Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Map2k6'

592777

Institutional Source

Beutler Lab

Gene Symbol

Map2k6

Ensembl Gene

ENSMUSG00000020623

Gene Name

mitogen-activated protein kinase kinase 6

Synonyms

MAP kinase kinase 6, SAPKK3, MKK6, Prkmk6

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110289948-110416348 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 110388729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 224 (R224*)

Ref Sequence

ENSEMBL: ENSMUSP00000020949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020949] [ENSMUST00000100260]

AlphaFold

P70236

Predicted Effect

probably null
Transcript: ENSMUST00000020949
AA Change: R224*

SMART Domains

Protein: ENSMUSP00000020949
Gene: ENSMUSG00000020623
AA Change: R224*

Domain	Start	End	E-Value	Type
S_TKc	53	314	2.82e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000100260
AA Change: R224*

SMART Domains

Protein: ENSMUSP00000097831
Gene: ENSMUSG00000020623
AA Change: R224*

Domain	Start	End	E-Value	Type
Pfam:Pkinase	53	288	4.3e-47	PFAM
Pfam:Pkinase_Tyr	53	289	1.2e-32	PFAM
Pfam:Kinase-like	57	274	7.3e-8	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null targeted mutations of this gene are viable, grow normally and have no gross physical or histologic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	probably benign	Het

Other mutations in Map2k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Map2k6	APN	11	110,387,237 (GRCm39)	missense	probably damaging	1.00
IGL01778:Map2k6	APN	11	110,403,695 (GRCm39)	intron	probably benign
IGL02058:Map2k6	APN	11	110,383,409 (GRCm39)	missense	probably damaging	1.00
IGL02580:Map2k6	APN	11	110,381,667 (GRCm39)	missense	probably damaging	0.98
IGL03139:Map2k6	APN	11	110,387,299 (GRCm39)	splice site	probably benign
Heartening	UTSW	11	110,383,734 (GRCm39)	missense
Uplifting	UTSW	11	110,383,388 (GRCm39)	missense	probably damaging	1.00
R0230:Map2k6	UTSW	11	110,387,281 (GRCm39)	missense	probably damaging	1.00
R0361:Map2k6	UTSW	11	110,390,335 (GRCm39)	missense	probably damaging	0.99
R0634:Map2k6	UTSW	11	110,385,169 (GRCm39)	nonsense	probably null
R1716:Map2k6	UTSW	11	110,388,727 (GRCm39)	missense	probably damaging	1.00
R2214:Map2k6	UTSW	11	110,387,167 (GRCm39)	missense	probably damaging	1.00
R2279:Map2k6	UTSW	11	110,390,290 (GRCm39)	missense	probably damaging	1.00
R4610:Map2k6	UTSW	11	110,390,300 (GRCm39)	missense	probably damaging	1.00
R4677:Map2k6	UTSW	11	110,290,220 (GRCm39)	utr 5 prime	probably benign
R5299:Map2k6	UTSW	11	110,383,789 (GRCm39)	missense	probably benign	0.03
R5761:Map2k6	UTSW	11	110,290,197 (GRCm39)	utr 5 prime	probably benign
R5996:Map2k6	UTSW	11	110,388,732 (GRCm39)	missense	possibly damaging	0.77
R6391:Map2k6	UTSW	11	110,381,703 (GRCm39)	critical splice donor site	probably null
R6529:Map2k6	UTSW	11	110,383,388 (GRCm39)	missense	probably damaging	1.00
R7020:Map2k6	UTSW	11	110,397,540 (GRCm39)	intron	probably benign
R7345:Map2k6	UTSW	11	110,383,734 (GRCm39)	missense
R7980:Map2k6	UTSW	11	110,390,210 (GRCm39)	missense
R8087:Map2k6	UTSW	11	110,381,002 (GRCm39)	missense	probably benign	0.00
R8093:Map2k6	UTSW	11	110,373,411 (GRCm39)	missense	probably benign
R8531:Map2k6	UTSW	11	110,290,175 (GRCm39)	start gained	probably benign
R8834:Map2k6	UTSW	11	110,383,419 (GRCm39)	nonsense	probably null
R9028:Map2k6	UTSW	11	110,388,799 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GGATCTGAATTCATTGCTGCCTG -3'
(R):5'- GTGCCCAAGTGTGATATCAAAGG -3'

Sequencing Primer
(F):5'- AAGCCCTGTGGAGACATTTC -3'
(R):5'- GATATCAAAGGCTTCTGGGTCCC -3'

Posted On

2019-11-12