Mutagenetix > Incidental Mutation

Incidental Mutation 'R2180:Mapkapk5'

237114

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk5

Ensembl Gene

ENSMUSG00000029454

Gene Name

MAP kinase-activated protein kinase 5

Synonyms

MK5, PRAK

MMRRC Submission

040182-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121663114-121683955 bp(-) (GRCm39)

Type of Mutation

splice site (1248 bp from exon)

DNA Base Change (assembly)

T to C at 121673927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142346 (fasta)

Gene Model

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

AlphaFold

O54992

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031410
AA Change: D158G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
AA Change: D158G

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

possibly damaging
Transcript: ENSMUST00000111783
AA Change: D158G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
AA Change: D158G

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

noncoding transcript
Transcript: ENSMUST00000122152

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125946
AA Change: D158G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
AA Change: D158G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200170
AA Change: D158G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
AA Change: D158G

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: ENSMUST00000154628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131914

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	C	16: 85,684,812 (GRCm39)	D377G	probably damaging	Het
Adgrl4	A	T	3: 151,205,779 (GRCm39)	I164F	probably damaging	Het
Anxa9	T	C	3: 95,213,735 (GRCm39)		probably null	Het
Aox4	A	T	1: 58,252,226 (GRCm39)	T34S	probably benign	Het
Asic1	G	T	15: 99,569,846 (GRCm39)	V56F	probably benign	Het
Atpaf1	T	C	4: 115,645,557 (GRCm39)	M1T	probably null	Het
Axin1	A	G	17: 26,362,309 (GRCm39)	T218A	probably benign	Het
Bdp1	ATTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTC	13: 100,197,913 (GRCm39)		probably benign	Het
Birc6	T	C	17: 74,919,146 (GRCm39)	I1988T	probably benign	Het
Btbd7	A	T	12: 102,752,156 (GRCm39)	D869E	probably damaging	Het
Caln1	T	C	5: 130,868,249 (GRCm39)	*220Q	probably null	Het
Ccdc150	G	A	1: 54,311,706 (GRCm39)		probably null	Het
Ccnt1	A	T	15: 98,441,481 (GRCm39)	S596T	possibly damaging	Het
Cd44	C	T	2: 102,658,955 (GRCm39)	G640E	possibly damaging	Het
Cep192	A	G	18: 67,957,813 (GRCm39)	E582G	possibly damaging	Het
Clcnkb	G	T	4: 141,136,819 (GRCm39)		probably null	Het
Dhx29	T	C	13: 113,099,406 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,059,621 (GRCm39)	F4407S	probably benign	Het
Enah	A	T	1: 181,746,024 (GRCm39)	M419K	probably damaging	Het
Fancd2	A	T	6: 113,551,598 (GRCm39)	T1055S	probably benign	Het
Gigyf2	G	A	1: 87,344,642 (GRCm39)	G525D	probably damaging	Het
Gm5800	T	A	14: 51,953,451 (GRCm39)	K55*	probably null	Het
Gpr149	A	G	3: 62,511,489 (GRCm39)	L170P	probably damaging	Het
Grik4	A	T	9: 42,453,301 (GRCm39)	Y695N	probably benign	Het
Gsg1	A	T	6: 135,217,143 (GRCm39)	V228D	probably damaging	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Helz2	A	T	2: 180,875,525 (GRCm39)	D1656E	probably damaging	Het
Hyou1	A	T	9: 44,299,316 (GRCm39)	K669M	probably benign	Het
Itga2	T	C	13: 114,985,917 (GRCm39)	N953D	possibly damaging	Het
Ldhd	T	C	8: 112,356,018 (GRCm39)	I122V	probably benign	Het
Lrrtm1	A	G	6: 77,221,329 (GRCm39)	D262G	probably damaging	Het
Msantd5l	C	A	11: 51,145,437 (GRCm39)	W50L	probably damaging	Het
Niban1	A	T	1: 151,593,829 (GRCm39)	H838L	probably benign	Het
Numa1	T	C	7: 101,649,197 (GRCm39)	I976T	probably benign	Het
Or10x1	A	G	1: 174,196,967 (GRCm39)	I161M	probably damaging	Het
Or2a12	C	T	6: 42,904,459 (GRCm39)	T98I	probably benign	Het
Or4f14b	A	G	2: 111,775,348 (GRCm39)	V151A	probably benign	Het
Or52e4	T	C	7: 104,706,092 (GRCm39)	I213T	probably benign	Het
Patj	G	A	4: 98,411,739 (GRCm39)		probably null	Het
Pfas	T	C	11: 68,883,013 (GRCm39)	D757G	possibly damaging	Het
Pom121l2	A	G	13: 22,166,145 (GRCm39)	N139D	probably benign	Het
Ppp2r3d	A	T	9: 101,004,214 (GRCm39)	Y994*	probably null	Het
Ppp6c	T	C	2: 39,087,525 (GRCm39)	D227G	probably benign	Het
Ptpn13	T	G	5: 103,717,424 (GRCm39)	H1855Q	probably damaging	Het
Ptprh	T	A	7: 4,604,867 (GRCm39)	Q59L	probably benign	Het
Rap1gap2	T	C	11: 74,283,972 (GRCm39)	K669E	probably benign	Het
Rbl2	T	C	8: 91,816,683 (GRCm39)	S348P	possibly damaging	Het
Rptor	T	A	11: 119,615,970 (GRCm39)	N161K	probably damaging	Het
Satb1	C	T	17: 52,110,524 (GRCm39)	A192T	probably damaging	Het
Scn5a	A	G	9: 119,345,117 (GRCm39)	V1083A	probably benign	Het
Sec14l2	C	T	11: 4,058,964 (GRCm39)	A194T	probably damaging	Het
Sema4b	A	G	7: 79,862,583 (GRCm39)	N53S	probably benign	Het
Sin3b	T	A	8: 73,479,923 (GRCm39)	Y876*	probably null	Het
Smchd1	C	A	17: 71,770,794 (GRCm39)	M129I	probably benign	Het
Spmip6	T	A	4: 41,507,170 (GRCm39)	M209L	probably benign	Het
Tmc1	T	C	19: 20,801,448 (GRCm39)	Y484C	probably damaging	Het
Utp20	A	G	10: 88,656,801 (GRCm39)	S135P	probably damaging	Het
Zfp266	A	T	9: 20,410,975 (GRCm39)	C401S	probably damaging	Het
Zfp738	G	A	13: 67,819,313 (GRCm39)	T226I	probably damaging	Het
Zfp871	G	A	17: 32,994,275 (GRCm39)	T300M	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
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
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'- GCACATGCCTAAACCTCCTG -3'
(R):5'- ACTGACTTAAACCCCTGAGC -3'

Sequencing Primer
(F):5'- TACATCAGTTGGCACAGTGC -3'
(R):5'- TGAGCTCTCACACTAGGGG -3'

Posted On

2014-10-02