Mutagenetix > Incidental Mutations

Incidental Mutation 'R7885:Ppp5c'

609006

Institutional Source

Beutler Lab

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

ANP receptor, PP5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17004640-17027924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17006186 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 410 (V410A)

Ref Sequence

ENSEMBL: ENSMUSP00000003183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003183]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003183
AA Change: V410A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: V410A

Domain	Start	End	E-Value	Type
TPR	28	61	1.92e-6	SMART
TPR	62	95	8.29e0	SMART
TPR	96	129	4.28e-4	SMART
PP2Ac	204	480	2.8e-164	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: V386A

Domain	Start	End	E-Value	Type
TPR	27	60	1.92e-6	SMART
TPR	61	94	8.29e0	SMART
TPR	95	128	4.28e-4	SMART
PP2Ac	203	457	1.83e-145	SMART

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.] This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in cell cycle check-point arrest following treatment with ionizing radition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,189,314	L608P	probably damaging	Het
Adarb1	A	G	10: 77,295,708	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,667,337	R244H	possibly damaging	Het
Asic5	A	T	3: 82,006,505	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,877	F76S	probably damaging	Het
Bin1	G	A	18: 32,419,843	A174T	probably damaging	Het
Bnipl	A	C	3: 95,250,240	S23A	probably benign	Het
Cd19	T	C	7: 126,412,131	T294A	probably benign	Het
Cdon	G	A	9: 35,456,522	V238I	probably benign	Het
Chd3	A	T	11: 69,356,625	D957E	probably benign	Het
Crhbp	T	C	13: 95,432,007	Q307R	probably damaging	Het
Cst3	A	G	2: 148,872,821	M112T	probably benign	Het
Dgkb	A	G	12: 38,139,426	E276G	probably damaging	Het
Exoc4	T	A	6: 33,758,066	N539K	probably benign	Het
Gm3099	A	G	14: 3,999,461	E85G	probably benign	Het
Gpatch2	A	G	1: 187,225,501		probably null	Het
Hs3st5	T	A	10: 36,828,780	Y26*	probably null	Het
Hspg2	A	T	4: 137,516,837	D802V	probably damaging	Het
Ifih1	A	G	2: 62,601,469	V846A	possibly damaging	Het
Lama4	T	A	10: 39,088,844	S1402T	probably benign	Het
Lrmda	A	G	14: 22,598,320	T73A	unknown	Het
Lrrc1	A	T	9: 77,442,189	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,503,042	Q519L	probably benign	Het
Mlc1	G	T	15: 88,977,904	D36E	probably benign	Het
Mrc2	A	T	11: 105,332,266	D445V	probably damaging	Het
Muc16	A	G	9: 18,639,464	S5178P	probably benign	Het
Nbea	A	G	3: 55,665,689	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,339,044	I77T	probably damaging	Het
Npepps	G	T	11: 97,218,648	H701N	probably damaging	Het
Olfr733	T	G	14: 50,298,584	T242P	probably damaging	Het
Olfr837	A	T	9: 19,137,535	I181F	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,714,191		probably null	Het
Pclo	T	TTCTAG	5: 14,714,195		probably null	Het
Pi4kb	T	C	3: 94,999,076	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,492,702	A449V	possibly damaging	Het
Plat	A	G	8: 22,771,720	T45A	probably benign	Het
Platr25	T	C	13: 62,700,862	K62R	possibly damaging	Het
Prdm2	C	T	4: 143,134,570	A717T	probably benign	Het
Pstpip2	C	A	18: 77,794,722	T2K	probably benign	Het
Ptpn12	A	C	5: 20,998,525	S418R	possibly damaging	Het
Rint1	A	G	5: 23,805,644	S255G	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Stab2	T	C	10: 86,878,912	H1581R	probably benign	Het
Stau2	T	C	1: 16,460,353	Y114C	unknown	Het
Ticam1	T	C	17: 56,271,067	T343A	probably benign	Het
Tmem131l	T	C	3: 83,910,417	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 19,793,123	F169I	probably benign	Het
Vps33a	T	C	5: 123,535,249	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,020,649	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,336,663	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,074,129	D62E	probably benign	Het

Other mutations in Ppp5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Ppp5c	APN	7	17008630	missense	possibly damaging	0.87
IGL02794:Ppp5c	APN	7	17006960	missense	probably benign	0.15
IGL02831:Ppp5c	APN	7	17008645	missense	probably damaging	1.00
IGL02950:Ppp5c	APN	7	17006910	missense	probably benign	0.00
Persephone	UTSW	7	17022443	missense	probably benign	0.01
R0078:Ppp5c	UTSW	7	17027725	missense	probably benign	0.09
R0366:Ppp5c	UTSW	7	17022583	nonsense	probably null
R1102:Ppp5c	UTSW	7	17022443	missense	probably benign	0.01
R1511:Ppp5c	UTSW	7	17009982	missense	probably damaging	1.00
R1518:Ppp5c	UTSW	7	17009936	missense	probably damaging	0.97
R1714:Ppp5c	UTSW	7	17008703	missense	probably benign	0.01
R1754:Ppp5c	UTSW	7	17005310	missense	probably benign	0.20
R2380:Ppp5c	UTSW	7	17006115	missense	probably damaging	1.00
R2431:Ppp5c	UTSW	7	17015425	missense	probably damaging	0.99
R4854:Ppp5c	UTSW	7	17009022	missense	probably benign	0.00
R4974:Ppp5c	UTSW	7	17009936	missense	probably damaging	0.97
R5303:Ppp5c	UTSW	7	17005284	missense	probably benign
R5626:Ppp5c	UTSW	7	17027704	missense	probably benign
R5785:Ppp5c	UTSW	7	17027691	critical splice donor site	probably null
R6059:Ppp5c	UTSW	7	17027907	unclassified	probably benign
R6855:Ppp5c	UTSW	7	17006966	missense	possibly damaging	0.95
R7760:Ppp5c	UTSW	7	17006349	missense	probably damaging	1.00
R7922:Ppp5c	UTSW	7	17027800	missense	possibly damaging	0.72
R8113:Ppp5c	UTSW	7	17009007	missense	probably benign
R8170:Ppp5c	UTSW	7	17007146	missense	probably damaging	0.99
X0026:Ppp5c	UTSW	7	17007110	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CAGAATAAACCCTGTGGCTTGGG -3'
(R):5'- GGAAACAGGTAAGTCTCACACTG -3'

Sequencing Primer
(F):5'- CCCTGTGGCTTGGGCAAAAAG -3'
(R):5'- CCTGTAGGTCCCATGTGTGAC -3'

Posted On

2019-12-20