Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Map2k3'

708362

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60822880-60843637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60823055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3 (S3P)

Ref Sequence

ENSEMBL: ENSMUSP00000019076 (fasta)

Gene Model

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

AlphaFold

O09110

PDB Structure

CRYSTAL STRUCTURE OF MAP KINASE P38 COMPLEXED TO THE DOCKING SITE ON ITS ACTIVATOR MKK3B [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019076
AA Change: S3P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019076
Gene: ENSMUSG00000018932
AA Change: S3P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130269
AA Change: S3P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114430
Gene: ENSMUSG00000018932
AA Change: S3P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,681,817 (GRCm39)	V747A	probably benign	Het
Arfgef1	G	A	1: 10,270,000 (GRCm39)	P383L	probably benign	Het
Arhgef4	A	G	1: 34,849,630 (GRCm39)	E407G	probably benign	Het
Astn1	C	T	1: 158,511,721 (GRCm39)	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,636,980 (GRCm39)	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,419,000 (GRCm39)	R983H	probably benign	Het
Bmp2k	T	A	5: 97,211,366 (GRCm39)	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474 (GRCm39)	V107F	probably damaging	Het
Car3	T	A	3: 14,928,664 (GRCm39)	N11K		Het
Ccdc170	A	G	10: 4,508,695 (GRCm39)	R640G	probably benign	Het
Cep126	A	G	9: 8,100,038 (GRCm39)	V832A	possibly damaging	Het
Ces1h	C	T	8: 94,101,149 (GRCm39)	V49I		Het
Clasp2	T	A	9: 113,664,309 (GRCm39)	V310D	probably damaging	Het
Comp	C	T	8: 70,828,699 (GRCm39)	T177M	probably benign	Het
Coro1c	T	C	5: 114,003,726 (GRCm39)	S98G	probably damaging	Het
Cpa6	C	T	1: 10,479,520 (GRCm39)	V238I	probably benign	Het
Crebrf	T	C	17: 26,962,094 (GRCm39)	F397S	probably damaging	Het
Dcpp1	C	A	17: 24,099,987 (GRCm39)	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,543,144 (GRCm39)	D533G	possibly damaging	Het
Ecpas	A	T	4: 58,844,114 (GRCm39)	S551T	probably benign	Het
Epha5	T	C	5: 84,253,890 (GRCm39)	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806 (GRCm39)	Y476C	probably damaging	Het
Erich5	G	T	15: 34,471,001 (GRCm39)	V77F	probably damaging	Het
Fat4	A	G	3: 39,036,047 (GRCm39)	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,421,716 (GRCm39)	V521E	probably benign	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,799,272 (GRCm39)	L95*	probably null	Het
Gphn	A	G	12: 78,538,968 (GRCm39)	T205A	probably damaging	Het
Grik5	C	A	7: 24,767,597 (GRCm39)	A28S	possibly damaging	Het
H2-K2	A	G	17: 34,216,120 (GRCm39)	S300P	probably benign	Het
H2-Oa	T	C	17: 34,313,723 (GRCm39)	L227P	possibly damaging	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,328,302 (GRCm39)	M4328L	probably benign	Het
Htt	A	T	5: 35,053,247 (GRCm39)	M2527L	probably benign	Het
Impdh2	A	T	9: 108,442,402 (GRCm39)	H466L	probably benign	Het
Itgae	G	A	11: 73,006,906 (GRCm39)	G384D	probably damaging	Het
Krt90	T	C	15: 101,461,714 (GRCm39)	S496G	unknown	Het
Krtap5-5	A	G	7: 141,783,114 (GRCm39)	S179P	unknown	Het
Lif	C	T	11: 4,219,044 (GRCm39)	R63W	probably damaging	Het
