Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Ppp5c'

382486

Institutional Source

Beutler Lab

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

PP5, ANP receptor

MMRRC Submission

042569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16738575-16761812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16743861 bp (GRCm39)

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]

AlphaFold

Q60676

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: ENSMUST00000156366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154880

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
A730061H03Rik	C	T	14: 55,797,574 (GRCm39)		probably benign	Het
Acsf2	A	C	11: 94,460,155 (GRCm39)	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,438,268 (GRCm39)	R347S	probably benign	Het
Akap9	A	G	5: 4,011,466 (GRCm39)	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,215,324 (GRCm39)		probably benign	Het
Aqr	T	C	2: 113,943,832 (GRCm39)	H1102R	probably damaging	Het
Armh3	A	T	19: 45,808,726 (GRCm39)	F655Y	probably damaging	Het
Arrdc2	A	G	8: 71,290,162 (GRCm39)	V173A	probably benign	Het
Aspm	T	C	1: 139,405,748 (GRCm39)	V1545A	probably benign	Het
Bbs5	C	T	2: 69,477,578 (GRCm39)		probably benign	Het
Bnip2	A	G	9: 69,910,716 (GRCm39)	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,538,535 (GRCm39)	T1531A	probably damaging	Het
Cast	T	C	13: 74,955,942 (GRCm39)	K9R	probably benign	Het
Cfap46	A	T	7: 139,187,104 (GRCm39)		probably null	Het
Cfap57	G	T	4: 118,450,251 (GRCm39)	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,552,323 (GRCm39)	M339L	probably benign	Het
Dcst1	T	A	3: 89,265,110 (GRCm39)	T247S	probably benign	Het
Dnajc18	T	A	18: 35,816,372 (GRCm39)	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,066,876 (GRCm39)	T126A	probably benign	Het
Epha2	A	G	4: 141,049,016 (GRCm39)	E624G	probably damaging	Het
Erbb3	G	A	10: 128,408,317 (GRCm39)	H866Y	probably benign	Het
F13a1	C	T	13: 37,100,837 (GRCm39)		probably null	Het
Fgd3	T	A	13: 49,432,078 (GRCm39)	N392I	probably damaging	Het
Fgf7	A	T	2: 125,930,160 (GRCm39)	M98L	probably benign	Het
G2e3	T	A	12: 51,415,922 (GRCm39)	S553T	probably benign	Het
Glipr1	C	A	10: 111,829,411 (GRCm39)	E117*	probably null	Het
Gm11060	A	T	2: 104,924,128 (GRCm39)		probably benign	Het
Gm4787	A	G	12: 81,424,403 (GRCm39)	I585T	probably damaging	Het
Gm6055	A	T	14: 48,316,915 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gpt2	T	A	8: 86,246,068 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,386,685 (GRCm39)	Y345*	probably null	Het
Hmcn1	T	A	1: 150,695,200 (GRCm39)	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,703,738 (GRCm39)	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,446,530 (GRCm39)	T427I	probably benign	Het
Itpr3	A	T	17: 27,302,582 (GRCm39)	D80V	probably damaging	Het
Kif21a	G	T	15: 90,833,213 (GRCm39)	H1317N	probably benign	Het
Kif28	T	C	1: 179,526,209 (GRCm39)	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,113,330 (GRCm39)		noncoding transcript	Het
Klk1b11	C	T	7: 43,427,160 (GRCm39)	T148I	probably damaging	Het
Klkb1	T	A	8: 45,739,995 (GRCm39)	H99L	probably damaging	Het
Kpna6	A	C	4: 129,550,198 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,685,883 (GRCm39)	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,445,911 (GRCm39)	L264*	probably null	Het
Map2	T	C	1: 66,452,664 (GRCm39)	V360A	probably benign	Het
Med13	A	T	11: 86,189,673 (GRCm39)	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,364,789 (GRCm39)	M162T	probably damaging	Het
Mppe1	T	G	18: 67,361,133 (GRCm39)	E208A	probably benign	Het
Msantd2	A	C	9: 37,400,675 (GRCm39)	K19T	possibly damaging	Het
Mylk3	A	G	8: 86,091,412 (GRCm39)	V131A	probably damaging	Het
Myocd	A	T	11: 65,074,299 (GRCm39)	S609T	possibly damaging	Het
Ncbp3	G	A	11: 72,944,355 (GRCm39)		probably null	Het
Neb	T	A	2: 52,136,871 (GRCm39)	L3203F	probably damaging	Het
Notch2	C	A	3: 98,046,949 (GRCm39)	T1756K	probably benign	Het
Nphp4	A	T	4: 152,622,250 (GRCm39)	R544W	probably damaging	Het
Or3a1c	A	T	11: 74,046,745 (GRCm39)	Y255F	probably benign	Het
Or4p18	T	G	2: 88,232,756 (GRCm39)	H174P	probably damaging	Het
Or5c1	A	T	2: 37,222,578 (GRCm39)	D273V	probably damaging	Het
Parp4	T	A	14: 56,827,355 (GRCm39)	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,815,425 (GRCm39)	Q639K	probably benign	Het
Pcnx2	A	G	8: 126,577,869 (GRCm39)	V936A	probably benign	Het
Pcsk7	T	A	9: 45,830,160 (GRCm39)	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,640,314 (GRCm39)	I188T	probably benign	Het
Pgs1	A	G	11: 117,896,345 (GRCm39)	R339G	probably benign	Het
Pik3r3	A	G	4: 116,143,388 (GRCm39)	I294V	probably benign	Het
Pik3r6	A	G	11: 68,430,771 (GRCm39)	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,704,610 (GRCm39)	V442A	probably benign	Het
Ppfibp1	T	A	6: 146,931,917 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,640,810 (GRCm39)	Q454K	possibly damaging	Het
Prl4a1	A	T	13: 28,207,308 (GRCm39)	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,646,362 (GRCm39)	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Ptprm	T	A	17: 66,985,062 (GRCm39)	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734 (GRCm38)	D236E	probably damaging	Het
Qars1	T	C	9: 108,386,130 (GRCm39)	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,599,031 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,466 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,690,994 (GRCm39)	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,082,445 (GRCm39)	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630 (GRCm39)	T401M	probably benign	Het
Slc12a6	C	T	2: 112,188,870 (GRCm39)	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,456,299 (GRCm39)	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,284,662 (GRCm39)	V240D	probably damaging	Het
Snx9	G	A	17: 5,952,794 (GRCm39)		probably null	Het
Spred3	A	G	7: 28,867,249 (GRCm39)	V49A	probably damaging	Het
Tars1	A	G	15: 11,390,477 (GRCm39)	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,578,454 (GRCm39)	V110A	probably benign	Het
Tfrc	T	G	16: 32,437,097 (GRCm39)	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,528,128 (GRCm39)		probably benign	Het
Txlnb	T	C	10: 17,714,717 (GRCm39)	V383A	probably damaging	Het
Utp20	C	A	10: 88,652,811 (GRCm39)	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,239,372 (GRCm39)	V397E	probably damaging	Het
Zdhhc12	G	A	2: 29,981,538 (GRCm39)	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,538,097 (GRCm39)		probably null	Het

