Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Mapkapk2'

537929

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk2

Ensembl Gene

ENSMUSG00000016528

Gene Name

MAP kinase-activated protein kinase 2

Synonyms

MAPKAP kinase 2, Rps6kc1, MK2

MMRRC Submission

044946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130981437-131025563 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 130985740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 95 (K95*)

Ref Sequence

ENSEMBL: ENSMUSP00000141124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016672] [ENSMUST00000188459]

AlphaFold

P49138

Predicted Effect

probably null
Transcript: ENSMUST00000016672
AA Change: K174*

SMART Domains

Protein: ENSMUSP00000016672
Gene: ENSMUSG00000016528
AA Change: K174*

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
S_TKc	50	311	1.26e-93	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188459
AA Change: K95*

SMART Domains

Protein: ENSMUSP00000141124
Gene: ENSMUSG00000016528
AA Change: K95*

Domain	Start	End	E-Value	Type
S_TKc	1	160	4.5e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

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 Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus affects the inflammatory response. Homozygous null mice show an increased susceptibility to bacterial infection. [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
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Aqp9	T	A	9: 71,019,498 (GRCm39)	M321L	probably benign	Het
Avil	G	A	10: 126,849,431 (GRCm39)	D576N	probably benign	Het
Bbs1	C	T	19: 4,953,880 (GRCm39)	M94I	possibly damaging	Het
Bms1	A	G	6: 118,393,455 (GRCm39)	V139A	probably benign	Het
Bscl2	A	T	19: 8,818,745 (GRCm39)	M57L	probably damaging	Het
C2cd5	A	G	6: 142,975,364 (GRCm39)	I794T	possibly damaging	Het
Cacna1s	C	T	1: 136,012,175 (GRCm39)	T539I	possibly damaging	Het
Cand1	T	C	10: 119,045,935 (GRCm39)	K990R	probably benign	Het
Capn7	A	G	14: 31,076,130 (GRCm39)	I311V	possibly damaging	Het
Cd180	A	G	13: 102,839,239 (GRCm39)	N41D	probably benign	Het
Cdin1	T	C	2: 115,607,471 (GRCm39)	F275L	possibly damaging	Het
Celsr1	G	A	15: 85,823,395 (GRCm39)	T1671I	probably benign	Het
Cep135	A	T	5: 76,780,062 (GRCm39)	Q798L	probably damaging	Het
Cfap65	T	C	1: 74,971,180 (GRCm39)	D46G	probably benign	Het
Cracd	A	T	5: 77,006,056 (GRCm39)	T806S	unknown	Het
Ddx46	G	T	13: 55,787,748 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,230,948 (GRCm39)	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,929,525 (GRCm39)	E1402G	probably damaging	Het
Dock9	A	G	14: 121,784,008 (GRCm39)	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,236,323 (GRCm39)	D50G	probably benign	Het
Evi5	G	T	5: 107,990,027 (GRCm39)	T64K	possibly damaging	Het
Frem3	A	C	8: 81,338,660 (GRCm39)	T318P	probably damaging	Het
Gpx1	A	G	9: 108,217,139 (GRCm39)	D81G	possibly damaging	Het
Gramd1a	T	C	7: 30,833,929 (GRCm39)	I499V	probably benign	Het
H4c12	A	T	13: 21,934,375 (GRCm39)	F101I	probably damaging	Het
Herc2	T	A	7: 55,758,526 (GRCm39)	D804E	probably damaging	Het
Hk1	T	C	10: 62,107,437 (GRCm39)	E846G	probably damaging	Het
Iars2	G	A	1: 185,061,342 (GRCm39)	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278 (GRCm39)	T10M	possibly damaging	Het
Ism2	A	T	12: 87,326,975 (GRCm39)	D321E	probably benign	Het
Itpr1	T	C	6: 108,448,152 (GRCm39)	S231P	possibly damaging	Het
Kif17	A	T	4: 138,005,710 (GRCm39)		probably null	Het
Lvrn	A	G	18: 47,023,947 (GRCm39)	I765V	possibly damaging	Het
Map4k4	T	A	1: 40,015,882 (GRCm39)	C108S	probably damaging	Het
Mapk13	G	T	17: 28,996,535 (GRCm39)		probably null	Het
Mau2	A	T	8: 70,491,947 (GRCm39)		probably null	Het
Mex3a	A	G	3: 88,444,084 (GRCm39)	T387A	probably benign	Het
Myo5a	T	C	9: 75,061,165 (GRCm39)		probably null	Het
Ncbp3	A	T	11: 72,964,300 (GRCm39)	M417L	possibly damaging	Het
Nod2	A	C	8: 89,397,086 (GRCm39)	E810A	possibly damaging	Het
Nol3	A	T	8: 106,006,207 (GRCm39)	E152V	probably damaging	Het
Obox6	T	C	7: 15,567,664 (GRCm39)	E261G	possibly damaging	Het
Or2h1	A	T	17: 37,404,058 (GRCm39)	L236*	probably null	Het
Or8b12b	A	C	9: 37,684,348 (GRCm39)	Y131S	possibly damaging	Het
P3h2	T	C	16: 25,924,034 (GRCm39)	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,487,222 (GRCm39)	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,097,137 (GRCm39)	S250L	possibly damaging	Het
Rab38	A	G	7: 88,099,917 (GRCm39)	D144G	possibly damaging	Het
Septin1	T	C	7: 126,815,894 (GRCm39)	M176V	probably benign	Het
Spata22	C	T	11: 73,236,759 (GRCm39)	T355M	probably benign	Het
Tango6	A	G	8: 107,468,706 (GRCm39)	N734S	probably benign	Het
Tbc1d17	C	A	7: 44,493,738 (GRCm39)	R295L	probably damaging	Het
Thsd7a	G	T	6: 12,504,074 (GRCm39)	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnnt1	T	C	7: 4,510,406 (GRCm39)	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,131,279 (GRCm39)	M250L	probably benign	Het
Urb1	T	A	16: 90,578,994 (GRCm39)	D689V	possibly damaging	Het
Usp28	T	A	9: 48,911,730 (GRCm39)		probably null	Het
Vldlr	G	A	19: 27,225,370 (GRCm39)	D816N	probably damaging	Het
Vmn1r257	T	A	7: 22,391,142 (GRCm39)	M201L	probably benign	Het
Wdr1	A	G	5: 38,687,374 (GRCm39)	V219A	probably damaging	Het
Xndc1	T	C	7: 101,722,476 (GRCm39)	V47A	possibly damaging	Het
Zfp366	C	T	13: 99,365,015 (GRCm39)	P59S	possibly damaging	Het
Zfp366	A	G	13: 99,382,685 (GRCm39)	E616G	possibly damaging	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	Het

