Mutagenetix > Incidental Mutation

Incidental Mutation 'R7360:Mapkapk5'

596108

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk5

Ensembl Gene

ENSMUSG00000029454

Gene Name

MAP kinase-activated protein kinase 5

Synonyms

MK5, PRAK

MMRRC Submission

045446-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121663114-121683955 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 121675169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031410] [ENSMUST00000111782] [ENSMUST00000111783] [ENSMUST00000111786] [ENSMUST00000125946] [ENSMUST00000196315] [ENSMUST00000200170]

AlphaFold

O54992

Predicted Effect

probably benign
Transcript: ENSMUST00000031410

SMART Domains

Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
S_TKc	22	304	8.22e-84	SMART
coiled coil region	409	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111782

SMART Domains

Protein: ENSMUSP00000107412
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	155	3.7e-27	PFAM
coiled coil region	258	283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111783

SMART Domains

Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
S_TKc	22	304	8.22e-84	SMART
coiled coil region	407	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111786

SMART Domains

Protein: ENSMUSP00000107416
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	155	3.8e-27	PFAM
coiled coil region	260	285	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125946

SMART Domains

Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340

Domain	Start	End	E-Value	Type
S_TKc	22	304	5.3e-84	SMART
coiled coil region	407	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151352

Predicted Effect

probably benign
Transcript: ENSMUST00000196315

SMART Domains

Protein: ENSMUSP00000142346
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
STYKc	22	179	4.1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200170

SMART Domains

Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647

Domain	Start	End	E-Value	Type
S_TKc	22	304	8.22e-84	SMART
coiled coil region	407	432	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutant mice are viable, fertile, and show no overt abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	C	4: 106,606,548 (GRCm39)	P534A	possibly damaging	Het
Arhgef26	T	A	3: 62,355,626 (GRCm39)	Y733N	possibly damaging	Het
Aste1	G	T	9: 105,274,835 (GRCm39)	M358I	probably damaging	Het
B4galnt3	C	T	6: 120,209,940 (GRCm39)	W61*	probably null	Het
Brd9	C	T	13: 74,092,942 (GRCm39)	R311W	probably benign	Het
Cdkn1c	T	C	7: 143,014,431 (GRCm39)	D5G	possibly damaging	Het
Cerk	A	G	15: 86,043,327 (GRCm39)	F158S	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cnot4	T	A	6: 35,041,941 (GRCm39)	E235V	probably damaging	Het
Crmp1	T	C	5: 37,433,624 (GRCm39)	V275A	possibly damaging	Het
Dcbld2	C	A	16: 58,285,683 (GRCm39)		probably null	Het
Dip2a	T	C	10: 76,114,394 (GRCm39)	R1029G	probably damaging	Het
Dnaaf1	A	G	8: 120,304,090 (GRCm39)	T43A	probably benign	Het
Eaf2	C	T	16: 36,648,514 (GRCm39)	S2N	probably benign	Het
Eif2b4	T	C	5: 31,348,719 (GRCm39)	D164G	probably benign	Het
Fpgs	T	C	2: 32,584,005 (GRCm39)	Y45C	possibly damaging	Het
Gm1527	C	T	3: 28,968,691 (GRCm39)	Q248*	probably null	Het
Gm29666	C	T	15: 84,798,469 (GRCm39)	A31T	unknown	Het
Gmip	C	A	8: 70,263,892 (GRCm39)	A112D	probably damaging	Het
Hibadh	C	T	6: 52,617,197 (GRCm39)	G13S	probably benign	Het
Hmcn1	A	T	1: 150,494,597 (GRCm39)	V4164D	probably damaging	Het
Kif15	A	T	9: 122,820,202 (GRCm39)	N580I	probably benign	Het
Krt25	G	A	11: 99,208,232 (GRCm39)	T332M	probably benign	Het
Krt88	G	T	15: 101,345,643 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,615,858 (GRCm39)		probably null	Het
Myh7b	C	T	2: 155,474,460 (GRCm39)	S1725L	probably benign	Het
Nckap1l	T	G	15: 103,384,526 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,893,277 (GRCm39)		probably null	Het
Obscn	A	C	11: 58,973,185 (GRCm39)	V1996G	probably damaging	Het
Or14j8	T	A	17: 38,263,900 (GRCm39)	N5I	probably damaging	Het
Or4a66	A	T	2: 88,531,331 (GRCm39)	V114E	probably damaging	Het
Parp8	T	C	13: 117,032,307 (GRCm39)	T289A	probably benign	Het
Pcsk5	T	C	19: 17,492,577 (GRCm39)	K932R	probably benign	Het
Pde4dip	T	C	3: 97,625,632 (GRCm39)	D1322G	probably benign	Het
Peli3	A	T	19: 4,985,103 (GRCm39)	M136K	possibly damaging	Het
Pgm5	A	G	19: 24,812,181 (GRCm39)	I117T	probably damaging	Het
Ppm1g	T	C	5: 31,360,621 (GRCm39)	D478G	probably damaging	Het
Ppp2r5c	A	G	12: 110,541,272 (GRCm39)	T474A	probably benign	Het
Ptger3	T	C	3: 157,272,764 (GRCm39)	V37A	probably benign	Het
Ptprz1	T	C	6: 23,000,906 (GRCm39)	S999P	probably damaging	Het
Pygl	C	T	12: 70,274,306 (GRCm39)	G18S	probably benign	Het
Rest	T	C	5: 77,428,976 (GRCm39)	V465A	probably benign	Het
Sart1	T	C	19: 5,433,231 (GRCm39)	D422G	probably damaging	Het
Sgk1	A	G	10: 21,869,972 (GRCm39)	M4V	probably benign	Het
Slc33a1	A	G	3: 63,855,075 (GRCm39)	V395A	possibly damaging	Het
Slc38a11	A	T	2: 65,184,139 (GRCm39)	S171T	possibly damaging	Het
Slc4a2	T	A	5: 24,634,713 (GRCm39)	S76T	probably benign	Het
Spata31h1	T	C	10: 82,132,341 (GRCm39)	D223G	unknown	Het
Ssc4d	T	A	5: 135,994,965 (GRCm39)	S184C	probably damaging	Het
Tspoap1	A	G	11: 87,669,347 (GRCm39)	Y1540C	probably benign	Het
Ube3a	T	A	7: 58,926,383 (GRCm39)	L408Q	probably damaging	Het
Usp43	C	A	11: 67,767,155 (GRCm39)		probably null	Het
Zan	A	C	5: 137,385,232 (GRCm39)	V5067G	unknown	Het
Zfp180	C	A	7: 23,804,915 (GRCm39)	L445I	probably damaging	Het

