Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Dusp5'

676953

Institutional Source

Beutler Lab

Gene Symbol

Dusp5

Ensembl Gene

ENSMUSG00000034765

Gene Name

dual specificity phosphatase 5

Synonyms

LOC240672

MMRRC Submission

068749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53517576-53530240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53529745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 383 (S383T)

Ref Sequence

ENSEMBL: ENSMUSP00000047900 (fasta)

Gene Model

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

AlphaFold

Q1HL35

Predicted Effect

probably benign
Transcript: ENSMUST00000038287
AA Change: S383T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047900
Gene: ENSMUSG00000034765
AA Change: S383T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,074,794 (GRCm39)	C612Y	probably benign	Het
Adam21	T	C	12: 81,606,650 (GRCm39)	T371A	probably benign	Het
Akap9	T	C	5: 4,011,279 (GRCm39)	S661P		Het
Anxa11	C	T	14: 25,874,687 (GRCm39)	R233C	probably damaging	Het
Capza3	A	C	6: 139,987,521 (GRCm39)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,718,273 (GRCm39)	N294K	probably damaging	Het
Cdh1	T	C	8: 107,392,904 (GRCm39)	V796A	probably benign	Het
Cfap251	C	T	5: 123,462,438 (GRCm39)	P1249L	probably damaging	Het
Cped1	A	T	6: 22,119,578 (GRCm39)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,185,902 (GRCm39)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,474,343 (GRCm39)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,537,922 (GRCm39)	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,077,647 (GRCm39)	N1282S	probably benign	Het
Dnah11	C	T	12: 118,090,550 (GRCm39)	V1104M	probably benign	Het
Dot1l	A	G	10: 80,621,429 (GRCm39)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,108,299 (GRCm39)	T28K		Het
Eef2k	C	T	7: 120,472,548 (GRCm39)	A87V	probably damaging	Het
Epha1	T	C	6: 42,337,961 (GRCm39)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,382,997 (GRCm39)		probably null	Het
Fam151b	T	A	13: 92,604,630 (GRCm39)	M120L	probably benign	Het
Fam237b	A	C	5: 5,625,379 (GRCm39)	D25A	possibly damaging	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,272,735 (GRCm39)	H886N	probably benign	Het
Galnt17	T	C	5: 130,906,635 (GRCm39)	H511R	probably benign	Het
Grpel1	C	A	5: 36,626,816 (GRCm39)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,530,819 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,723 (GRCm39)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,231,498 (GRCm39)	T309S	probably benign	Het
Itgal	G	A	7: 126,929,541 (GRCm39)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,257,654 (GRCm39)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,669,296 (GRCm39)	R151L	probably benign	Het
Lgi3	T	A	14: 70,770,282 (GRCm39)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,743,866 (GRCm39)	H731R	probably benign	Het
Lrp5	A	T	19: 3,641,015 (GRCm39)	S1482T	probably damaging	Het
Meis2	T	C	2: 115,889,116 (GRCm39)	D212G	probably benign	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 144,861,999 (GRCm39)	H187R	probably benign	Het
Mvd	A	G	8: 123,164,564 (GRCm39)		probably null	Het
Neb	T	C	2: 52,096,999 (GRCm39)	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,042,177 (GRCm39)	M168K	probably benign	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,554,920 (GRCm39)	I1133T	probably benign	Het
Numa1	T	C	7: 101,650,684 (GRCm39)	Y1472H	probably benign	Het
Or10ak8	A	G	4: 118,774,571 (GRCm39)	V31A	probably benign	Het
Or12j3	A	G	7: 139,952,698 (GRCm39)	V275A	probably benign	Het
Or2y10	G	A	11: 49,455,209 (GRCm39)	V154M	probably benign	Het
Or3a1d	T	C	11: 74,237,471 (GRCm39)	D313G	probably benign	Het
Or52h7	A	G	7: 104,213,619 (GRCm39)	M64V	possibly damaging	Het
Pate7	T	A	9: 35,689,384 (GRCm39)		probably benign	Het
Pcdha6	G	T	18: 37,101,484 (GRCm39)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,581,489 (GRCm39)	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,105,194 (GRCm39)	R322H	probably damaging	Het
Sgtb	T	C	13: 104,258,046 (GRCm39)		probably null	Het
Skint6	T	C	4: 112,672,716 (GRCm39)	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,527,457 (GRCm39)	E646G	probably damaging	Het
Speg	G	T	1: 75,377,795 (GRCm39)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,429,912 (GRCm39)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,700,098 (GRCm39)	V984A	probably benign	Het
Syne1	A	T	10: 5,223,639 (GRCm39)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,730,101 (GRCm39)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,587 (GRCm39)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,327,987 (GRCm39)	*582G	probably null	Het
Trip13	C	A	13: 74,077,795 (GRCm39)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,661,883 (GRCm39)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,423,737 (GRCm39)	I2T	possibly damaging	Het
V1rd19	T	A	7: 23,703,081 (GRCm39)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,486,609 (GRCm39)	G762V	probably benign	Het
Zfp874b	T	C	13: 67,622,141 (GRCm39)	K386E	probably 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
R8353:Dusp5	UTSW	19	53,518,113 (GRCm39)	missense	possibly damaging	0.48
R9640:Dusp5	UTSW	19	53,526,051 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGTATGAATCTGAGATCCTGC -3'
(R):5'- GGGATGGTCTGAAGTGCATC -3'

Sequencing Primer
(F):5'- GTATGAATCTGAGATCCTGCCCTCC -3'
(R):5'- GGCAGCAGTCTTCAGTAT -3'

Posted On

2021-07-15