Mutagenetix > Incidental Mutation

Incidental Mutation 'R2203:Map2k2'

238845

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

040205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2203 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80941749-80960531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80955213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000151784 (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

possibly damaging
Transcript: ENSMUST00000105331
AA Change: S235P

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: S235P

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

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

possibly damaging
Transcript: ENSMUST00000143517
AA Change: S235P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: S235P

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 damaging
Transcript: ENSMUST00000220329
AA Change: S14P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abcc5	C	G	16: 20,224,632 (GRCm39)	L44F	possibly damaging	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Brca2	T	A	5: 150,462,967 (GRCm39)	D910E	possibly damaging	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Ccdc66	T	A	14: 27,208,790 (GRCm39)	D488V	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Clptm1	G	T	7: 19,367,817 (GRCm39)	F598L	possibly damaging	Het
Cntrl	G	A	2: 35,033,749 (GRCm39)	V257I	possibly damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Crebbp	A	C	16: 3,956,641 (GRCm39)	M394R	possibly damaging	Het
Ctnnd1	A	G	2: 84,447,024 (GRCm39)	L407P	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gapdh	A	T	6: 125,139,569 (GRCm39)	S165T	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Grik4	T	A	9: 42,458,951 (GRCm39)	S596C	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Htr5b	T	C	1: 121,455,693 (GRCm39)	T76A	probably damaging	Het
Iars1	A	G	13: 49,876,151 (GRCm39)	E812G	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Kcnj5	T	C	9: 32,234,196 (GRCm39)	T40A	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Med26	T	C	8: 73,249,746 (GRCm39)	E451G	probably damaging	Het
Nbeal1	T	A	1: 60,323,165 (GRCm39)	M2081K	probably benign	Het
Nectin4	G	A	1: 171,213,797 (GRCm39)	V433M	possibly damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pkd1	G	T	17: 24,799,863 (GRCm39)	A591S	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Rabep1	A	C	11: 70,825,400 (GRCm39)	E689A	probably damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Saxo1	A	C	4: 86,363,998 (GRCm39)	Y162D	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l2	A	T	8: 126,218,366 (GRCm39)	W324R	probably damaging	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc26a8	G	T	17: 28,866,981 (GRCm39)	L583I	probably benign	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Ttc39a	A	G	4: 109,288,785 (GRCm39)	N293S	probably benign	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfp712	T	A	13: 67,190,048 (GRCm39)	T160S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCATGCACAGAGGTAAGCG -3'
(R):5'- CTAGTTCCTTGGCATCAGGTGG -3'

Sequencing Primer
(F):5'- TAAGTGGGCCAGGCTGG -3'
(R):5'- ATACCTCCCGATGGCCAG -3'

Posted On

2014-10-02