Mutagenetix > Incidental Mutation

Incidental Mutation 'R8093:Map2k6'

630010

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

067525-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110289948-110416348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110373411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 21 (E21D)

Ref Sequence

ENSEMBL: ENSMUSP00000020949 (fasta)

Gene Model

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

AlphaFold

P70236

Predicted Effect

probably benign
Transcript: ENSMUST00000020949
AA Change: E21D

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

SMART Domains

Protein: ENSMUSP00000020949
Gene: ENSMUSG00000020623
AA Change: E21D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100260
AA Change: E21D

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

SMART Domains

Protein: ENSMUSP00000097831
Gene: ENSMUSG00000020623
AA Change: E21D

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

100% (60/60)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,669,368 (GRCm39)	T745S	possibly damaging	Het
Abca12	T	C	1: 71,319,552 (GRCm39)	I1777V	probably benign	Het
Abhd6	T	C	14: 8,028,353 (GRCm38)	L28P	probably damaging	Het
Angpt1	T	A	15: 42,339,873 (GRCm39)	E279D	probably benign	Het
Arfgef2	A	G	2: 166,736,577 (GRCm39)	M1750V	probably benign	Het
Atrn	T	C	2: 130,817,908 (GRCm39)	F821L	probably benign	Het
Cbx3	A	G	6: 51,458,748 (GRCm39)	E71G	possibly damaging	Het
Ccdc14	G	A	16: 34,530,022 (GRCm39)	A482T	probably damaging	Het
Cdh15	G	T	8: 123,593,574 (GRCm39)	A723S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,054 (GRCm39)	S488G	probably damaging	Het
Ddx55	C	A	5: 124,694,883 (GRCm39)	H104N	possibly damaging	Het
Det1	G	T	7: 78,493,257 (GRCm39)	T249N	possibly damaging	Het
Disp3	A	G	4: 148,354,973 (GRCm39)	S348P	possibly damaging	Het
Dnah6	T	G	6: 73,137,896 (GRCm39)	N936T	probably damaging	Het
Dnajc11	A	T	4: 152,054,357 (GRCm39)	N188Y	probably damaging	Het
Etaa1	G	A	11: 17,897,559 (GRCm39)	T186I	possibly damaging	Het
Fhip1a	T	C	3: 85,580,111 (GRCm39)	D698G	probably benign	Het
Ftl1-ps1	T	A	13: 74,555,138 (GRCm39)	V139E	probably benign	Het
Fzd10	A	G	5: 128,679,303 (GRCm39)	K341R	probably benign	Het
Galnt7	A	G	8: 57,985,739 (GRCm39)	Y544H	probably benign	Het
Gm21190	T	A	5: 15,730,814 (GRCm39)	I181F	possibly damaging	Het
Gm3604	T	C	13: 62,517,363 (GRCm39)	N332D	probably damaging	Het
Gm47996	G	T	1: 151,086,055 (GRCm39)	E45D	possibly damaging	Het
Gm5475	T	A	15: 100,321,893 (GRCm39)	L14Q	unknown	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr182	T	C	10: 127,586,783 (GRCm39)	Y56C	probably damaging	Het
Gxylt2	T	A	6: 100,710,188 (GRCm39)	W110R	probably damaging	Het
Hivep3	G	T	4: 119,952,632 (GRCm39)	R316L	possibly damaging	Het
Hnf1a	T	C	5: 115,093,336 (GRCm39)	T310A	probably benign	Het
Igkv6-32	A	G	6: 70,051,547 (GRCm39)	F8L	probably benign	Het
Kcnq1	A	G	7: 142,916,389 (GRCm39)	N550D	probably damaging	Het
Lrrc40	T	G	3: 157,757,419 (GRCm39)	Y249*	probably null	Het
Lrrc43	T	A	5: 123,639,192 (GRCm39)	M407K	probably benign	Het
Mcoln1	T	A	8: 3,558,740 (GRCm39)	I246N	possibly damaging	Het
Msantd5f6	A	T	4: 73,321,759 (GRCm39)	V92E	probably damaging	Het
Myh2	A	G	11: 67,079,536 (GRCm39)	K998E	probably damaging	Het
Myo1b	C	T	1: 51,797,034 (GRCm39)		probably null	Het
Numbl	T	A	7: 26,980,461 (GRCm39)	M481K	possibly damaging	Het
Nxpe4	G	T	9: 48,307,852 (GRCm39)	V319F	probably benign	Het
Pam	C	A	1: 97,813,357 (GRCm39)	D358Y	probably damaging	Het
Papola	A	G	12: 105,775,836 (GRCm39)	M251V	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Prelid2	A	G	18: 42,065,700 (GRCm39)	S112P	probably damaging	Het
Ptgfrn	T	C	3: 100,963,753 (GRCm39)	T620A	probably benign	Het
Ptgfrn	C	T	3: 100,980,257 (GRCm39)	R361Q	probably benign	Het
Pygm	T	A	19: 6,436,072 (GRCm39)	M148K	probably damaging	Het
Ren1	T	A	1: 133,287,812 (GRCm39)	I382N	probably damaging	Het
Rev1	T	C	1: 38,114,097 (GRCm39)		probably benign	Het
Sdsl	T	C	5: 120,598,017 (GRCm39)	K159E	probably benign	Het
Serinc4	T	C	2: 121,285,434 (GRCm39)	N203S	possibly damaging	Het
Slc12a2	A	G	18: 58,012,423 (GRCm39)	H182R	probably benign	Het
Sned1	C	A	1: 93,202,387 (GRCm39)	T677K	possibly damaging	Het
Ston2	G	A	12: 91,710,460 (GRCm39)	T3I	probably damaging	Het
Tnf	T	C	17: 35,420,072 (GRCm39)	T77A	probably benign	Het
Trav6-2	G	A	14: 52,905,126 (GRCm39)	G49E	probably benign	Het
Trav7-4	A	T	14: 53,699,140 (GRCm39)	I96F	probably damaging	Het
Trmu	T	A	15: 85,766,921 (GRCm39)	D43E	probably benign	Het
Uggt1	T	A	1: 36,266,566 (GRCm39)	Q136L	probably damaging	Het
Ugt1a5	T	A	1: 88,094,304 (GRCm39)	Y177*	probably null	Het
Vmn1r126	T	C	7: 21,034,516 (GRCm39)	R293G	probably damaging	Het
Vmn2r89	A	G	14: 51,693,699 (GRCm39)	I350V	probably benign	Het
Vps11	A	T	9: 44,267,529 (GRCm39)	L361Q	probably damaging	Het
Zfp467	A	G	6: 48,420,366 (GRCm39)	L5P	possibly damaging	Het
Zfp652	A	G	11: 95,640,288 (GRCm39)	H71R	probably damaging	Het
Zfp804b	T	C	5: 6,820,082 (GRCm39)	K994E	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
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
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'- CCCCAAATTGCCTCTGAGAAG -3'
(R):5'- AACGTGAGCAAAGAACTTTCCTC -3'

Sequencing Primer
(F):5'- CCAAATTGCCTCTGAGAAGCTGTG -3'
(R):5'- TCCTCTCAAAGGGCTGAATG -3'

Posted On

2020-06-30