Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Dusp5'

660570

Institutional Source

Beutler Lab

Gene Symbol

Dusp5

Ensembl Gene

ENSMUSG00000034765

Gene Name

dual specificity phosphatase 5

Synonyms

LOC240672

MMRRC Submission

067805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8353 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53517576-53530240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53518113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 122 (V122A)

Ref Sequence

ENSEMBL: ENSMUSP00000047900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038287]

AlphaFold

Q1HL35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038287
AA Change: V122A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047900
Gene: ENSMUSG00000034765
AA Change: V122A

Domain	Start	End	E-Value	Type
RHOD	9	138	1.88e-13	SMART
DSPc	178	316	4.48e-56	SMART

Meta Mutation Damage Score

0.3388

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (61/62)

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 member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased proliferation and apoptosis and altered metabolic profiles in T cells. Mice homozygous for other null alleles exhibit altered eosinophilic response to parasicitc infection and increased susceptibility to induced tumors. [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
Abr	T	C	11: 76,310,659 (GRCm39)	T752A	probably damaging	Het
Adar	A	G	3: 89,657,569 (GRCm39)	T508A	possibly damaging	Het
Atxn3	T	A	12: 101,912,159 (GRCm39)	K85I	probably benign	Het
Atxn7l1	G	T	12: 33,197,882 (GRCm39)	W50L	probably damaging	Het
Bahcc1	T	C	11: 120,165,251 (GRCm39)	V894A	probably damaging	Het
Bloc1s3	G	T	7: 19,241,324 (GRCm39)	T68K	probably benign	Het
Bmerb1	T	A	16: 13,855,877 (GRCm39)		probably null	Het
Brd10	T	C	19: 29,731,242 (GRCm39)	H590R	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,881 (GRCm39)		probably null	Het
Cd55b	T	C	1: 130,341,870 (GRCm39)	I256V	probably benign	Het
Celsr3	T	A	9: 108,703,734 (GRCm39)	D72E	probably benign	Het
Cep41	T	C	6: 30,658,891 (GRCm39)	D152G	probably benign	Het
Cip2a	C	T	16: 48,821,436 (GRCm39)	Q181*	probably null	Het
Cpne8	C	A	15: 90,425,496 (GRCm39)	K285N	possibly damaging	Het
Csmd3	A	T	15: 47,813,349 (GRCm39)	I1061K	probably damaging	Het
Cspg4	A	T	9: 56,805,953 (GRCm39)	N2255Y	probably damaging	Het
Cym	T	A	3: 107,129,025 (GRCm39)		probably benign	Het
Cyp2d9	T	C	15: 82,336,720 (GRCm39)	V23A	probably damaging	Het
Dnah1	A	T	14: 31,005,159 (GRCm39)	I2365K	probably benign	Het
Dock5	C	T	14: 68,054,957 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,403,639 (GRCm39)	H1613L	probably damaging	Het
Emc6	A	G	11: 73,067,399 (GRCm39)	L44P	probably damaging	Het
Fbxl6	G	T	15: 76,422,678 (GRCm39)	T80K	probably benign	Het
Frrs1	T	A	3: 116,692,822 (GRCm39)	M32K	possibly damaging	Het
Gfod1	A	G	13: 43,354,366 (GRCm39)	V203A	possibly damaging	Het
Gjc2	G	A	11: 59,067,840 (GRCm39)	A214V	unknown	Het
Gkn2	T	C	6: 87,355,135 (GRCm39)	Y115H	probably damaging	Het
Gpatch1	A	C	7: 34,976,704 (GRCm39)		probably benign	Het
Hemgn	G	T	4: 46,403,935 (GRCm39)	P20Q	possibly damaging	Het
Herc1	G	T	9: 66,415,571 (GRCm39)	V4849L	possibly damaging	Het
Hmcn2	A	T	2: 31,275,353 (GRCm39)		probably null	Het
Htt	C	A	5: 35,034,499 (GRCm39)	T1990N	possibly damaging	Het
Jrk	C	T	15: 74,578,474 (GRCm39)	W270*	probably null	Het
Katnb1	A	G	8: 95,822,072 (GRCm39)	D266G	probably damaging	Het
Klhl42	A	G	6: 147,009,421 (GRCm39)	K420R	probably damaging	Het
Lamb1	C	A	12: 31,356,998 (GRCm39)	T1035K	probably damaging	Het
Laptm5	T	C	4: 130,656,079 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,240,971 (GRCm39)	S22P	probably benign	Het
Mn1	A	G	5: 111,568,505 (GRCm39)	N825S	possibly damaging	Het
Mup17	C	T	4: 61,510,419 (GRCm39)		probably null	Het
Ncapd3	T	A	9: 26,983,100 (GRCm39)	D949E	probably benign	Het
Ncoa7	T	C	10: 30,570,155 (GRCm39)	E230G	probably damaging	Het
Nxnl1	A	G	8: 72,015,512 (GRCm39)	V132A	probably damaging	Het
Oard1	A	G	17: 48,723,788 (GRCm39)	I145V	probably benign	Het
Pabpc4	T	G	4: 123,189,846 (GRCm39)	L555R	probably benign	Het
Ppp1r11	G	T	17: 37,260,866 (GRCm39)	S21R	possibly damaging	Het
Prr36	T	C	8: 4,263,831 (GRCm39)		probably benign	Het
Serpina1a	T	A	12: 103,822,038 (GRCm39)	D298V	probably benign	Het
Sqle	A	T	15: 59,196,314 (GRCm39)	H369L	possibly damaging	Het
Stambp	T	C	6: 83,538,881 (GRCm39)	E173G	probably damaging	Het
Syne1	T	C	10: 5,300,983 (GRCm39)	N915S	probably damaging	Het
Tjap1	C	A	17: 46,593,530 (GRCm39)		probably benign	Het
Tmem62	A	C	2: 120,814,817 (GRCm39)	K30T	probably damaging	Het
Tmtc1	T	C	6: 148,327,346 (GRCm39)	T56A	probably benign	Het
Trav6-4	A	T	14: 53,691,946 (GRCm39)	M18L	probably benign	Het
Trim69	T	C	2: 121,998,490 (GRCm39)	I154T	possibly damaging	Het
Uggt1	T	C	1: 36,209,377 (GRCm39)		probably null	Het
Usp48	T	A	4: 137,350,693 (GRCm39)	M60K	probably benign	Het
Usp7	A	G	16: 8,513,735 (GRCm39)	S753P	probably benign	Het
Vmn2r27	A	C	6: 124,169,404 (GRCm39)	N575K	probably damaging	Het
Wdfy4	A	C	14: 32,695,581 (GRCm39)	D2672E	probably benign	Het
Zdhhc17	G	A	10: 110,845,803 (GRCm39)	P30L	probably benign	Het
Zmym4	T	A	4: 126,800,905 (GRCm39)	Y565F	possibly damaging	Het

