Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Ppp6r2'

483081

Institutional Source

Beutler Lab

Gene Symbol

Ppp6r2

Ensembl Gene

ENSMUSG00000036561

Gene Name

protein phosphatase 6, regulatory subunit 2

Synonyms

Pp6r2, 8430411H09Rik, 1110033O10Rik, B230107H12Rik, Saps2

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R6058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89095756-89171213 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 89137455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088788] [ENSMUST00000226221] [ENSMUST00000226221] [ENSMUST00000227951] [ENSMUST00000228284]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088788
AA Change: V73A

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: V73A

Domain	Start	End	E-Value	Type
Pfam:SAPS	128	365	1.7e-73	PFAM
Pfam:SAPS	361	534	2.4e-47	PFAM
low complexity region	606	618	N/A	INTRINSIC
low complexity region	788	802	N/A	INTRINSIC
low complexity region	867	900	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000226221

Predicted Effect

probably null
Transcript: ENSMUST00000226221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226779

Predicted Effect

probably benign
Transcript: ENSMUST00000227951

Predicted Effect

probably benign
Transcript: ENSMUST00000228284
AA Change: V73A

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	probably damaging	Het

Other mutations in Ppp6r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Ppp6r2	APN	15	89,170,016 (GRCm39)	missense	probably benign	0.44
IGL00480:Ppp6r2	APN	15	89,149,452 (GRCm39)	splice site	probably benign
IGL01061:Ppp6r2	APN	15	89,170,218 (GRCm39)	splice site	probably benign
IGL01116:Ppp6r2	APN	15	89,166,192 (GRCm39)	missense	probably damaging	1.00
IGL01317:Ppp6r2	APN	15	89,170,131 (GRCm39)	missense	possibly damaging	0.62
IGL01947:Ppp6r2	APN	15	89,162,929 (GRCm39)	missense	probably damaging	1.00
IGL01969:Ppp6r2	APN	15	89,159,713 (GRCm39)	missense	probably damaging	0.99
IGL01999:Ppp6r2	APN	15	89,154,155 (GRCm39)	missense	probably benign	0.09
IGL02634:Ppp6r2	APN	15	89,159,680 (GRCm39)	nonsense	probably null
IGL02697:Ppp6r2	APN	15	89,140,958 (GRCm39)	missense	probably benign	0.38
IGL02964:Ppp6r2	APN	15	89,143,378 (GRCm39)	missense	probably damaging	1.00
IGL03107:Ppp6r2	APN	15	89,152,748 (GRCm39)	missense	probably damaging	0.98
IGL03195:Ppp6r2	APN	15	89,152,758 (GRCm39)	missense	possibly damaging	0.50
R0020:Ppp6r2	UTSW	15	89,143,342 (GRCm39)	missense	probably damaging	1.00
R0020:Ppp6r2	UTSW	15	89,143,342 (GRCm39)	missense	probably damaging	1.00
R0183:Ppp6r2	UTSW	15	89,169,990 (GRCm39)	missense	probably damaging	0.99
R0745:Ppp6r2	UTSW	15	89,149,445 (GRCm39)	critical splice donor site	probably null
R0835:Ppp6r2	UTSW	15	89,152,785 (GRCm39)	missense	possibly damaging	0.90
R0959:Ppp6r2	UTSW	15	89,158,379 (GRCm39)	missense	possibly damaging	0.81
R1661:Ppp6r2	UTSW	15	89,137,254 (GRCm39)	missense	possibly damaging	0.96
R1867:Ppp6r2	UTSW	15	89,166,141 (GRCm39)	missense	probably benign	0.01
R2081:Ppp6r2	UTSW	15	89,166,332 (GRCm39)	missense	probably benign	0.01
R2102:Ppp6r2	UTSW	15	89,162,949 (GRCm39)	missense	probably damaging	1.00
R2291:Ppp6r2	UTSW	15	89,159,690 (GRCm39)	missense	probably damaging	1.00
R2900:Ppp6r2	UTSW	15	89,166,198 (GRCm39)	missense	probably damaging	1.00
R3805:Ppp6r2	UTSW	15	89,149,842 (GRCm39)	missense	probably benign	0.30
R3965:Ppp6r2	UTSW	15	89,143,317 (GRCm39)	missense	probably benign	0.20
R4374:Ppp6r2	UTSW	15	89,149,361 (GRCm39)	missense	probably damaging	1.00
R4901:Ppp6r2	UTSW	15	89,143,272 (GRCm39)	missense	possibly damaging	0.88
R5055:Ppp6r2	UTSW	15	89,167,152 (GRCm39)	missense	probably benign	0.01
R5668:Ppp6r2	UTSW	15	89,164,602 (GRCm39)	missense	probably damaging	1.00
R5739:Ppp6r2	UTSW	15	89,143,276 (GRCm39)	missense	probably benign	0.02
R6026:Ppp6r2	UTSW	15	89,167,113 (GRCm39)	missense	probably benign	0.02
R6488:Ppp6r2	UTSW	15	89,152,741 (GRCm39)	missense	probably benign	0.12
R6631:Ppp6r2	UTSW	15	89,137,458 (GRCm39)	splice site	probably null
R6633:Ppp6r2	UTSW	15	89,137,458 (GRCm39)	splice site	probably null
R6744:Ppp6r2	UTSW	15	89,140,864 (GRCm39)	critical splice acceptor site	probably null
R7149:Ppp6r2	UTSW	15	89,146,599 (GRCm39)	missense	probably damaging	1.00
R7754:Ppp6r2	UTSW	15	89,140,904 (GRCm39)	missense	probably benign	0.12
R8326:Ppp6r2	UTSW	15	89,164,650 (GRCm39)	missense	probably benign	0.05
R8812:Ppp6r2	UTSW	15	89,167,275 (GRCm39)	missense	probably benign
R8861:Ppp6r2	UTSW	15	89,143,368 (GRCm39)	missense	probably damaging	1.00
R8960:Ppp6r2	UTSW	15	89,137,239 (GRCm39)	start codon destroyed	probably null	1.00
R9224:Ppp6r2	UTSW	15	89,146,599 (GRCm39)	missense	probably damaging	1.00
R9404:Ppp6r2	UTSW	15	89,152,753 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTGACAAGCTCCTGGACAAG -3'
(R):5'- AGCAGTGTCTCTCAATTGCC -3'

Sequencing Primer
(F):5'- GGAACATGTGACCCTGCAG -3'
(R):5'- AGTGTCTCTCAATTGCCCCAAC -3'

Posted On

2017-07-14