Mutagenetix > Incidental Mutation

Incidental Mutation 'R7760:Ppp5c'

597788

Institutional Source

Beutler Lab

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

PP5, ANP receptor

MMRRC Submission

045816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7760 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16738575-16761812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16740274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 387 (S387P)

Ref Sequence

ENSEMBL: ENSMUSP00000003183 (fasta)

Gene Model

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

AlphaFold

Q60676

Predicted Effect

probably damaging
Transcript: ENSMUST00000003183
AA Change: S387P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: S387P

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: S363P

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

0.8702

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	T	14: 25,873,251 (GRCm39)	Q162*	probably null	Het
Arg1	T	G	10: 24,803,361 (GRCm39)		probably benign	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Capg	A	G	6: 72,534,769 (GRCm39)	R199G	probably damaging	Het
Ceacam1	T	A	7: 25,171,450 (GRCm39)	E338V	probably damaging	Het
Clec4d	A	G	6: 123,247,300 (GRCm39)	N148D	probably benign	Het
Ctr9	T	G	7: 110,645,808 (GRCm39)	I653R	probably damaging	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
Dnah7b	T	A	1: 46,240,413 (GRCm39)	L1510Q	probably damaging	Het
Efcab5	T	A	11: 77,042,752 (GRCm39)	E136D	probably benign	Het
Elfn2	C	T	15: 78,558,041 (GRCm39)	A169T	probably benign	Het
Elp1	A	G	4: 56,790,892 (GRCm39)	V287A	probably benign	Het
Esrp2	T	A	8: 106,860,102 (GRCm39)	E326D	probably benign	Het
Fbrs	T	C	7: 127,088,572 (GRCm39)	V718A	probably damaging	Het
Fbxl21	C	T	13: 56,684,816 (GRCm39)	R307C	probably benign	Het
Fbxl21	T	C	13: 56,674,747 (GRCm39)	S33P	probably benign	Het
Gatad2b	C	T	3: 90,261,776 (GRCm39)	R461W	probably damaging	Het
Gm19410	T	A	8: 36,269,491 (GRCm39)	C1109S	probably damaging	Het
Gm6882	T	A	7: 21,161,409 (GRCm39)	D153V	probably damaging	Het
Golga3	A	G	5: 110,353,716 (GRCm39)	E918G	probably benign	Het
Greb1	T	C	12: 16,773,417 (GRCm39)	N219S	probably benign	Het
Grpel1	G	T	5: 36,627,986 (GRCm39)	R89L	probably damaging	Het
Ighv5-12	T	A	12: 113,665,795 (GRCm39)	Q101L	probably benign	Het
Ldb3	T	A	14: 34,264,460 (GRCm39)	N590I	probably damaging	Het
Man2c1	T	C	9: 57,046,647 (GRCm39)	V636A	probably benign	Het
Mblac2	G	T	13: 81,859,996 (GRCm39)	V117L	probably benign	Het
Muc6	T	A	7: 141,237,322 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,834,973 (GRCm39)	E773G	possibly damaging	Het
Ngef	T	C	1: 87,468,495 (GRCm39)	D88G	probably benign	Het
Nipbl	T	C	15: 8,388,186 (GRCm39)	E478G	probably damaging	Het
Or2t6	T	C	14: 14,175,905 (GRCm38)	Y59C	probably damaging	Het
Pbx4	C	A	8: 70,285,445 (GRCm39)	D29E	probably benign	Het
Pcdhgb5	A	G	18: 37,864,690 (GRCm39)	I162V	not run	Het
Pdcd11	G	A	19: 47,101,637 (GRCm39)	V941M	possibly damaging	Het
Pigr	A	T	1: 130,774,368 (GRCm39)	R449S	possibly damaging	Het
Plcb2	T	C	2: 118,541,869 (GRCm39)	T914A	probably benign	Het
Rnf7l	T	C	10: 63,257,316 (GRCm39)	K68R	probably damaging	Het
Rtkn2	T	G	10: 67,841,439 (GRCm39)	S196A	probably damaging	Het
Sec31a	A	G	5: 100,540,487 (GRCm39)	F400L	probably damaging	Het
Senp7	A	T	16: 55,959,442 (GRCm39)	M251L	probably benign	Het
Slc6a5	T	C	7: 49,596,365 (GRCm39)	F612L	probably benign	Het
Slc7a9	T	C	7: 35,156,500 (GRCm39)	I314T	possibly damaging	Het
Smc5	A	C	19: 23,213,254 (GRCm39)	S553A	probably benign	Het
Spaca3	T	A	11: 80,755,389 (GRCm39)	V133D	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tarbp1	C	T	8: 127,179,546 (GRCm39)	R664H	not run	Het
Tlk2	T	C	11: 105,169,993 (GRCm39)	I674T	probably damaging	Het
Tnxb	A	T	17: 34,931,911 (GRCm39)	E2148V	probably damaging	Het
Tom1l2	T	C	11: 60,165,791 (GRCm39)	S59G	probably benign	Het
Traj46	A	T	14: 54,409,813 (GRCm39)	H7L		Het
Traj46	T	G	14: 54,409,814 (GRCm39)	H7Q		Het
Trav6-4	T	A	14: 53,692,103 (GRCm39)	L70Q	possibly damaging	Het
Trmt1l	C	T	1: 151,318,425 (GRCm39)	T245I	possibly damaging	Het
Wac	T	A	18: 7,921,913 (GRCm39)	C601S	probably benign	Het
Wnt3	T	A	11: 103,702,266 (GRCm39)	H145Q	probably benign	Het
Zfp948	T	C	17: 21,808,628 (GRCm39)	C607R	probably damaging	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
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'- GGCTGCGGATGATATAGTCCAG -3'
(R):5'- AAAGTTCCATCCAGCAGCAG -3'

Sequencing Primer
(F):5'- CAGTTGATTCTCCTCCAGGAAGG -3'
(R):5'- CAGCAGGCTTATAATGGATAGACTG -3'

Posted On

2019-11-26