Mutagenetix > Incidental Mutation

Incidental Mutation 'R5761:Map2k6'

445321

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

043363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110289948-110416348 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to G at 110290197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097831 (fasta)

Gene Model

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

AlphaFold

P70236

Predicted Effect

probably benign
Transcript: ENSMUST00000020949

SMART Domains

Protein: ENSMUSP00000020949
Gene: ENSMUSG00000020623

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100260

SMART Domains

Protein: ENSMUSP00000097831
Gene: ENSMUSG00000020623

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146084

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,100,927 (GRCm39)	V953D	probably damaging	Het
Abcb8	T	C	5: 24,610,879 (GRCm39)		probably benign	Het
Acad12	A	T	5: 121,742,243 (GRCm39)		probably benign	Het
Adam2	A	T	14: 66,283,595 (GRCm39)	C436S	probably damaging	Het
Aebp2	T	C	6: 140,569,943 (GRCm39)		probably benign	Het
Akap8	A	T	17: 32,536,159 (GRCm39)	C85S	possibly damaging	Het
Aldh1a3	C	A	7: 66,068,927 (GRCm39)	R19L	probably damaging	Het
Baz2a	A	G	10: 127,955,559 (GRCm39)	T848A	possibly damaging	Het
Bud13	C	T	9: 46,199,350 (GRCm39)	A237V	probably benign	Het
Cbarp	CGCCTCTGCTGCCTCT	CGCCTCT	10: 79,968,067 (GRCm39)		probably benign	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccz1	C	T	5: 143,929,328 (GRCm39)	G367R	probably damaging	Het
Cep104	T	C	4: 154,065,681 (GRCm39)	V56A	possibly damaging	Het
Chd6	C	A	2: 160,798,998 (GRCm39)	R2362S	probably damaging	Het
Chd6	C	T	2: 160,798,999 (GRCm39)	R2362K	probably damaging	Het
Cmc1	T	C	9: 117,944,443 (GRCm39)	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,374,619 (GRCm39)	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,693,778 (GRCm39)	L66*	probably null	Het
Crmp1	A	G	5: 37,440,212 (GRCm39)	T329A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,378,843 (GRCm39)	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 72,749,975 (GRCm39)	I225F	probably damaging	Het
Ddhd2	A	G	8: 26,231,726 (GRCm39)	V432A	probably benign	Het
Ecpas	T	C	4: 58,853,131 (GRCm39)	I401M	probably damaging	Het
Foxq1	G	A	13: 31,743,314 (GRCm39)	A139T	probably damaging	Het
Gm10428	G	T	11: 62,644,169 (GRCm39)		probably benign	Het
Gpr89	A	G	3: 96,800,196 (GRCm39)	L134P	probably damaging	Het
Hjv	T	C	3: 96,435,938 (GRCm39)	S399P	probably benign	Het
Hrc	A	T	7: 44,986,025 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Igf2r	A	C	17: 12,917,239 (GRCm39)		probably null	Het
Itga2b	A	G	11: 102,357,100 (GRCm39)	F260S	probably benign	Het
Kif2a	T	A	13: 107,098,672 (GRCm39)	N698I	probably benign	Het
Lap3	A	C	5: 45,662,147 (GRCm39)	I316L	probably benign	Het
Mtrex	T	A	13: 113,054,196 (GRCm39)	I146F	probably damaging	Het
Myh1	A	G	11: 67,110,078 (GRCm39)	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,250,061 (GRCm39)	V1081A	probably benign	Het
Nom1	A	G	5: 29,642,639 (GRCm39)	E380G	probably damaging	Het
Nwd2	A	T	5: 63,882,573 (GRCm39)	Y75F	probably damaging	Het
Or3a1b	T	A	11: 74,012,335 (GRCm39)	D73E	probably damaging	Het
Or51a24	G	A	7: 103,733,376 (GRCm39)	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,866,301 (GRCm39)	V518A	probably damaging	Het
Ptgs2	A	G	1: 149,981,279 (GRCm39)	M521V	probably benign	Het
Qsox1	T	A	1: 155,655,274 (GRCm39)	M630L	probably benign	Het
Spty2d1	A	G	7: 46,648,032 (GRCm39)	L299P	probably damaging	Het
St6gal1	T	G	16: 23,139,805 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,984,283 (GRCm39)	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,855,808 (GRCm39)	T124M	probably benign	Het
Tmem171	A	G	13: 98,829,019 (GRCm39)	Y44H	probably damaging	Het
Usp35	C	T	7: 96,961,558 (GRCm39)	V623I	probably benign	Het
Vangl2	T	A	1: 171,833,694 (GRCm39)	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,507,905 (GRCm39)	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,382,338 (GRCm39)	K297I	unknown	Het
Vmn2r23	C	A	6: 123,689,718 (GRCm39)	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 84,953,223 (GRCm39)		noncoding transcript	Het
Xirp2	A	G	2: 67,341,311 (GRCm39)	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,983,810 (GRCm39)		probably benign	Het
Zbtb39	C	T	10: 127,578,515 (GRCm39)	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,728 (GRCm39)	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,730 (GRCm39)	P534T	probably damaging	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
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
R7681:Map2k6	UTSW	11	110,388,729 (GRCm39)	nonsense	probably null
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'- CCATCATGTAGCTGCAGCAC -3'
(R):5'- CTAAACAGGAAATGCAACTGAGCTG -3'

Sequencing Primer
(F):5'- TCCCTAACGTTGCAACTGGG -3'
(R):5'- ACTGAGCTGTGGCAAACCTC -3'

Posted On

2016-11-21