Mutagenetix > Incidental Mutation

Incidental Mutation 'R5422:Mapkapk5'

426630

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk5

Ensembl Gene

ENSMUSG00000029454

Gene Name

MAP kinase-activated protein kinase 5

Synonyms

MK5, PRAK

MMRRC Submission

042846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121663114-121683955 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 121669785 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] [ENSMUST00000200170] [ENSMUST00000196315]

AlphaFold

O54992

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000111781

SMART Domains

Protein: ENSMUSP00000107411
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	200	1.9e-15	PFAM
Pfam:Pkinase	1	203	1.2e-48	PFAM
coiled coil region	308	333	N/A	INTRINSIC

Predicted Effect

probably null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000122152

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

noncoding transcript
Transcript: ENSMUST00000153763

SMART Domains

Protein: ENSMUSP00000119182
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
S_TKc	22	304	8.22e-84	SMART

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126524

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: ENSMUST00000151352

Predicted Effect

probably benign
Transcript: ENSMUST00000152270

SMART Domains

Protein: ENSMUSP00000116464
Gene: ENSMUSG00000029454

Domain	Start	End	E-Value	Type
coiled coil region	49	74	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,425,606 (GRCm39)	S1219G	probably benign	Het
Adgrg5	T	A	8: 95,660,580 (GRCm39)	I73N	probably damaging	Het
Agmat	C	A	4: 141,483,144 (GRCm39)	H193N	probably damaging	Het
Ambn	T	C	5: 88,612,370 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,366,644 (GRCm39)	C803S	probably benign	Het
Btaf1	A	T	19: 36,928,507 (GRCm39)	R109S	probably benign	Het
Btnl6	C	T	17: 34,733,081 (GRCm39)	G261R	possibly damaging	Het
Clk3	A	G	9: 57,672,721 (GRCm39)	V27A	probably benign	Het
Clu	A	G	14: 66,213,051 (GRCm39)	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,338,528 (GRCm39)	F43L	probably benign	Het
Elf3	C	T	1: 135,182,778 (GRCm39)	E316K	probably damaging	Het
Epha5	A	T	5: 84,479,349 (GRCm39)	D218E	probably damaging	Het
Ereg	T	C	5: 91,222,666 (GRCm39)		probably null	Het
Ewsr1	A	G	11: 5,030,668 (GRCm39)		probably benign	Het
Fat4	A	G	3: 38,941,394 (GRCm39)	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,580,808 (GRCm39)	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,625,989 (GRCm39)		probably null	Het
Fn3k	C	A	11: 121,340,948 (GRCm39)	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,812,572 (GRCm39)	I2964V	probably benign	Het
Gbx1	C	T	5: 24,709,667 (GRCm39)	V393I	possibly damaging	Het
Gch1	C	T	14: 47,394,906 (GRCm39)	A187T	probably damaging	Het
Ghdc	C	A	11: 100,660,020 (GRCm39)	K242N	probably benign	Het
Ghrhr	A	G	6: 55,365,188 (GRCm39)	H394R	probably benign	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,442,208 (GRCm39)	S236R	probably benign	Het
Kcnj5	A	G	9: 32,229,001 (GRCm39)	Y66H	probably benign	Het
Kif15	T	A	9: 122,813,954 (GRCm39)		probably null	Het
Magi3	C	T	3: 103,958,684 (GRCm39)	C467Y	probably damaging	Het
Map7	G	T	10: 20,142,512 (GRCm39)	V303F	probably damaging	Het
Mapk11	A	G	15: 89,030,488 (GRCm39)	L135P	probably damaging	Het
Myh7b	A	C	2: 155,472,954 (GRCm39)	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,752,777 (GRCm39)	I328N	probably damaging	Het
Nprl2	C	A	9: 107,420,796 (GRCm39)	R144S	probably benign	Het
Ogfr	G	T	2: 180,237,067 (GRCm39)	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,237,068 (GRCm39)	D551V	probably benign	Het
Or6b13	A	T	7: 139,782,305 (GRCm39)	V126E	probably damaging	Het
Or8c10	A	T	9: 38,279,270 (GRCm39)	T143S	probably benign	Het
Parp14	T	C	16: 35,686,545 (GRCm39)	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,612,920 (GRCm39)	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,575,502 (GRCm39)	G303S	probably benign	Het
Plcl1	A	T	1: 55,736,543 (GRCm39)	Y628F	probably benign	Het
Ptpn9	T	A	9: 56,940,441 (GRCm39)	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,573,102 (GRCm39)	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,065,095 (GRCm39)	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,108,911 (GRCm39)	R218L	possibly damaging	Het
Scart1	A	T	7: 139,804,068 (GRCm39)	H422L	probably benign	Het
Serpine2	C	A	1: 79,794,592 (GRCm39)	V114L	probably benign	Het
Serpine2	T	C	1: 79,799,206 (GRCm39)	Y16C	probably benign	Het
Sgms1	G	T	19: 32,137,232 (GRCm39)	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,498,292 (GRCm39)	M1K	probably null	Het
Tcf12	A	T	9: 71,776,320 (GRCm39)	H403Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,512 (GRCm39)	I678T	probably damaging	Het
Thsd7b	T	C	1: 129,849,071 (GRCm39)	S928P	probably benign	Het
Tjp1	A	T	7: 64,952,715 (GRCm39)	F1540I	probably damaging	Het
Tph2	T	A	10: 114,915,669 (GRCm39)	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676 (GRCm39)	I2112V	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp335	T	C	2: 164,749,650 (GRCm39)	K249R	probably damaging	Het
Zfp54	C	A	17: 21,654,788 (GRCm39)	S427R	probably benign	Het
Zfp607b	A	G	7: 27,401,813 (GRCm39)	T90A	probably benign	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
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
R7360:Mapkapk5	UTSW	5	121,675,169 (GRCm39)	splice site	probably benign
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'- AGCCCGAGACTTACTTCCTCAC -3'
(R):5'- TTACATGTACCCAGCAGTGG -3'

Sequencing Primer
(F):5'- ACAACATCTTTAGCCATCTCTGAG -3'
(R):5'- ATGTACCCAGCAGTGGTTCTCTG -3'

Posted On

2016-09-01