Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Map2k2'

376892

Institutional Source

Beutler Lab

Gene Symbol

Map2k2

Ensembl Gene

ENSMUSG00000035027

Gene Name

mitogen-activated protein kinase kinase 2

Synonyms

MEK2, Prkmk2, MAP kinase/Erk kinase

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80941749-80960531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80950947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 131 (V131M)

Ref Sequence

ENSEMBL: ENSMUSP00000121111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048223] [ENSMUST00000105331] [ENSMUST00000136743] [ENSMUST00000143517] [ENSMUST00000220329]

AlphaFold

Q63932

Predicted Effect

probably damaging
Transcript: ENSMUST00000048223
AA Change: V131M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027
AA Change: V131M

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
Pfam:Pkinase_Tyr	72	191	1.2e-10	PFAM
Pfam:Pkinase	72	196	5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105331
AA Change: V131M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: V131M

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
S_TKc	72	369	8.75e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123888

Predicted Effect

probably damaging
Transcript: ENSMUST00000136743
AA Change: V34M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027
AA Change: V34M

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	85	5.8e-14	PFAM
Pfam:Pkinase_Tyr	1	85	6.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143517
AA Change: V131M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: V131M

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
S_TKc	72	370	1.24e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220329

Meta Mutation Damage Score

0.8393

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

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 known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are viable, fertile, and apparently normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
A630001G21Rik	C	T	1: 85,646,761 (GRCm39)	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano4	A	G	10: 88,948,697 (GRCm39)	F138L	probably damaging	Het
Aoc1	T	C	6: 48,883,681 (GRCm39)	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,631,310 (GRCm39)	Y558*	probably null	Het
Atxn3	T	A	12: 101,914,638 (GRCm39)	S29C	probably damaging	Het
Bbs2	T	C	8: 94,796,788 (GRCm39)		probably benign	Het
Bicral	A	T	17: 47,136,502 (GRCm39)	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,377,599 (GRCm39)	V30A	probably benign	Het
Cap2	A	G	13: 46,684,497 (GRCm39)	M1V	probably null	Het
Ccdc153	T	C	9: 44,152,305 (GRCm39)	M1T	probably null	Het
Ccnf	A	T	17: 24,449,311 (GRCm39)	V489D	probably damaging	Het
Cdin1	A	C	2: 115,500,539 (GRCm39)	H159P	probably damaging	Het
Cntnap3	T	C	13: 64,935,520 (GRCm39)	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,814 (GRCm39)	D371N	probably benign	Het
Csl	T	A	10: 99,594,402 (GRCm39)	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,448,635 (GRCm39)		probably benign	Het
Dennd4a	T	A	9: 64,803,872 (GRCm39)	N1070K	probably benign	Het
Dipk2a	C	T	9: 94,419,630 (GRCm39)	R100H	probably damaging	Het
Dmwd	A	T	7: 18,814,472 (GRCm39)	D374V	probably damaging	Het
Eea1	G	T	10: 95,831,475 (GRCm39)	A189S	probably benign	Het
Fasn	A	G	11: 120,703,138 (GRCm39)	V1629A	probably damaging	Het
Fcgbpl1	A	T	7: 27,842,225 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,990,471 (GRCm39)	D1075G	unknown	Het
Fsip2	A	G	2: 82,805,202 (GRCm39)	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,063,413 (GRCm39)	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,490,841 (GRCm39)	Y288H	probably benign	Het
H2-M11	A	T	17: 36,858,401 (GRCm39)	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,279,606 (GRCm39)	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,960 (GRCm39)	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il16	A	C	7: 83,322,302 (GRCm39)	S338A	probably benign	Het
Itpr1	G	A	6: 108,459,867 (GRCm39)	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,474,220 (GRCm39)	I385F	probably damaging	Het
Limch1	G	A	5: 67,039,270 (GRCm39)	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,278 (GRCm39)	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,288,416 (GRCm39)	D96V	probably damaging	Het
Mapk9	T	C	11: 49,745,152 (GRCm39)	V22A	probably damaging	Het
Mettl2	T	C	11: 105,019,894 (GRCm39)	I177T	probably damaging	Het
Mob4	C	T	1: 55,191,995 (GRCm39)		probably benign	Het
Mybpc1	A	T	10: 88,372,286 (GRCm39)	N781K	probably benign	Het
Mybpc1	T	C	10: 88,358,853 (GRCm39)	I1113V	probably benign	Het
Myom1	A	G	17: 71,384,405 (GRCm39)	T707A	probably damaging	Het
Ncam2	G	A	16: 81,287,234 (GRCm39)	A383T	probably benign	Het
Nomo1	T	C	7: 45,715,915 (GRCm39)	S761P	probably damaging	Het
Nsd3	T	A	8: 26,181,161 (GRCm39)	S921T	possibly damaging	Het
Omp	A	T	7: 97,794,233 (GRCm39)	D131E	probably benign	Het
Or10d1c	A	T	9: 38,893,922 (GRCm39)	C139*	probably null	Het
Or4f7d-ps1	C	G	2: 111,675,040 (GRCm39)		noncoding transcript	Het
Or8d4	C	T	9: 40,038,514 (GRCm39)	V248I	probably damaging	Het
Pard3	T	C	8: 128,287,950 (GRCm39)		probably benign	Het
Parg	A	G	14: 31,993,625 (GRCm39)	T286A	probably damaging	Het
Parp1	T	A	1: 180,396,600 (GRCm39)	M1K	probably null	Het
Pclo	T	A	5: 14,861,694 (GRCm39)	S4882R	unknown	Het
Pcnx2	C	T	8: 126,498,847 (GRCm39)	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,832,565 (GRCm39)	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,289,236 (GRCm39)	C721*	probably null	Het
Piwil4	T	C	9: 14,651,761 (GRCm39)	D90G	probably benign	Het
Plxdc2	T	A	2: 16,708,129 (GRCm39)	C306S	probably damaging	Het
Plxna2	T	A	1: 194,326,083 (GRCm39)	F6I	probably benign	Het
Prkaa1	T	C	15: 5,203,886 (GRCm39)	M265T	probably benign	Het
Prrc2b	T	C	2: 32,104,212 (GRCm39)	V1230A	probably benign	Het
Rfx2	T	C	17: 57,091,706 (GRCm39)	E329G	probably benign	Het
Scg2	T	C	1: 79,413,636 (GRCm39)	I322M	probably damaging	Het
Scly	T	A	1: 91,247,850 (GRCm39)	N399K	probably damaging	Het
Sec23b	T	A	2: 144,428,281 (GRCm39)		probably null	Het
Sephs2	A	T	7: 126,872,219 (GRCm39)	Y291*	probably null	Het
Slc45a3	T	C	1: 131,909,285 (GRCm39)	I494T	possibly damaging	Het
Slc6a21	C	A	7: 44,929,535 (GRCm39)	Y76*	probably null	Het
Slfn14	T	A	11: 83,167,098 (GRCm39)	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,077,844 (GRCm39)	S211T	probably benign	Het
Sptbn4	A	G	7: 27,071,577 (GRCm39)	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,523,834 (GRCm39)	M567K	probably damaging	Het
Tmem121	A	T	12: 113,152,348 (GRCm39)	M189L	probably benign	Het
Tmem201	A	G	4: 149,806,727 (GRCm39)	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,800,751 (GRCm39)	V744A	probably benign	Het
Tnrc18	G	A	5: 142,717,380 (GRCm39)	S2358F	unknown	Het
Ubash3b	A	G	9: 40,929,405 (GRCm39)	V404A	probably benign	Het
Unc13c	A	T	9: 73,656,821 (GRCm39)	C1127S	probably damaging	Het
Unc5a	T	C	13: 55,145,042 (GRCm39)	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 23,180,535 (GRCm39)		noncoding transcript	Het
Wdr74	A	G	19: 8,716,849 (GRCm39)	E253G	possibly damaging	Het
Wwox	T	C	8: 115,174,988 (GRCm39)	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 87,035,012 (GRCm39)	Y147N	probably damaging	Het
Zfp131	T	C	13: 120,250,491 (GRCm39)	H44R	possibly damaging	Het
Zfp235	A	G	7: 23,840,384 (GRCm39)	T268A	probably benign	Het
Zfp280d	T	C	9: 72,206,140 (GRCm39)		probably benign	Het
Zfp358	T	C	8: 3,546,170 (GRCm39)	S251P	probably damaging	Het