Other mutations in Mapkapk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Mapkapk2	APN	1	130,986,499 (GRCm39)	start codon destroyed	probably null
R0015:Mapkapk2	UTSW	1	131,025,063 (GRCm39)	missense	possibly damaging	0.79
R0318:Mapkapk2	UTSW	1	131,025,072 (GRCm39)	missense	probably damaging	0.99
R1234:Mapkapk2	UTSW	1	130,983,513 (GRCm39)	nonsense	probably null
R1755:Mapkapk2	UTSW	1	130,986,087 (GRCm39)	critical splice donor site	probably null
R1765:Mapkapk2	UTSW	1	130,986,498 (GRCm39)	start codon destroyed	probably null	0.09
R3907:Mapkapk2	UTSW	1	130,984,651 (GRCm39)	missense	probably damaging	1.00
R5949:Mapkapk2	UTSW	1	130,985,742 (GRCm39)	missense	possibly damaging	0.95
R7445:Mapkapk2	UTSW	1	131,025,256 (GRCm39)	missense	unknown
R7802:Mapkapk2	UTSW	1	130,984,639 (GRCm39)	missense	possibly damaging	0.51
R7839:Mapkapk2	UTSW	1	131,025,256 (GRCm39)	missense	unknown
R8710:Mapkapk2	UTSW	1	130,986,448 (GRCm39)	missense	possibly damaging	0.81
R8773:Mapkapk2	UTSW	1	130,983,679 (GRCm39)	missense	probably damaging	0.97
RF002:Mapkapk2	UTSW	1	130,984,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCCATGTGTGGGACGGTG -3'
(R):5'- TTTGAAGGGCCCTGTCACAG -3'

Sequencing Primer
(F):5'- ACGGTGAGGTGCTGACG -3'
(R):5'- TTAGCCATGGCAGGGTCAG -3'

Posted On

2018-10-18