Mutagenetix > Incidental Mutations

Incidental Mutation 'R4974:Ppp5c'

382486

Institutional Source

Beutler Lab

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

ANP receptor, PP5

MMRRC Submission

042569-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17004640-17027924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17009936 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 191 (M191K)

Ref Sequence

ENSEMBL: ENSMUSP00000003183 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000003183
AA Change: M191K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: M191K

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

noncoding transcript
Transcript: ENSMUST00000124573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138353

Predicted Effect

unknown
Transcript: ENSMUST00000142597
AA Change: M189K

SMART Domains

Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: M189K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156366

Meta Mutation Damage Score

0.9463

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,820,287	F655Y	probably damaging	Het
A730061H03Rik	C	T	14: 55,560,117		probably benign	Het
Acsf2	A	C	11: 94,569,329	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,280,924	R347S	probably benign	Het
Akap9	A	G	5: 3,961,466	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,308,013		probably benign	Het
Aqr	T	C	2: 114,113,351	H1102R	probably damaging	Het
Arrdc2	A	G	8: 70,837,518	V173A	probably benign	Het
Aspm	T	C	1: 139,478,010	V1545A	probably benign	Het
Bbs5	C	T	2: 69,647,234		probably benign	Het
Bnip2	A	G	9: 70,003,434	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,648,523	T1531A	probably damaging	Het
Cast	T	C	13: 74,807,823	K9R	probably benign	Het
Cfap46	A	T	7: 139,607,188		probably null	Het
Cfap57	G	T	4: 118,593,054	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,563,879	M339L	probably benign	Het
Dcst1	T	A	3: 89,357,803	T247S	probably benign	Het
Dnajc18	T	A	18: 35,683,319	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,249,012	T126A	probably benign	Het
Epha2	A	G	4: 141,321,705	E624G	probably damaging	Het
Erbb3	G	A	10: 128,572,448	H866Y	probably benign	Het
F13a1	C	T	13: 36,916,863		probably null	Het
Fgd3	T	A	13: 49,278,602	N392I	probably damaging	Het
Fgf7	A	T	2: 126,088,240	M98L	probably benign	Het
G2e3	T	A	12: 51,369,139	S553T	probably benign	Het
Glipr1	C	A	10: 111,993,506	E117*	probably null	Het
Gm11060	A	T	2: 105,093,783		probably benign	Het
Gm4787	A	G	12: 81,377,629	I585T	probably damaging	Het
Gm6055	A	T	14: 48,079,458		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,279,545		probably benign	Het
Gpt2	T	A	8: 85,519,439		probably benign	Het
Gtf2ird1	A	T	5: 134,357,831	Y345*	probably null	Het
Hmcn1	T	A	1: 150,819,449	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,726,754	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,469,569	T427I	probably benign	Het
Itpr3	A	T	17: 27,083,608	D80V	probably damaging	Het
Kif21a	G	T	15: 90,949,010	H1317N	probably benign	Het
Kif28	T	C	1: 179,698,644	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,147,071		noncoding transcript	Het
Klk11	C	T	7: 43,777,736	T148I	probably damaging	Het
Klkb1	T	A	8: 45,286,958	H99L	probably damaging	Het
Kpna6	A	C	4: 129,656,405		probably null	Het
Lama3	G	T	18: 12,552,826	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,208,471	L264*	probably null	Het
Map2	T	C	1: 66,413,505	V360A	probably benign	Het
Med13	A	T	11: 86,298,847	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,537,220	M162T	probably damaging	Het
Mppe1	T	G	18: 67,228,062	E208A	probably benign	Het
Msantd2	A	C	9: 37,489,379	K19T	possibly damaging	Het
Mylk3	A	G	8: 85,364,783	V131A	probably damaging	Het
Myocd	A	T	11: 65,183,473	S609T	possibly damaging	Het
Ncbp3	G	A	11: 73,053,529		probably null	Het
Neb	T	A	2: 52,246,859	L3203F	probably damaging	Het
Notch2	C	A	3: 98,139,633	T1756K	probably benign	Het
Nphp4	A	T	4: 152,537,793	R544W	probably damaging	Het
Olfr1179	T	G	2: 88,402,412	H174P	probably damaging	Het
Olfr368	A	T	2: 37,332,566	D273V	probably damaging	Het
Olfr402	A	T	11: 74,155,919	Y255F	probably benign	Het
Parp4	T	A	14: 56,589,898	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,682,372	Q639K	probably benign	Het
Pcnx2	A	G	8: 125,851,130	V936A	probably benign	Het
Pcsk7	T	A	9: 45,918,862	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,733,007	I188T	probably benign	Het
Pgs1	A	G	11: 118,005,519	R339G	probably benign	Het
Pik3r3	A	G	4: 116,286,191	I294V	probably benign	Het
Pik3r6	A	G	11: 68,539,945	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,820,409	V442A	probably benign	Het
Ppfibp1	T	A	6: 147,030,419		probably benign	Het
Ppp3ca	C	A	3: 136,935,049	Q454K	possibly damaging	Het
Prl4a1	A	T	13: 28,023,325	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,680,103	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Ptprm	T	A	17: 66,678,067	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734	D236E	probably damaging	Het
Qars	T	C	9: 108,508,931	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,999,808		probably benign	Het
Rptor	A	T	11: 119,821,640		probably benign	Het
Rtn4	T	A	11: 29,740,994	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,154,715	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630	T401M	probably benign	Het
Slc12a6	C	T	2: 112,358,525	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,584,450	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,307,701	V240D	probably damaging	Het
Snx9	G	A	17: 5,902,519		probably null	Het
Spred3	A	G	7: 29,167,824	V49A	probably damaging	Het
Tars	A	G	15: 11,390,391	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,671,147	V110A	probably benign	Het
Tfrc	T	G	16: 32,618,279	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,075,478		probably benign	Het
Txlnb	T	C	10: 17,838,969	V383A	probably damaging	Het
Utp20	C	A	10: 88,816,949	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,091,506	V397E	probably damaging	Het
Zdhhc12	G	A	2: 30,091,526	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,680,900		probably null	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
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
R7885:Ppp5c	UTSW	7	17006186	missense	possibly damaging	0.86
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'- CAGATGAGGTCAGTGTAGCTC -3'
(R):5'- CCAGGATTGCAGGAGTTGTG -3'

Sequencing Primer
(F):5'- AGGTCAGTGTAGCTCTCAGC -3'
(R):5'- CAGGAGTTGTGAGCTGATCCTAAG -3'

Posted On

2016-04-27