Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02794:Ppp5c'

359878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

ANP receptor, PP5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

17004640-17027924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17006960 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 361 (V361A)

Ref Sequence

ENSEMBL: ENSMUSP00000003183 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000003183
AA Change: V361A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: V361A

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: V337A

SMART Domains

Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: V337A

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

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,411	C1082S	probably benign	Het
Akt2	G	T	7: 27,629,381	R176L	probably benign	Het
Aldh16a1	A	G	7: 45,145,594	Y484H	probably damaging	Het
Apeh	A	G	9: 108,092,010	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,244,086	M481V	probably benign	Het
Atraid	G	A	5: 31,052,870	S135N	probably damaging	Het
Camta2	C	T	11: 70,675,658	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,171,748	N545S	probably benign	Het
Cic	A	G	7: 25,285,644	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,313,066	M4K	unknown	Het
Crnkl1	C	T	2: 145,930,612	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,936,551	C114S	probably benign	Het
Dsc2	A	T	18: 20,041,731	Y496N	probably damaging	Het
Dst	T	C	1: 34,270,829	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,268,120	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928	N767S	probably benign	Het
Gm1527	A	G	3: 28,895,680	T30A	unknown	Het
Gorasp2	C	A	2: 70,679,494	Y166*	probably null	Het
Gucy2c	T	A	6: 136,713,148	Q744L	probably damaging	Het
Heg1	A	T	16: 33,726,622	N593I	probably damaging	Het
Ice1	T	A	13: 70,609,159	S236C	possibly damaging	Het
Il12b	T	C	11: 44,407,981	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,146,963	V6I	probably benign	Het
Kcna6	A	G	6: 126,738,552	V458A	probably damaging	Het
Kif13b	G	A	14: 64,803,440	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,970,365	D116G	possibly damaging	Het
Lama2	T	C	10: 27,041,231	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,651,879	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,791,935	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,859,351	S105T	probably damaging	Het
Mga	T	A	2: 119,946,289	I1768N	possibly damaging	Het
Mical3	C	A	6: 121,007,309	G202V	probably damaging	Het
Mylk	A	T	16: 34,986,541	I1719F	probably benign	Het
Nusap1	T	A	2: 119,630,386	F120Y	possibly damaging	Het
Olfr1079	T	C	2: 86,538,148	T256A	possibly damaging	Het
Olfr671	T	A	7: 104,975,389	M203L	probably benign	Het
Olfr923	T	A	9: 38,828,215	C175S	probably damaging	Het
Pidd1	T	C	7: 141,443,108	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,654,571	M671L	probably benign	Het
Prune2	T	C	19: 17,119,361	V743A	probably benign	Het
Siglec1	C	A	2: 131,075,969	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,809,087	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,909,508	Y537*	probably null	Het
Smarca4	T	A	9: 21,673,342		probably benign	Het
Smg6	C	T	11: 75,053,934	P1109S	probably damaging	Het
Sorl1	T	A	9: 42,063,774	N513Y	probably damaging	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Trim72	T	C	7: 128,004,532	C17R	probably damaging	Het
Ttc3	T	C	16: 94,467,926	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 22,852,209	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 22,852,206	S97I	probably damaging	Het
Vmn1r211	T	A	13: 22,852,207	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,995,415	S596T	probably benign	Het
Zfp609	A	G	9: 65,704,320	S454P	possibly damaging	Het

Other mutations in Ppp5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Ppp5c	APN	7	17008630	missense	possibly damaging	0.87
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
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

Posted On

2015-12-18