032 (GRCm39)	T844A	probably damaging	Het
Pax4	A	G	6: 28,444,840 (GRCm39)	L203P	probably damaging	Het
Pbld2	T	C	10: 62,912,212 (GRCm39)	I280T	probably benign	Het
Pclo	A	G	5: 14,838,420 (GRCm39)	Y4681C	unknown	Het
Phyhip	T	A	14: 70,699,200 (GRCm39)	M1K	probably null	Het
Plppr4	T	C	3: 117,116,490 (GRCm39)	N456D	probably damaging	Het
Prpf31	T	C	7: 3,643,856 (GRCm39)	Y473H	probably damaging	Het
Rapgef2	A	T	3: 79,000,056 (GRCm39)	V564D	probably damaging	Het
Rexo1	T	C	10: 80,378,585 (GRCm39)	S1123G	probably benign	Het
Rnasel	C	A	1: 153,631,759 (GRCm39)	Q513K	probably damaging	Het
Rnf213	T	C	11: 119,332,714 (GRCm39)	V2641A	probably damaging	Het
Rnf40	G	T	7: 127,189,787 (GRCm39)	R184L	probably damaging	Het
Rnf8	A	G	17: 29,845,946 (GRCm39)	K179R	probably damaging	Het
Sipa1l2	C	T	8: 126,174,352 (GRCm39)	D1309N	possibly damaging	Het
Slc25a38	T	A	9: 119,952,769 (GRCm39)	M307K	possibly damaging	Het
Snx33	T	C	9: 56,833,466 (GRCm39)	D201G	possibly damaging	Het
Sulf1	T	A	1: 12,887,574 (GRCm39)	Y249*	probably null	Het
Sult2a4	G	A	7: 13,643,785 (GRCm39)	Q261*	probably null	Het
Syndig1	G	A	2: 149,845,154 (GRCm39)	A226T	probably damaging	Het
Tcaf2	C	T	6: 42,601,385 (GRCm39)	W891*	probably null	Het
Tcf15	C	A	2: 151,985,808 (GRCm39)	T88K	probably damaging	Het
Tmem19	A	T	10: 115,183,122 (GRCm39)	M117K	probably damaging	Het
Trim32	T	C	4: 65,532,241 (GRCm39)	L266P	probably benign	Het
Vmn2r11	T	C	5: 109,201,707 (GRCm39)	I266V	probably benign	Het
Vmn2r73	A	T	7: 85,519,486 (GRCm39)	Y491N	probably benign	Het
Wrn	C	T	8: 33,782,744 (GRCm39)	E486K	probably benign	Het
Zfp457	T	C	13: 67,441,501 (GRCm39)	E262G	probably damaging	Het
Zfp598	A	G	17: 24,897,603 (GRCm39)	D308G	probably null	Het
Zup1	T	C	10: 33,803,436 (GRCm39)	I549M	probably 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
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
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'- TCCTTGCAGAGTGGAAGTCCTGTC -3'
(R):5'- AGTGTGAGCCTGATGCCCTTGATG -3'

Sequencing Primer
(F):5'- TCCTGTCCGGGAAGGAAAC -3'
(R):5'- TGATGCCTCCCTCCACAG -3'

Posted On

2014-04-13