Mutagenetix > Incidental Mutation

Incidental Mutation 'R7741:Map2k2'

596559

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

045797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80941749-80960531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80956877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 307 (V307A)

Ref Sequence

ENSEMBL: ENSMUSP00000121111 (fasta)

Gene Model

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

AlphaFold

Q63932

Predicted Effect

probably benign
Transcript: ENSMUST00000048223

SMART Domains

Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027

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 benign
Transcript: ENSMUST00000105331

SMART Domains

Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136743

SMART Domains

Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027

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 benign
Transcript: ENSMUST00000143517
AA Change: V307A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: V307A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,290,551 (GRCm39)	P118S	probably damaging	Het
Adgrl1	T	A	8: 84,656,343 (GRCm39)	D215E	probably damaging	Het
Afap1l2	T	C	19: 56,902,914 (GRCm39)	D755G	probably damaging	Het
Akr1c18	T	A	13: 4,194,332 (GRCm39)	D109V	possibly damaging	Het
Brdt	G	A	5: 107,506,752 (GRCm39)	R445H	probably benign	Het
Capn2	C	A	1: 182,307,288 (GRCm39)	E517*	probably null	Het
Celsr1	A	T	15: 85,863,303 (GRCm39)	V1243E	possibly damaging	Het
Cenpe	C	G	3: 134,953,096 (GRCm39)		probably null	Het
Cep135	A	G	5: 76,778,817 (GRCm39)	E748G	probably damaging	Het
Cfap119	C	A	7: 127,187,159 (GRCm39)	V35L	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Col6a1	C	A	10: 76,545,743 (GRCm39)	A910S	unknown	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Dot1l	C	T	10: 80,619,378 (GRCm39)	R412W	probably damaging	Het
Dyrk2	T	C	10: 118,695,594 (GRCm39)	T555A	probably benign	Het
Foxn3	T	C	12: 99,162,587 (GRCm39)	N438S	probably damaging	Het
Gdpd5	T	C	7: 99,103,001 (GRCm39)	F320S	probably damaging	Het
Grn	A	G	11: 102,326,560 (GRCm39)	H413R	probably damaging	Het
Gstm7	A	T	3: 107,838,963 (GRCm39)	M3K	possibly damaging	Het
Il17rd	A	G	14: 26,822,293 (GRCm39)	E673G	probably damaging	Het
Klhl29	T	C	12: 5,187,500 (GRCm39)	D288G	possibly damaging	Het
Klk1b11	G	A	7: 43,426,421 (GRCm39)	A79T	probably benign	Het
Kmt2a	A	G	9: 44,719,359 (GRCm39)	V3914A	unknown	Het
Mst1r	G	T	9: 107,784,319 (GRCm39)		probably benign	Het
Nr3c2	A	G	8: 77,937,275 (GRCm39)	E834G	probably damaging	Het
Oga	A	T	19: 45,764,501 (GRCm39)	L213H	probably damaging	Het
Ogfod3	T	G	11: 121,074,362 (GRCm39)		probably null	Het
Or5b102	A	T	19: 13,041,423 (GRCm39)	Y216F	probably damaging	Het
Or8d2	T	C	9: 38,759,614 (GRCm39)	L68P	probably damaging	Het
Plscr4	A	T	9: 92,364,693 (GRCm39)		probably null	Het
Pou2f1	A	G	1: 165,703,444 (GRCm39)	S749P	probably damaging	Het
Ppp4r3b	T	G	11: 29,155,701 (GRCm39)	L556V	possibly damaging	Het
Psd4	T	G	2: 24,291,108 (GRCm39)		probably null	Het
Rbbp4	T	C	4: 129,228,356 (GRCm39)	D33G	probably damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Rmi1	A	G	13: 58,557,067 (GRCm39)	K439E	probably benign	Het
Scgb2b7	A	G	7: 31,404,454 (GRCm39)		probably null	Het
Sdc1	A	G	12: 8,841,370 (GRCm39)	D237G	probably benign	Het
Sel1l3	T	C	5: 53,357,593 (GRCm39)	Y133C	probably damaging	Het
Snx31	A	G	15: 36,523,587 (GRCm39)		probably null	Het
Snx7	A	G	3: 117,632,488 (GRCm39)	F201S	probably damaging	Het
Tas2r131	C	T	6: 132,934,438 (GRCm39)	V124I	possibly damaging	Het
Tbx20	A	T	9: 24,651,581 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,197,756 (GRCm39)	N445I	probably damaging	Het
Tpx2	T	A	2: 152,709,263 (GRCm39)	I31K	possibly damaging	Het
Trpv3	T	A	11: 73,179,088 (GRCm39)	V499E	probably damaging	Het
Tshr	G	A	12: 91,500,743 (GRCm39)	W258*	probably null	Het
Usp32	G	T	11: 84,878,107 (GRCm39)	D1543E	probably damaging	Het
Usp39	A	G	6: 72,315,521 (GRCm39)		probably benign	Het
Vac14	T	C	8: 111,361,020 (GRCm39)	S197P	probably damaging	Het
Vars2	A	G	17: 35,971,835 (GRCm39)	S497P	probably damaging	Het
Zfp462	C	A	4: 55,008,637 (GRCm39)	P201Q	probably benign	Het
Zkscan5	A	G	5: 145,157,847 (GRCm39)	Q783R	possibly 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
R4876:Map2k2	UTSW	10	80,950,947 (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
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'- AGGCAGCCCATGACAAGATG -3'
(R):5'- ATGGCTTTCTGACTGGGGAC -3'

Sequencing Primer
(F):5'- AAGGGTCGACATCCACCTGTTC -3'
(R):5'- TCTGACTGGGGACTGCAGAG -3'

Posted On

2019-11-26