Other mutations in Mapkapk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mapkapk5	APN	5	121,675,166 (GRCm39)	splice site	probably benign
R1015:Mapkapk5	UTSW	5	121,671,425 (GRCm39)	missense	probably benign	0.17
R2180:Mapkapk5	UTSW	5	121,673,927 (GRCm39)	splice site	probably null
R4445:Mapkapk5	UTSW	5	121,663,291 (GRCm39)	missense	probably benign
R4539:Mapkapk5	UTSW	5	121,675,218 (GRCm39)	missense	possibly damaging	0.82
R5217:Mapkapk5	UTSW	5	121,672,492 (GRCm39)	missense	probably damaging	1.00
R5229:Mapkapk5	UTSW	5	121,671,454 (GRCm39)	critical splice acceptor site	probably null
R5422:Mapkapk5	UTSW	5	121,669,785 (GRCm39)	critical splice acceptor site	probably null
R5963:Mapkapk5	UTSW	5	121,676,544 (GRCm39)	missense	probably damaging	1.00
R6378:Mapkapk5	UTSW	5	121,677,233 (GRCm39)	critical splice donor site	probably null
R7021:Mapkapk5	UTSW	5	121,665,274 (GRCm39)	missense	probably benign	0.02
R7303:Mapkapk5	UTSW	5	121,678,637 (GRCm39)	missense	probably benign	0.02
R7432:Mapkapk5	UTSW	5	121,675,234 (GRCm39)	missense	possibly damaging	0.56
R7848:Mapkapk5	UTSW	5	121,683,232 (GRCm39)	missense	probably benign	0.01
R7973:Mapkapk5	UTSW	5	121,663,776 (GRCm39)	missense	possibly damaging	0.92
R8736:Mapkapk5	UTSW	5	121,665,241 (GRCm39)	missense	possibly damaging	0.50
R9561:Mapkapk5	UTSW	5	121,672,490 (GRCm39)	missense	probably benign	0.32
RF016:Mapkapk5	UTSW	5	121,671,379 (GRCm39)	missense	probably damaging	1.00
Z1088:Mapkapk5	UTSW	5	121,669,654 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TCCCAAAGTATAAAGGGTCAGTGG -3'
(R):5'- CACAGTGGCTGCATACTTTG -3'

Sequencing Primer
(F):5'- CAGTGGCACTTTTAGGAAGATGTC -3'
(R):5'- GGCTGCATACTTTGTAGATGACATC -3'

Posted On

2019-11-18