Other mutations in Dusp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01949:Dusp5	APN	19	53,525,904 (GRCm39)	missense	probably damaging	1.00
IGL02017:Dusp5	APN	19	53,525,937 (GRCm39)	missense	probably damaging	1.00
R4523:Dusp5	UTSW	19	53,526,032 (GRCm39)	missense	probably damaging	1.00
R5350:Dusp5	UTSW	19	53,529,665 (GRCm39)	missense	probably damaging	1.00
R7941:Dusp5	UTSW	19	53,525,964 (GRCm39)	missense	probably benign
R8021:Dusp5	UTSW	19	53,517,929 (GRCm39)	missense	probably benign	0.13
R8142:Dusp5	UTSW	19	53,525,912 (GRCm39)	missense	probably damaging	1.00
R8155:Dusp5	UTSW	19	53,529,537 (GRCm39)	nonsense	probably null
R8336:Dusp5	UTSW	19	53,529,406 (GRCm39)	missense	probably damaging	1.00
R8881:Dusp5	UTSW	19	53,529,745 (GRCm39)	missense	probably benign	0.05
R9640:Dusp5	UTSW	19	53,526,051 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACGTCAACCTCAACTCGGTG -3'
(R):5'- TGTTGCAAGGACCTCCCAAG -3'

Sequencing Primer
(F):5'- AACCTCAACTCGGTGGTGCTG -3'
(R):5'- GGACCTCCCAAGCGCAC -3'

Posted On

2021-01-18