Lrrc10	T	C	10: 116,881,881 (GRCm39)	V185A	probably damaging	Het
Lrrc27	A	C	7: 138,822,648 (GRCm39)	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mc2r	T	C	18: 68,541,195 (GRCm39)	T33A	probably benign	Het
Mefv	T	A	16: 3,525,882 (GRCm39)	D795V	probably damaging	Het
Megf6	A	T	4: 154,338,282 (GRCm39)	R451W	probably damaging	Het
Mrpl21	G	A	19: 3,336,937 (GRCm39)	V103M	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,214,948 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,384,888 (GRCm39)	S760P	probably damaging	Het
Ndst4	A	G	3: 125,403,246 (GRCm39)	Y451C	probably damaging	Het
Nkain4	T	C	2: 180,577,775 (GRCm39)	N193S	possibly damaging	Het
Opa1	T	A	16: 29,432,807 (GRCm39)	L490H	probably damaging	Het
Opcml	A	C	9: 28,814,650 (GRCm39)	I301L	probably benign	Het
Or10ak16	G	A	4: 118,750,784 (GRCm39)	S168N	probably benign	Het
Or1e33	A	G	11: 73,738,643 (GRCm39)	F103L	probably damaging	Het
Or4p23	A	T	2: 88,576,749 (GRCm39)	I161N	probably damaging	Het
Or52s19	T	C	7: 103,008,125 (GRCm39)	H92R	probably benign	Het
Pabpc1l	T	C	2: 163,884,469 (GRCm39)	L402P	probably benign	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Peak1	G	T	9: 56,167,454 (GRCm39)	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,322,169 (GRCm39)	P406L	probably benign	Het
Qpctl	T	C	7: 18,875,146 (GRCm39)	H362R	probably damaging	Het
Ripor2	A	G	13: 24,885,694 (GRCm39)	H643R	probably benign	Het
Scn11a	A	T	9: 119,584,160 (GRCm39)	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,594,433 (GRCm39)	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,166,077 (GRCm39)	D370G	probably benign	Het
Sec24b	A	T	3: 129,787,489 (GRCm39)	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 127,108,967 (GRCm39)	I172T	probably damaging	Het
Smc3	T	C	19: 53,622,544 (GRCm39)		probably null	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Sos1	T	A	17: 80,722,479 (GRCm39)	I856F	possibly damaging	Het
Sp2	A	T	11: 96,852,231 (GRCm39)	L231H	possibly damaging	Het
Syne1	T	C	10: 5,318,255 (GRCm39)	Y457C	probably damaging	Het
Tdpoz6	T	C	3: 93,600,307 (GRCm39)	T21A	possibly damaging	Het
Tekt5	T	C	16: 10,213,268 (GRCm39)	T6A	possibly damaging	Het
Tln2	G	T	9: 67,262,529 (GRCm39)	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,633,821 (GRCm39)	S313P	probably damaging	Het
Trmt12	G	A	15: 58,744,824 (GRCm39)	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,473 (GRCm39)	D561G	probably benign	Het
Ttn	A	G	2: 76,700,769 (GRCm39)	V62A		Het
Tubgcp5	T	C	7: 55,467,177 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,098,375 (GRCm39)	V1137M	possibly damaging	Het
Zfp729a	A	G	13: 67,767,515 (GRCm39)	C905R	probably damaging	Het
Zfp735	A	G	11: 73,602,362 (GRCm39)	I435M	probably benign	Het
Zswim4	C	A	8: 84,955,687 (GRCm39)	G271W	probably damaging	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
R7389:Map2k3	UTSW	11	60,822,862 (GRCm39)	unclassified	probably benign
R8998:Map2k3	UTSW	11	60,840,817 (GRCm39)	missense
R8999:Map2k3	UTSW	11	60,840,817 (GRCm39)	missense
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'- TTTTCAGGCGGGCCAATCAG -3'
(R):5'- TTCCAATAAGGTCCCGTGAGG -3'

Sequencing Primer
(F):5'- CCAATCAGTACGATGGGCG -3'
(R):5'- GTGAGGTCCCGGGCTTG -3'

Posted On

2022-04-18