Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00825:Map2k2'

277996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map2k2

Ensembl Gene

ENSMUSG00000035027

Gene Name

mitogen-activated protein kinase kinase 2

Synonyms

MEK2, Prkmk2, MAP kinase/Erk kinase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00825

Quality Score

Status

Chromosome

Chromosomal Location

80941749-80960531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80954052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 173 (V173I)

Ref Sequence

ENSEMBL: ENSMUSP00000100968 (fasta)

Gene Model

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

AlphaFold

Q63932

Predicted Effect

probably benign
Transcript: ENSMUST00000048223
AA Change: V173I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027
AA Change: V173I

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
AA Change: V173I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: V173I

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: ENSMUST00000123241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128937

Predicted Effect

probably benign
Transcript: ENSMUST00000136743
AA Change: V76I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027
AA Change: V76I

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: V173I

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: V173I

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

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 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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	C	T	18: 10,704,657 (GRCm39)	V129M	probably benign	Het
Casp8	G	A	1: 58,868,165 (GRCm39)	S202N	probably benign	Het
Cimap1c	A	G	9: 56,758,975 (GRCm39)	I60T	probably benign	Het
Clec2g	C	A	6: 128,957,144 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,263,811 (GRCm39)	Y2098H	probably damaging	Het
Dzip3	T	C	16: 48,748,778 (GRCm39)	K1053E	probably damaging	Het
Ern1	T	C	11: 106,312,793 (GRCm39)	K196R	probably benign	Het
Jcad	A	T	18: 4,673,516 (GRCm39)	Y426F	probably damaging	Het
Kansl1l	T	C	1: 66,840,671 (GRCm39)	T210A	probably benign	Het
P3h2	A	G	16: 25,811,548 (GRCm39)	I225T	probably damaging	Het
Pld2	G	A	11: 70,442,006 (GRCm39)	W337*	probably null	Het
Ppp2r2b	C	T	18: 42,778,840 (GRCm39)	V429M	probably damaging	Het
Pprc1	G	T	19: 46,059,845 (GRCm39)		probably benign	Het
Ptpn4	A	G	1: 119,587,655 (GRCm39)		probably benign	Het
Rap1gds1	T	A	3: 138,689,588 (GRCm39)	I135F	possibly damaging	Het
Rasa2	A	T	9: 96,452,772 (GRCm39)	N371K	probably benign	Het
Rbbp8	A	G	18: 11,855,664 (GRCm39)	T604A	probably benign	Het
Safb2	A	G	17: 56,878,208 (GRCm39)		probably null	Het
Sec23ip	C	A	7: 128,369,333 (GRCm39)	L686I	probably damaging	Het
Slc22a6	T	C	19: 8,595,721 (GRCm39)	V21A	possibly damaging	Het
Slco1c1	A	T	6: 141,487,868 (GRCm39)	N79Y	probably damaging	Het
Tbl1xr1	G	T	3: 22,243,950 (GRCm39)		probably null	Het
Zfp961	T	A	8: 72,721,888 (GRCm39)	C134S	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
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
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

Posted On

2015-04-16