Other mutations in Ppp5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Ppp5c	APN	7	16,742,555 (GRCm39)	missense	possibly damaging	0.87
IGL02794:Ppp5c	APN	7	16,740,885 (GRCm39)	missense	probably benign	0.15
IGL02831:Ppp5c	APN	7	16,742,570 (GRCm39)	missense	probably damaging	1.00
IGL02950:Ppp5c	APN	7	16,740,835 (GRCm39)	missense	probably benign	0.00
Persephone	UTSW	7	16,756,368 (GRCm39)	missense	probably benign	0.01
pontius	UTSW	7	16,741,137 (GRCm39)	nonsense	probably null
Pylon	UTSW	7	16,740,274 (GRCm39)	missense	probably damaging	1.00
R0078:Ppp5c	UTSW	7	16,761,650 (GRCm39)	missense	probably benign	0.09
R0366:Ppp5c	UTSW	7	16,756,508 (GRCm39)	nonsense	probably null
R1102:Ppp5c	UTSW	7	16,756,368 (GRCm39)	missense	probably benign	0.01
R1511:Ppp5c	UTSW	7	16,743,907 (GRCm39)	missense	probably damaging	1.00
R1518:Ppp5c	UTSW	7	16,743,861 (GRCm39)	missense	probably damaging	0.97
R1714:Ppp5c	UTSW	7	16,742,628 (GRCm39)	missense	probably benign	0.01
R1754:Ppp5c	UTSW	7	16,739,235 (GRCm39)	missense	probably benign	0.20
R2380:Ppp5c	UTSW	7	16,740,040 (GRCm39)	missense	probably damaging	1.00
R2431:Ppp5c	UTSW	7	16,749,350 (GRCm39)	missense	probably damaging	0.99
R4854:Ppp5c	UTSW	7	16,742,947 (GRCm39)	missense	probably benign	0.00
R5303:Ppp5c	UTSW	7	16,739,209 (GRCm39)	missense	probably benign
R5626:Ppp5c	UTSW	7	16,761,629 (GRCm39)	missense	probably benign
R5785:Ppp5c	UTSW	7	16,761,616 (GRCm39)	critical splice donor site	probably null
R6059:Ppp5c	UTSW	7	16,761,832 (GRCm39)	unclassified	probably benign
R6855:Ppp5c	UTSW	7	16,740,891 (GRCm39)	missense	possibly damaging	0.95
R7760:Ppp5c	UTSW	7	16,740,274 (GRCm39)	missense	probably damaging	1.00
R7885:Ppp5c	UTSW	7	16,740,111 (GRCm39)	missense	possibly damaging	0.86
R7922:Ppp5c	UTSW	7	16,761,725 (GRCm39)	missense	possibly damaging	0.72
R8113:Ppp5c	UTSW	7	16,742,932 (GRCm39)	missense	probably benign
R8170:Ppp5c	UTSW	7	16,741,071 (GRCm39)	missense	probably damaging	0.99
R9260:Ppp5c	UTSW	7	16,740,886 (GRCm39)	missense	probably benign	0.06
R9376:Ppp5c	UTSW	7	16,743,849 (GRCm39)	missense	probably damaging	1.00
R9460:Ppp5c	UTSW	7	16,741,137 (GRCm39)	nonsense	probably null
X0026:Ppp5c	UTSW	7	16,741,035 (GRCm39)	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