Mutagenetix > Incidental Mutation

Incidental Mutation 'R6855:Ppp5c'

535201

Institutional Source

Beutler Lab

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

PP5, ANP receptor

MMRRC Submission

045024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6855 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16738575-16761812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 16740891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 359 (D359A)

Ref Sequence

ENSEMBL: ENSMUSP00000003183 (fasta)

Gene Model

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

AlphaFold

Q60676

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003183
AA Change: D359A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: D359A

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: D335A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (57/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,114,844 (GRCm39)	S228F	probably damaging	Het
Cdh23	A	T	10: 60,141,901 (GRCm39)	M3062K	possibly damaging	Het
Cdh8	G	C	8: 99,916,849 (GRCm39)	S422C	probably damaging	Het
Col15a1	G	T	4: 47,245,544 (GRCm39)	K98N	probably damaging	Het
Cyp3a57	T	A	5: 145,309,376 (GRCm39)	L238H	probably damaging	Het
Dchs2	G	A	3: 83,255,501 (GRCm39)	R2399H	probably benign	Het
Dennd4c	A	C	4: 86,754,694 (GRCm39)	H1568P	probably benign	Het
Dkk2	T	G	3: 131,883,683 (GRCm39)	C194W	probably damaging	Het
Dnm2	C	T	9: 21,387,881 (GRCm39)	R369C	probably damaging	Het
Efcab7	T	G	4: 99,757,777 (GRCm39)	L308*	probably null	Het
Elp2	T	A	18: 24,739,934 (GRCm39)	N53K	possibly damaging	Het
Eml6	T	C	11: 29,701,381 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,468,286 (GRCm39)	E913*	probably null	Het
Fam186a	T	A	15: 99,852,756 (GRCm39)	Y154F	unknown	Het
Fhl3	G	A	4: 124,601,315 (GRCm39)	D113N	probably benign	Het
Fryl	A	T	5: 73,216,843 (GRCm39)	M2149K	probably damaging	Het
Gbf1	T	C	19: 46,268,380 (GRCm39)	Y1251H	probably benign	Het
Ghitm	C	A	14: 36,847,859 (GRCm39)	G262W	probably null	Het
Gm14325	T	A	2: 177,474,635 (GRCm39)	H148L	probably damaging	Het
Grxcr1	C	A	5: 68,189,437 (GRCm39)	N69K	possibly damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrp1b	G	C	2: 40,518,708 (GRCm39)	H175D	possibly damaging	Het
Lrrc2	T	A	9: 110,782,250 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,904,151 (GRCm39)	F291L	probably benign	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Nfil3	T	A	13: 53,122,641 (GRCm39)	K88*	probably null	Het
Nit1	A	C	1: 171,171,130 (GRCm39)	V194G	probably damaging	Het
Nup210	T	C	6: 91,017,835 (GRCm39)	M1052V	probably benign	Het
Nup210l	A	G	3: 90,044,231 (GRCm39)	T511A	probably benign	Het
Nwd2	G	T	5: 63,961,794 (GRCm39)	M459I	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,513 (GRCm39)	N3D	probably benign	Het
Peg3	A	C	7: 6,711,797 (GRCm39)	S1142A	probably benign	Het
Phf3	T	A	1: 30,859,204 (GRCm39)	K959N	probably damaging	Het
Piezo2	C	T	18: 63,223,950 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,764,036 (GRCm39)	I365V	possibly damaging	Het
Plec	T	A	15: 76,070,818 (GRCm39)	Q860L	probably damaging	Het
Poglut2	C	A	1: 44,149,987 (GRCm39)	E401*	probably null	Het
Pvr	C	T	7: 19,643,139 (GRCm39)	A365T	possibly damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rasa3	A	T	8: 13,635,029 (GRCm39)	L430Q	probably damaging	Het
Rims2	T	G	15: 39,208,911 (GRCm39)	V198G	probably benign	Het
Rnf38	C	T	4: 44,149,224 (GRCm39)	R41H	probably damaging	Het
Rptn	G	A	3: 93,305,558 (GRCm39)	V964I	probably benign	Het
Rrp1b	A	G	17: 32,271,719 (GRCm39)	D263G	probably benign	Het
Sgip1	T	C	4: 102,819,573 (GRCm39)	C560R	probably damaging	Het
Shisal2b	T	C	13: 105,000,214 (GRCm39)	Q3R	probably benign	Het
Sidt1	A	C	16: 44,065,706 (GRCm39)	I734S	probably null	Het
Ssh1	G	T	5: 114,080,636 (GRCm39)	D931E	probably damaging	Het
Thumpd2	C	A	17: 81,351,599 (GRCm39)	R274I	probably damaging	Het
Tpi1	T	C	6: 124,789,426 (GRCm39)	D183G	probably damaging	Het
Trnt1	T	A	6: 106,754,883 (GRCm39)	Y205N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,235 (GRCm39)	V376M	probably damaging	Het
Usp34	T	C	11: 23,402,569 (GRCm39)	V2454A	possibly damaging	Het
Uspl1	C	A	5: 149,124,655 (GRCm39)	S24Y	probably damaging	Het
Vmn1r58	A	C	7: 5,413,451 (GRCm39)	W260G	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfp868	A	C	8: 70,064,230 (GRCm39)	H368Q	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
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'- ACCCCAGAGTTCATTTCACC -3'
(R):5'- ACACAGCCCAGATGTATGAGC -3'

Sequencing Primer
(F):5'- AGAGTTCATTTCACCCACATCATC -3'
(R):5'- AGCCCAGATGTATGAGCTCTTCAG -3'

Posted On

2018-09-12