Mutagenetix > Incidental Mutation

Incidental Mutation 'R7303:Mapkapk5'

567090

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk5

Ensembl Gene

ENSMUSG00000029454

Gene Name

MAP kinase-activated protein kinase 5

Synonyms

MK5, PRAK

MMRRC Submission

045364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7303 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121663114-121683955 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121678637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 13 (E13G)

Ref Sequence

ENSEMBL: ENSMUSP00000031410 (fasta)

Gene Model

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

AlphaFold

O54992

Predicted Effect

probably benign
Transcript: ENSMUST00000031410
AA Change: E13G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454
AA Change: E13G

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
AA Change: E13G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454
AA Change: E13G

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
AA Change: E13G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340
AA Change: E13G

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
AA Change: E13G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142346
Gene: ENSMUSG00000029454
AA Change: E13G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200170
AA Change: E13G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647
AA Change: E13G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	G	17: 24,617,495 (GRCm39)	L1064R	possibly damaging	Het
Abca7	A	T	10: 79,850,822 (GRCm39)	D2051V	probably benign	Het
Abcb5	T	A	12: 118,875,295 (GRCm39)	I626F	probably damaging	Het
Abcg5	A	G	17: 84,977,774 (GRCm39)	S333P	probably damaging	Het
Abl2	T	C	1: 156,468,820 (GRCm39)	S695P	probably benign	Het
Aen	C	T	7: 78,552,204 (GRCm39)	P55S	possibly damaging	Het
Afg3l1	G	T	8: 124,228,008 (GRCm39)	A598S	probably damaging	Het
Aldh16a1	A	T	7: 44,797,328 (GRCm39)	L160Q	probably damaging	Het
Ang	A	T	14: 51,338,973 (GRCm39)	H38L	probably benign	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Aox1	A	T	1: 58,373,924 (GRCm39)	K862*	probably null	Het
Brme1	G	C	8: 84,887,862 (GRCm39)	G71A	probably benign	Het
Cad	T	C	5: 31,217,557 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,438 (GRCm39)	Y740F	unknown	Het
Ccdc182	T	C	11: 88,185,042 (GRCm39)	Y41H	probably benign	Het
Chd9	A	G	8: 91,778,532 (GRCm39)	R2848G	unknown	Het
Chrna6	A	T	8: 27,897,019 (GRCm39)	L286*	probably null	Het
Cimap1d	G	A	10: 79,478,525 (GRCm39)	P80S	probably benign	Het
Cracr2b	A	G	7: 141,043,115 (GRCm39)		probably benign	Het
Fam184b	C	T	5: 45,699,568 (GRCm39)		probably null	Het
Flnc	T	C	6: 29,460,849 (GRCm39)	S2647P	probably benign	Het
Ftsj3	T	C	11: 106,145,506 (GRCm39)	D76G	probably damaging	Het
Fxyd1	T	A	7: 30,753,743 (GRCm39)	M17L	probably benign	Het
Golim4	G	A	3: 75,785,360 (GRCm39)	S677L	probably damaging	Het
Gpr149	A	G	3: 62,502,491 (GRCm39)	V455A	possibly damaging	Het
H2-Q1	C	A	17: 35,540,312 (GRCm39)	S132R	probably benign	Het
H2-Q7	A	G	17: 35,659,037 (GRCm39)	I163V	probably benign	Het
Herc1	A	T	9: 66,358,098 (GRCm39)	D2393V	possibly damaging	Het
Hmgb2	A	G	8: 57,965,762 (GRCm39)	K44E	possibly damaging	Het
Itgad	A	G	7: 127,789,351 (GRCm39)	D605G	probably benign	Het
Kbtbd12	G	T	6: 88,591,094 (GRCm39)	F16L	unknown	Het
Klhl23	T	C	2: 69,655,045 (GRCm39)	I305T	probably benign	Het
Lrguk	A	T	6: 34,006,411 (GRCm39)	N7I	probably benign	Het
Lrp5	A	G	19: 3,641,774 (GRCm39)	L1396P	probably damaging	Het
Mark3	T	C	12: 111,621,970 (GRCm39)	V704A	probably damaging	Het
Mast2	A	G	4: 116,165,508 (GRCm39)	S1303P	possibly damaging	Het
Mcm2	T	C	6: 88,864,928 (GRCm39)	D516G	probably damaging	Het
Mon2	A	T	10: 122,874,364 (GRCm39)		probably null	Het
Mrc2	T	A	11: 105,216,629 (GRCm39)	N139K	probably damaging	Het
Myh14	C	T	7: 44,261,125 (GRCm39)	E1789K	probably damaging	Het
Myh7b	T	A	2: 155,460,660 (GRCm39)	L271Q	probably damaging	Het
Oog2	A	T	4: 143,921,912 (GRCm39)	H274L	probably benign	Het
Oosp1	A	C	19: 11,645,774 (GRCm39)	S121R	probably benign	Het
Or13a28	T	C	7: 140,218,267 (GRCm39)	S218P	probably damaging	Het
Or8k3b	A	G	2: 86,521,166 (GRCm39)	V51A	probably benign	Het
Pepd	T	C	7: 34,721,197 (GRCm39)		probably null	Het
Pik3c2a	A	C	7: 116,005,178 (GRCm39)	S363R	probably benign	Het
Polr2b	T	C	5: 77,468,868 (GRCm39)	Y215H	probably benign	Het
Ppcdc	A	T	9: 57,321,958 (GRCm39)	V194E	probably benign	Het
Rabgap1l	A	C	1: 160,509,667 (GRCm39)	I470S	probably benign	Het
Scgb1b3	G	A	7: 31,075,383 (GRCm39)	A78T	probably benign	Het
Slc9a5	T	A	8: 106,083,345 (GRCm39)	L368Q	probably damaging	Het
Spef2	T	A	15: 9,647,576 (GRCm39)	I944F	possibly damaging	Het
Syne1	T	A	10: 5,206,805 (GRCm39)	H3461L	probably benign	Het
Tas2r134	A	G	2: 51,518,145 (GRCm39)	Y208C	probably benign	Het
Tasor	A	G	14: 27,193,809 (GRCm39)	E1003G	probably damaging	Het
Tm9sf3	G	A	19: 41,227,198 (GRCm39)	S291F	probably damaging	Het
Tra2a	G	A	6: 49,227,921 (GRCm39)	T69I	unknown	Het
Ube2q1	T	A	3: 89,683,898 (GRCm39)	L171Q	possibly damaging	Het
Ufd1	A	G	16: 18,636,715 (GRCm39)	T78A	probably damaging	Het
Vmn1r13	T	C	6: 57,187,587 (GRCm39)	S249P	probably damaging	Het
Wdr91	G	A	6: 34,861,258 (GRCm39)	S648L	probably benign	Het
Zfp51	T	A	17: 21,684,058 (GRCm39)	N224K	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
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
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'- TAAACTCAGGCCAATTCTTAGGGC -3'
(R):5'- GGCGGGTAACTTATCCAGTTTC -3'

Sequencing Primer
(F):5'- GCCAATTCTTAGGGCGCATC -3'
(R):5'- ATTCTCGAACCTATGTTATTGGGAG -3'

Posted On

2019-06-26