Mutagenetix > Incidental Mutation

Incidental Mutation 'R8531:Map2k6'

659059

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

068501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8531 (G1)

Quality Score

180.009

Status

Not validated

Chromosome

Chromosomal Location

110289948-110416348 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 110290175 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,622 (GRCm39)	R1506S	probably benign	Het
Acox2	T	C	14: 8,247,960 (GRCm38)	T441A	probably damaging	Het
Adam6a	A	G	12: 113,508,917 (GRCm39)	E430G	probably damaging	Het
Afg3l2	T	C	18: 67,540,439 (GRCm39)	E690G	probably damaging	Het
Alb	A	G	5: 90,611,873 (GRCm39)	I101V	probably benign	Het
Arhgef19	T	C	4: 140,976,903 (GRCm39)	I493T	possibly damaging	Het
Btnl2	T	C	17: 34,577,028 (GRCm39)	M61T	probably benign	Het
Cyp2d11	A	G	15: 82,273,429 (GRCm39)	Y481H	probably benign	Het
Dennd4c	T	C	4: 86,744,319 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,334,182 (GRCm39)	V993F	possibly damaging	Het
Dlk1	A	G	12: 109,424,066 (GRCm39)	Q110R	probably null	Het
Dmp1	A	C	5: 104,360,269 (GRCm39)	D315A	probably damaging	Het
Dnah3	T	C	7: 119,550,591 (GRCm39)	K3243E	probably damaging	Het
Dsc3	T	C	18: 20,101,449 (GRCm39)	N648S	probably benign	Het
Dsc3	C	T	18: 20,114,274 (GRCm39)	D327N	probably damaging	Het
Egr4	T	C	6: 85,489,106 (GRCm39)	D318G	probably damaging	Het
Fiz1	A	T	7: 5,012,163 (GRCm39)	C118*	probably null	Het
Flad1	A	C	3: 89,310,517 (GRCm39)	Y479D	probably damaging	Het
Flnb	T	C	14: 7,929,939 (GRCm38)	F2023S	probably damaging	Het
Glp1r	T	C	17: 31,143,531 (GRCm39)	L189P	probably damaging	Het
Grm5	A	T	7: 87,779,724 (GRCm39)	T1055S	probably benign	Het
Gucy1a1	A	G	3: 82,018,468 (GRCm39)	I123T	probably benign	Het
Ifnar1	T	A	16: 91,292,344 (GRCm39)	C199*	probably null	Het
Lepr	A	T	4: 101,622,612 (GRCm39)	Y464F	probably damaging	Het
Mamdc4	G	T	2: 25,457,730 (GRCm39)	Q452K	possibly damaging	Het
Mphosph10	T	C	7: 64,034,076 (GRCm39)	I429V	possibly damaging	Het
Neb	T	A	2: 52,181,074 (GRCm39)	M1178L	possibly damaging	Het
Nherf4	T	C	9: 44,159,670 (GRCm39)	E442G	probably damaging	Het
Npc2	C	A	12: 84,807,612 (GRCm39)	R82L	probably benign	Het
Olfm5	A	T	7: 103,803,029 (GRCm39)	M478K	probably benign	Het
Or5aq6	G	T	2: 86,923,670 (GRCm39)	Q24K	probably benign	Het
Or5k14	A	C	16: 58,693,016 (GRCm39)	L166V	probably damaging	Het
Osbpl9	T	C	4: 109,013,908 (GRCm39)	D62G	probably damaging	Het
Otog	C	T	7: 45,901,473 (GRCm39)	R391C	probably damaging	Het
Plppr4	T	C	3: 117,115,592 (GRCm39)	Y755C	probably damaging	Het
Pnpla8	T	A	12: 44,358,368 (GRCm39)	F708I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,932 (GRCm39)	T213S	probably benign	Het
Pramel27	T	A	4: 143,579,601 (GRCm39)	D395E	probably benign	Het
Rabep1	T	C	11: 70,799,332 (GRCm39)	S278P	probably benign	Het
Rigi	A	G	4: 40,225,596 (GRCm39)		probably null	Het
Rnf213	C	G	11: 119,365,031 (GRCm39)	Q4563E	probably benign	Het
Rttn	C	A	18: 89,131,467 (GRCm39)	R1949S	probably benign	Het
Rwdd3	T	C	3: 120,952,788 (GRCm39)	I140V	probably benign	Het
Serpinb6a	A	T	13: 34,115,462 (GRCm39)	M53K	probably damaging	Het
Serpinb9g	A	T	13: 33,676,896 (GRCm39)	D226V	possibly damaging	Het
Serpind1	A	T	16: 17,160,847 (GRCm39)	Y459F	probably damaging	Het
Skor2	T	C	18: 76,946,569 (GRCm39)	V97A	unknown	Het
Slc26a4	C	T	12: 31,599,911 (GRCm39)		probably null	Het
Slc4a10	T	C	2: 62,097,851 (GRCm39)	Y517H	probably damaging	Het
Sphkap	A	G	1: 83,254,909 (GRCm39)	W947R	probably damaging	Het
Sult3a2	T	C	10: 33,653,239 (GRCm39)	D167G	probably damaging	Het
Supt16	A	T	14: 52,410,020 (GRCm39)	M729K	probably damaging	Het
Tmem176b	A	G	6: 48,811,538 (GRCm39)	I37T	possibly damaging	Het
Tmem259	A	G	10: 79,813,819 (GRCm39)	V423A	probably damaging	Het
Tmem62	G	T	2: 120,837,533 (GRCm39)	L483F	probably damaging	Het
Tnfrsf13b	T	C	11: 61,031,777 (GRCm39)		probably null	Het
Tut7	A	T	13: 59,937,074 (GRCm39)	I1191K	probably damaging	Het
Txk	C	A	5: 72,893,720 (GRCm39)	C20F	possibly damaging	Het
Ube2w	A	C	1: 16,672,542 (GRCm39)	N46K	probably benign	Het
Unc79	A	T	12: 103,013,922 (GRCm39)	H300L	probably damaging	Het
Unc79	T	A	12: 103,049,855 (GRCm39)	H920Q	probably benign	Het
Vmn1r16	A	G	6: 57,299,900 (GRCm39)	Y241H	probably damaging	Het
Vmn2r100	A	T	17: 19,742,459 (GRCm39)	I278F	possibly damaging	Het
Zfp260	T	A	7: 29,804,884 (GRCm39)	H261Q	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
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
R8093:Map2k6	UTSW	11	110,373,411 (GRCm39)	missense	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'- GCGCACTAAGATACTCAGTTCC -3'
(R):5'- ACTGAGCTGTGGCAAACCTC -3'

Sequencing Primer
(F):5'- TGGCCCATCATGTAGCTGCAG -3'
(R):5'- TCAAACTTAAAAATGCAATCGCCGG -3'

Posted On

2021-01-18