Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Map2k3'

573315

Institutional Source

Beutler Lab

Gene Symbol

Map2k3

Ensembl Gene

ENSMUSG00000018932

Gene Name

mitogen-activated protein kinase kinase 3

Synonyms

MAP kinase kinase 3, MKK3, Prkmk3

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7389 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

60822880-60843637 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 60822862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019076] [ENSMUST00000130269]

AlphaFold

O09110

Predicted Effect

probably benign
Transcript: ENSMUST00000019076

SMART Domains

Protein: ENSMUSP00000019076
Gene: ENSMUSG00000018932

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
S_TKc	64	325	1.41e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130269

SMART Domains

Protein: ENSMUSP00000114430
Gene: ENSMUSG00000018932

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Pkinase	64	173	1.3e-12	PFAM
Pfam:Pkinase_Tyr	64	173	3.5e-10	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production. [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
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,079,107 (GRCm39)	R150L	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Ino80	A	C	2: 119,273,010 (GRCm39)	S489A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Or5v1b	A	G	17: 37,841,548 (GRCm39)	R227G	possibly damaging	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Rhbdl3	T	A	11: 80,237,665 (GRCm39)	M299K	possibly damaging	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,881,481 (GRCm39)	S458L	probably damaging	Het
Tspan18	A	T	2: 93,040,272 (GRCm39)	V161E	probably benign	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	Het

Other mutations in Map2k3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Map2k3	APN	11	60,834,041 (GRCm39)	missense	possibly damaging	0.54
IGL00901:Map2k3	APN	11	60,832,747 (GRCm39)	missense	probably benign	0.00
IGL01620:Map2k3	APN	11	60,840,873 (GRCm39)	missense	possibly damaging	0.86
IGL02197:Map2k3	APN	11	60,837,590 (GRCm39)	missense	probably damaging	1.00
R1907:Map2k3	UTSW	11	60,823,055 (GRCm39)	missense	possibly damaging	0.70
R2069:Map2k3	UTSW	11	60,840,853 (GRCm39)	missense	probably damaging	1.00
R4447:Map2k3	UTSW	11	60,837,997 (GRCm39)	missense	probably damaging	1.00
R5106:Map2k3	UTSW	11	60,832,708 (GRCm39)	missense	probably damaging	0.97
R5163:Map2k3	UTSW	11	60,834,317 (GRCm39)	missense	probably damaging	1.00
R6043:Map2k3	UTSW	11	60,837,572 (GRCm39)	missense	probably benign	0.01
R6147:Map2k3	UTSW	11	60,840,776 (GRCm39)	nonsense	probably null
R6659:Map2k3	UTSW	11	60,833,150 (GRCm39)	missense	probably benign	0.45
R7206:Map2k3	UTSW	11	60,834,406 (GRCm39)	missense
R7261:Map2k3	UTSW	11	60,836,393 (GRCm39)	splice site	probably null
R8998:Map2k3	UTSW	11	60,840,817 (GRCm39)	missense
R8999:Map2k3	UTSW	11	60,840,817 (GRCm39)	missense
R9355:Map2k3	UTSW	11	60,823,055 (GRCm39)	missense	possibly damaging	0.73
R9729:Map2k3	UTSW	11	60,837,472 (GRCm39)	missense
R9746:Map2k3	UTSW	11	60,822,929 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATCTAGACGGCAAGAGGG -3'
(R):5'- CCTACCTTTGGTCTGAGGCAAG -3'

Sequencing Primer
(F):5'- CTGTACTAAGGGGAAAGCT -3'
(R):5'- TGGTCTGAGGCAAGCTGGC -3'

Posted On

2019-09-13