Mutagenetix > Incidental Mutation

Incidental Mutation 'R6378:Mapkapk5'

515111

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk5

Ensembl Gene

ENSMUSG00000029454

Gene Name

MAP kinase-activated protein kinase 5

Synonyms

MK5, PRAK

MMRRC Submission

044528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121663114-121683955 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 121677233 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 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 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 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

noncoding transcript
Transcript: ENSMUST00000131914

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

probably null
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

noncoding transcript
Transcript: ENSMUST00000153763

SMART Domains

Protein: ENSMUSP00000119182
Gene: ENSMUSG00000029454

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

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,995,774 (GRCm39)	D408E	probably benign	Het
Agpat2	T	C	2: 26,486,147 (GRCm39)	N178S	probably benign	Het
Arsi	T	C	18: 61,049,573 (GRCm39)	F152S	probably damaging	Het
Atp13a2	T	A	4: 140,734,367 (GRCm39)	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,733,072 (GRCm39)	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 57,095,579 (GRCm39)	L2P	probably damaging	Het
Cby3	A	G	11: 50,250,360 (GRCm39)	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,561 (GRCm39)	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,853,168 (GRCm39)		probably null	Het
Cela1	C	T	15: 100,585,071 (GRCm39)	V20I	probably benign	Het
Cmpk2	G	A	12: 26,519,415 (GRCm39)	G22E	possibly damaging	Het
Ctcf	T	A	8: 106,390,423 (GRCm39)	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,339,468 (GRCm39)	C353F	probably damaging	Het
Efcab3	A	G	11: 104,999,620 (GRCm39)	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,830,420 (GRCm39)	Y10*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eml4	T	A	17: 83,755,646 (GRCm39)	W336R	probably damaging	Het
Erich6	T	C	3: 58,529,780 (GRCm39)		probably null	Het
Eya1	T	C	1: 14,373,027 (GRCm39)	N31D	possibly damaging	Het
Fam81a	T	A	9: 70,017,628 (GRCm39)	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,694,639 (GRCm39)	T487A	possibly damaging	Het
Ganc	T	C	2: 120,264,307 (GRCm39)	M420T	probably damaging	Het
Gimap7	A	T	6: 48,701,116 (GRCm39)	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,570,146 (GRCm39)	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,229,377 (GRCm39)	S98G	probably benign	Het
Hoxd10	T	C	2: 74,524,678 (GRCm39)	I330T	possibly damaging	Het
Ik	T	A	18: 36,890,341 (GRCm39)	I539N	probably damaging	Het
Il17rb	G	A	14: 29,722,320 (GRCm39)	T237I	probably damaging	Het
Ing2	T	A	8: 48,122,293 (GRCm39)	Q85L	probably benign	Het
Lrp4	C	A	2: 91,324,174 (GRCm39)	N1208K	probably benign	Het
Lvrn	T	A	18: 47,028,024 (GRCm39)	S888R	probably benign	Het
Map2	T	C	1: 66,454,488 (GRCm39)	V1126A	probably damaging	Het
Mis18bp1	T	C	12: 65,196,021 (GRCm39)	D581G	probably benign	Het
Muc4	T	C	16: 32,599,320 (GRCm39)	V3289A	probably benign	Het
Myom2	T	A	8: 15,149,356 (GRCm39)	I609N	probably benign	Het
Nav1	A	T	1: 135,382,433 (GRCm39)	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,486,207 (GRCm39)	I302V	probably damaging	Het
Neb	T	A	2: 52,183,733 (GRCm39)	K978N	probably damaging	Het
Nol8	A	G	13: 49,820,831 (GRCm39)	E878G	probably damaging	Het
Nrde2	A	T	12: 100,097,016 (GRCm39)	I928N	probably damaging	Het
Nxf1	T	A	19: 8,741,910 (GRCm39)	D145E	probably benign	Het
Obox3	T	A	7: 15,360,027 (GRCm39)	H214L	probably benign	Het
Obscn	T	C	11: 58,964,572 (GRCm39)	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,093,761 (GRCm39)	E83G	probably benign	Het
Or11a4	T	A	17: 37,536,688 (GRCm39)	V224E	probably benign	Het
Or2r3	T	G	6: 42,448,687 (GRCm39)	M142L	probably benign	Het
Or6b2	A	G	1: 92,408,178 (GRCm39)	L55P	probably damaging	Het
Or8s8	T	C	15: 98,354,425 (GRCm39)	V78A	probably benign	Het
Pcsk4	G	T	10: 80,164,809 (GRCm39)	H69N	probably benign	Het
Plcl2	C	T	17: 50,975,188 (GRCm39)		probably null	Het
Pmfbp1	T	C	8: 110,256,898 (GRCm39)	I534T	probably damaging	Het
Prss23	A	T	7: 89,159,241 (GRCm39)	I276N	probably damaging	Het
Ramac	A	G	7: 81,417,387 (GRCm39)	Y29C	probably damaging	Het
Rhd	T	A	4: 134,621,696 (GRCm39)	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scg5	A	G	2: 113,657,737 (GRCm39)	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,315,102 (GRCm39)	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,610,245 (GRCm39)	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,894,613 (GRCm39)	L486*	probably null	Het
Slc25a47	G	A	12: 108,822,069 (GRCm39)	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,740,916 (GRCm39)	K277T	probably damaging	Het
Slc66a3	T	C	12: 17,047,644 (GRCm39)	Y96C	probably damaging	Het
Sorcs1	T	A	19: 50,213,615 (GRCm39)	E704V	possibly damaging	Het
Sptan1	T	C	2: 29,908,527 (GRCm39)	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,328,378 (GRCm39)		probably null	Het
Sytl2	A	T	7: 90,007,432 (GRCm39)	K65*	probably null	Het
Tas2r109	T	G	6: 132,957,844 (GRCm39)	I29L	probably benign	Het
Tfap2a	A	T	13: 40,876,717 (GRCm39)	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,325,679 (GRCm39)	L128F	probably benign	Het
Trappc12	A	T	12: 28,797,082 (GRCm39)	L150Q	probably damaging	Het
Trim43b	T	A	9: 88,967,452 (GRCm39)	I395L	probably benign	Het
U2surp	C	T	9: 95,373,474 (GRCm39)	E232K	probably benign	Het
Vax1	T	C	19: 59,154,656 (GRCm39)	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,210,587 (GRCm39)	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,547,782 (GRCm39)	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,498,667 (GRCm39)	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,182,517 (GRCm39)	G394D	probably damaging	Het
Ybx2	A	G	11: 69,831,179 (GRCm39)	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,308,410 (GRCm39)	N545K	probably benign	Het
Zp1	T	C	19: 10,892,217 (GRCm39)	T56A	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
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
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'- CTTAAGAGTGTCCCTGCTCC -3'
(R):5'- CCTGCTGCTGTAGGGAAAGTTG -3'

Sequencing Primer
(F):5'- GTCCCTGCTCCTCCAGAAGAC -3'
(R):5'- GAAAGTTGTTTGTACTCATTTGCC -3'

Posted On

2018-05-04