Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Map2k2'

82884

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

039101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80941749-80960531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80955482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 67 (D67E)

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

probably benign
Transcript: ENSMUST00000105331
AA Change: D288E

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

SMART Domains

Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: D288E

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

probably benign
Transcript: ENSMUST00000143517
AA Change: D288E

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

SMART Domains

Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: D288E

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
AA Change: D67E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	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
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

Predicted Primers

PCR Primer
(F):5'- GTCCTAGCCTCTGAACATGCATCC -3'
(R):5'- TGTAACTCTGTCCCCAGAAAGCCC -3'

Sequencing Primer
(F):5'- TGAACATGCATCCTCAGTGG -3'
(R):5'- CAGGACCATCTGAGGACTGC -3'

Posted On

2013-11-08