Other mutations in Map2k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Map2k2	APN	10	80,956,907 (GRCm39)	missense	probably damaging	0.99
IGL00825:Map2k2	APN	10	80,954,052 (GRCm39)	missense	probably benign	0.12
IGL00826:Map2k2	APN	10	80,954,052 (GRCm39)	missense	probably benign	0.12
R0972:Map2k2	UTSW	10	80,955,482 (GRCm39)	missense	probably benign	0.00
R1772:Map2k2	UTSW	10	80,956,934 (GRCm39)	missense	probably damaging	1.00
R2202:Map2k2	UTSW	10	80,955,213 (GRCm39)	missense	probably damaging	0.98
R2203:Map2k2	UTSW	10	80,955,213 (GRCm39)	missense	probably damaging	0.98
R4010:Map2k2	UTSW	10	80,944,769 (GRCm39)	missense	probably damaging	1.00
R6905:Map2k2	UTSW	10	80,944,701 (GRCm39)	missense	probably damaging	1.00
R7073:Map2k2	UTSW	10	80,942,017 (GRCm39)	missense	probably benign
R7741:Map2k2	UTSW	10	80,956,877 (GRCm39)	missense	probably benign
R7832:Map2k2	UTSW	10	80,954,040 (GRCm39)	missense	possibly damaging	0.80
R7960:Map2k2	UTSW	10	80,954,968 (GRCm39)	missense	probably benign	0.09
R8052:Map2k2	UTSW	10	80,950,900 (GRCm39)	missense	probably damaging	1.00
R8172:Map2k2	UTSW	10	80,959,442 (GRCm39)	splice site	probably null
R8544:Map2k2	UTSW	10	80,955,376 (GRCm39)	missense	possibly damaging	0.94
R8851:Map2k2	UTSW	10	80,955,097 (GRCm39)	missense	probably damaging	1.00
R9021:Map2k2	UTSW	10	80,955,159 (GRCm39)	missense	probably damaging	0.98
R9047:Map2k2	UTSW	10	80,955,498 (GRCm39)	missense	probably benign
R9224:Map2k2	UTSW	10	80,954,008 (GRCm39)	missense	possibly damaging	0.74
R9226:Map2k2	UTSW	10	80,955,193 (GRCm39)	missense	possibly damaging	0.93
RF004:Map2k2	UTSW	10	80,951,002 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- AATGACTTCAGGACTGGGGC -3'
(R):5'- TTACCTAGAAAGCGAGGAGTGC -3'

Sequencing Primer
(F):5'- ACTTCAGGACTGGGGCTTAAG -3'
(R):5'- AGTGCAGCTCATCTGAAGCTG -3'

Posted On

2016-03-17