Mutagenetix > Incidental Mutation

Incidental Mutation 'R9460:Ppp5c'

714815

Institutional Source

Beutler Lab

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

PP5, ANP receptor

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16738575-16761812 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 16741137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 313 (Y313*)

Ref Sequence

ENSEMBL: ENSMUSP00000003183 (fasta)

Gene Model

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

AlphaFold

Q60676

Predicted Effect

probably null
Transcript: ENSMUST00000003183
AA Change: Y313*

SMART Domains

Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: Y313*

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

probably null
Transcript: ENSMUST00000142597
AA Change: Y289*

SMART Domains

Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: Y289*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	C	T	17: 57,183,316 (GRCm39)	T19I	probably damaging	Het
Alg1	T	A	16: 5,060,425 (GRCm39)	M382K	probably damaging	Het
Arhgap17	A	G	7: 122,879,286 (GRCm39)	S822P	unknown	Het
Bend7	A	C	2: 4,749,302 (GRCm39)	T140P	probably benign	Het
C1rb	T	G	6: 124,557,865 (GRCm39)	D667E	probably benign	Het
Carmil1	A	G	13: 24,253,750 (GRCm39)	C794R	probably damaging	Het
Cd36	T	C	5: 18,000,608 (GRCm39)	D365G	probably null	Het
Cep164	T	C	9: 45,685,282 (GRCm39)	N825S	probably benign	Het
Cp	T	C	3: 20,018,566 (GRCm39)	L90P		Het
Cpeb2	C	T	5: 43,390,769 (GRCm39)		probably benign	Het
Cramp1	A	G	17: 25,222,281 (GRCm39)	S146P	probably damaging	Het
Csmd3	A	T	15: 47,617,130 (GRCm39)	D1019E		Het
Cyp2d10	T	A	15: 82,289,470 (GRCm39)	D214V	probably benign	Het
Dcaf17	G	C	2: 70,917,695 (GRCm39)	V406L	possibly damaging	Het
Ehmt1	A	G	2: 24,728,791 (GRCm39)	V703A	probably benign	Het
Ermp1	A	C	19: 29,609,916 (GRCm39)	V293G	probably benign	Het
Fancd2os	C	A	6: 113,574,569 (GRCm39)	V146F	probably benign	Het
Galnt12	C	T	4: 47,117,983 (GRCm39)	T426I	probably damaging	Het
Gm11011	T	A	2: 169,429,289 (GRCm39)	T44S	unknown	Het
Gm2832	C	T	14: 41,000,843 (GRCm39)	T27I		Het
Klhl32	A	G	4: 24,649,866 (GRCm39)	V310A	probably benign	Het
Kntc1	T	A	5: 123,941,378 (GRCm39)	C1728*	probably null	Het
Lama2	T	A	10: 27,298,475 (GRCm39)	N207I	probably damaging	Het
Lpar5	A	G	6: 125,058,234 (GRCm39)		probably benign	Het
Map3k8	T	C	18: 4,349,277 (GRCm39)	I14V	probably benign	Het
Marf1	A	T	16: 13,947,526 (GRCm39)	V1151E	probably damaging	Het
Me1	G	A	9: 86,495,685 (GRCm39)	A274V	probably damaging	Het
Mybpc1	A	T	10: 88,372,197 (GRCm39)	I797N	probably damaging	Het
Myo15a	T	A	11: 60,372,566 (GRCm39)		probably null	Het
N4bp2	A	T	5: 65,963,886 (GRCm39)	D645V	probably benign	Het
Nlrp4f	G	T	13: 65,342,006 (GRCm39)	D546E	possibly damaging	Het
Npc1	T	C	18: 12,346,398 (GRCm39)	D266G	possibly damaging	Het
Or4a81	G	A	2: 89,618,778 (GRCm39)	S306L	probably benign	Het
Or8k16	A	G	2: 85,520,359 (GRCm39)	I195M	probably benign	Het
Pcdha12	C	T	18: 37,153,574 (GRCm39)	R98W	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigr	T	C	1: 130,772,403 (GRCm39)	I207T	probably damaging	Het
Plxnc1	T	A	10: 94,700,895 (GRCm39)	E596D	probably benign	Het
Polr1e	C	T	4: 45,018,691 (GRCm39)	P7L	probably benign	Het
Sacs	C	A	14: 61,441,611 (GRCm39)	T1219K	probably benign	Het
Scn3a	A	G	2: 65,300,535 (GRCm39)	V1277A	probably damaging	Het
Serinc5	G	T	13: 92,844,607 (GRCm39)	A450S	possibly damaging	Het
Serinc5	T	C	13: 92,844,619 (GRCm39)	C454R	probably benign	Het
Slc12a6	G	A	2: 112,183,280 (GRCm39)	V771I	probably benign	Het
Slc4a1ap	T	C	5: 31,685,463 (GRCm39)	I247T	probably benign	Het
Snx10	T	A	6: 51,565,888 (GRCm39)	S184R	probably damaging	Het
Tgm2	A	T	2: 157,971,241 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Thsd7b	T	C	1: 130,090,674 (GRCm39)		probably null	Het
Tiam2	G	A	17: 3,487,585 (GRCm39)	G702E	probably damaging	Het
Tmco4	T	A	4: 138,747,387 (GRCm39)	V212D	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vipas39	A	G	12: 87,288,021 (GRCm39)	L482P	probably damaging	Het
Vmn1r5	T	A	6: 56,962,829 (GRCm39)	M168K		Het
Vps13c	T	C	9: 67,837,904 (GRCm39)	L1818S	possibly damaging	Het
Vwa2	A	G	19: 56,886,388 (GRCm39)	I152V	probably benign	Het
Zfp180	G	A	7: 23,804,399 (GRCm39)	G273R	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
R4974:Ppp5c	UTSW	7	16,743,861 (GRCm39)	missense	probably damaging	0.97
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
X0026:Ppp5c	UTSW	7	16,741,035 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCATGATCTAGGGGAAGCAC -3'
(R):5'- TCATTATCAAGGTTCAGTGCCAG -3'

Sequencing Primer
(F):5'- AAGCACGAGCCTCTGTGAG -3'
(R):5'- AGTGCCAGCCAGCTATCATTGAG -3'

Posted On

2022-06-15