Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Mapkapk5'

471869

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk5

Ensembl Gene

ENSMUSG00000029454

Gene Name

MAP kinase-activated protein kinase 5

Synonyms

PRAK, MK5

MMRRC Submission

044148-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5963 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

121525038-121545905 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121538481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 66 (H66N)

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 damaging
Transcript: ENSMUST00000031410
AA Change: H66N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
AA Change: H66N

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 damaging
Transcript: ENSMUST00000111783
AA Change: H66N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
AA Change: H66N

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 damaging
Transcript: ENSMUST00000125946
AA Change: H66N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
AA Change: H66N

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 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196315
AA Change: H66N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142346
Gene: ENSMUSG00000029454
AA Change: H66N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200170
AA Change: H66N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
AA Change: H66N

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

0.3806

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,379,830	K131E	probably benign	Het
Ank3	T	A	10: 69,987,226	L575*	probably null	Het
Aqr	T	C	2: 114,126,961	T819A	probably damaging	Het
Bbs2	A	T	8: 94,081,031	S407T	probably benign	Het
Bmper	T	A	9: 23,375,593	C272S	probably benign	Het
Btbd9	C	T	17: 30,334,218		probably null	Het
C5ar1	A	G	7: 16,248,822	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,575,757	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,745,574	V1451E	probably benign	Het
Cfap46	T	A	7: 139,651,595	M901L	probably damaging	Het
Cherp	G	T	8: 72,461,535		probably benign	Het
D430041D05Rik	C	T	2: 104,248,285	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,010,547	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,444,173	F243L	probably damaging	Het
Garem1	T	A	18: 21,129,430	I776F	probably benign	Het
Gpr87	T	A	3: 59,179,269	R272*	probably null	Het
Gsdmc	A	T	15: 63,780,116		probably null	Het
Hydin	T	A	8: 110,494,294	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,872,912	C63*	probably null	Het
Kdm4b	A	T	17: 56,399,732	T908S	probably damaging	Het
Lipn	A	G	19: 34,081,300	D304G	probably damaging	Het
Man2a1	T	G	17: 64,675,122	N544K	probably benign	Het
Mog	G	A	17: 37,012,348	R233*	probably null	Het
Mrps24	A	T	11: 5,707,481		probably benign	Het
Nom1	T	C	5: 29,437,770	L423P	probably damaging	Het
Olfr65	T	A	7: 103,906,961	V174E	probably benign	Het
Pcdha1	T	A	18: 36,931,171	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,526,394	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,526,395	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,403,958	V63D	probably damaging	Het
Pnn	C	T	12: 59,067,831	R56*	probably null	Het
Primpol	T	A	8: 46,593,580	E227V	possibly damaging	Het
Rad54l	A	T	4: 116,110,387	W233R	probably damaging	Het
Rims2	A	T	15: 39,437,182	D103V	probably damaging	Het
Rttn	T	C	18: 89,073,695	S1511P	probably benign	Het
Sept5	T	C	16: 18,624,212		probably null	Het
Simc1	T	A	13: 54,525,819	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,079,693	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,682,036	S55G	possibly damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slitrk3	A	G	3: 73,050,713	V242A	probably benign	Het
St14	A	T	9: 31,106,557		probably benign	Het
Tnnt2	T	C	1: 135,843,862		probably benign	Het
Traf5	G	A	1: 192,000,016	T288I	probably benign	Het
Trerf1	C	T	17: 47,314,337		noncoding transcript	Het
Vegfc	A	G	8: 54,181,284	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,008,609	I209F	probably damaging	Het
Vps51	A	G	19: 6,068,290	L725P	probably damaging	Het
Vps8	T	C	16: 21,470,121	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,145,028	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,941,092	E164G	probably damaging	Het
Zcchc14	A	T	8: 121,628,623		probably benign	Het
Zfp383	A	G	7: 29,915,678	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,776,953	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,695,895		probably benign	Het

Other mutations in Mapkapk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Mapkapk5	APN	5	121537103	splice site	probably benign
R1015:Mapkapk5	UTSW	5	121533362	missense	probably benign	0.17
R2180:Mapkapk5	UTSW	5	121535864	splice site	probably null
R4445:Mapkapk5	UTSW	5	121525228	missense	probably benign
R4539:Mapkapk5	UTSW	5	121537155	missense	possibly damaging	0.82
R5217:Mapkapk5	UTSW	5	121534429	missense	probably damaging	1.00
R5229:Mapkapk5	UTSW	5	121533391	critical splice acceptor site	probably null
R5422:Mapkapk5	UTSW	5	121531722	critical splice acceptor site	probably null
R6378:Mapkapk5	UTSW	5	121539170	critical splice donor site	probably null
R7021:Mapkapk5	UTSW	5	121527211	missense	probably benign	0.02
R7303:Mapkapk5	UTSW	5	121540574	missense	probably benign	0.02
R7360:Mapkapk5	UTSW	5	121537106	splice site	probably benign
R7432:Mapkapk5	UTSW	5	121537171	missense	possibly damaging	0.56
R7848:Mapkapk5	UTSW	5	121545169	missense	probably benign	0.01
R7973:Mapkapk5	UTSW	5	121525713	missense	possibly damaging	0.92
R8736:Mapkapk5	UTSW	5	121527178	missense	possibly damaging	0.50
R9561:Mapkapk5	UTSW	5	121534427	missense	probably benign	0.32
RF016:Mapkapk5	UTSW	5	121533316	missense	probably damaging	1.00
Z1088:Mapkapk5	UTSW	5	121531591	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AAATAAGATTCCCCAGGGGCTG -3'
(R):5'- AGATGGTCTGGACACTTTGG -3'

Sequencing Primer
(F):5'- TCAGCTTTTACAACACGAGAGAG -3'
(R):5'- GACTTAGCATGGTCAGGTTT -3'

Posted On

2017-03-31