Mutagenetix > Incidental Mutation

Incidental Mutation 'R1867:Ppp6r2'

208875

Institutional Source

Beutler Lab

Gene Symbol

Ppp6r2

Ensembl Gene

ENSMUSG00000036561

Gene Name

protein phosphatase 6, regulatory subunit 2

Synonyms

Pp6r2, 8430411H09Rik, 1110033O10Rik, B230107H12Rik, Saps2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89095756-89171213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89166141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 715 (A715E)

Ref Sequence

ENSEMBL: ENSMUSP00000154087 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088788
AA Change: A715E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: A715E

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

noncoding transcript
Transcript: ENSMUST00000226875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227011

Predicted Effect

probably benign
Transcript: ENSMUST00000228284
AA Change: A715E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
Abca4	T	A	3: 121,899,010 (GRCm39)	I664N	probably damaging	Het
Acin1	T	C	14: 54,881,718 (GRCm39)	D335G	probably damaging	Het
Acoxl	A	G	2: 127,719,707 (GRCm39)	Y156C	probably damaging	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Ago1	A	G	4: 126,335,029 (GRCm39)	Y398H	probably damaging	Het
Aldob	A	G	4: 49,543,835 (GRCm39)	V49A	possibly damaging	Het
Arhgap18	A	G	10: 26,722,026 (GRCm39)	E71G	probably damaging	Het
Asb12	G	T	X: 94,513,950 (GRCm39)	H307N	probably damaging	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
AY358078	T	C	14: 52,037,504 (GRCm39)	M1T	probably null	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brpf3	A	G	17: 29,026,342 (GRCm39)	M472V	probably benign	Het
Bsn	A	G	9: 107,983,918 (GRCm39)	S3379P	unknown	Het
Cap2	T	C	13: 46,793,555 (GRCm39)	V333A	probably damaging	Het
Cd207	T	A	6: 83,652,635 (GRCm39)	D165V	probably damaging	Het
Cfap210	A	T	2: 69,612,181 (GRCm39)		probably null	Het
Cmtr1	A	G	17: 29,893,148 (GRCm39)	T496A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cstb	A	G	10: 78,263,273 (GRCm39)	*99W	probably null	Het
Cstdc6	T	G	16: 36,142,148 (GRCm39)	D76A	possibly damaging	Het
Ddx11	G	A	17: 66,442,934 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,671,985 (GRCm39)	M990T	possibly damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Fmn1	A	G	2: 113,539,783 (GRCm39)	E1326G	probably damaging	Het
Focad	A	T	4: 88,096,326 (GRCm39)	D236V	probably damaging	Het
Fsd1	G	A	17: 56,298,254 (GRCm39)	S193N	probably benign	Het
Gm4922	T	A	10: 18,660,211 (GRCm39)	R170S	possibly damaging	Het
Gm5129	T	C	5: 29,940,654 (GRCm39)		probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hspbap1	A	T	16: 35,621,934 (GRCm39)	Y93F	possibly damaging	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Il1rap	A	T	16: 26,541,676 (GRCm39)	H639L	probably damaging	Het
Inhbc	A	T	10: 127,193,416 (GRCm39)	V200E	probably benign	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Kif23	C	A	9: 61,826,243 (GRCm39)	A929S	possibly damaging	Het
Kmt2b	A	T	7: 30,274,083 (GRCm39)	V2207E	possibly damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Mcmdc2	T	C	1: 10,001,030 (GRCm39)	V435A	probably damaging	Het
Mecom	A	G	3: 30,563,577 (GRCm39)		probably null	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mmp16	A	T	4: 18,116,013 (GRCm39)	D539V	probably benign	Het
Mpp1	A	G	X: 74,168,975 (GRCm39)		probably null	Het
Mpp2	C	T	11: 101,955,493 (GRCm39)	E86K	probably benign	Het
Mtor	T	A	4: 148,539,089 (GRCm39)	F195L	probably damaging	Het
Myo3a	T	C	2: 22,404,657 (GRCm39)	I663T	probably benign	Het
Nlrp5	G	A	7: 23,123,407 (GRCm39)	G756E	possibly damaging	Het
Nudt18	T	C	14: 70,817,335 (GRCm39)	L255P	probably damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,320,524 (GRCm39)	I205N	possibly damaging	Het
Or6c66	A	T	10: 129,461,621 (GRCm39)	I103K	probably damaging	Het
Or7g20	G	A	9: 18,946,562 (GRCm39)	A48T	probably benign	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Pan2	A	G	10: 128,149,050 (GRCm39)	D506G	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Pcdhgc5	T	G	18: 37,954,471 (GRCm39)	S582A	possibly damaging	Het
Pdik1l	T	C	4: 134,006,222 (GRCm39)	D70G	probably damaging	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Pms1	C	T	1: 53,228,546 (GRCm39)	V901I	probably benign	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Pole	A	G	5: 110,482,063 (GRCm39)	E135G	probably benign	Het
Prickle4	T	G	17: 48,001,044 (GRCm39)	H174P	possibly damaging	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Prss32	C	T	17: 24,072,868 (GRCm39)	T33M	probably benign	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rbbp6	T	C	7: 122,596,252 (GRCm39)	V598A	probably damaging	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rbm4b	A	G	19: 4,812,331 (GRCm39)	T247A	probably benign	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Sema4f	T	C	6: 82,894,824 (GRCm39)	D457G	possibly damaging	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Serpina3a	A	T	12: 104,084,886 (GRCm39)	I94L	probably benign	Het
Skida1	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	2: 18,051,155 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Sntg2	T	C	12: 30,286,650 (GRCm39)	N315D	probably benign	Het
Snx10	T	A	6: 51,552,890 (GRCm39)	V11E	probably damaging	Het
Spta1	A	G	1: 174,047,405 (GRCm39)	E1683G	probably benign	Het
Ssc5d	A	T	7: 4,931,506 (GRCm39)	R238W	probably damaging	Het
Ssh1	A	T	5: 114,081,512 (GRCm39)	F617L	probably damaging	Het
Taf1	T	G	X: 100,606,563 (GRCm39)	M1254R	probably damaging	Het
Tcirg1	A	G	19: 3,948,835 (GRCm39)	L450P	probably damaging	Het
Ticam1	C	A	17: 56,578,718 (GRCm39)	A126S	probably benign	Het
Tnxb	T	A	17: 34,890,821 (GRCm39)	V388E	probably damaging	Het
Tomm5	A	G	4: 45,107,939 (GRCm39)	L32P	probably damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	G	9: 48,920,494 (GRCm39)	D240E	probably benign	Het
Usp34	T	C	11: 23,311,593 (GRCm39)	Y462H	possibly damaging	Het
Utp14b	C	A	1: 78,643,148 (GRCm39)	Q349K	probably damaging	Het
Utp20	G	T	10: 88,585,305 (GRCm39)	D2586E	probably benign	Het
Vmn1r173	A	G	7: 23,402,660 (GRCm39)	I298M	unknown	Het
Vmn1r37	T	A	6: 66,708,461 (GRCm39)	I29K	probably benign	Het
Vmn2r23	G	A	6: 123,679,874 (GRCm39)	G32D	probably damaging	Het
Xpo7	A	T	14: 70,931,431 (GRCm39)	F296I	probably damaging	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp455	G	T	13: 67,355,509 (GRCm39)	R194L	probably benign	Het
Zfp663	T	C	2: 165,194,651 (GRCm39)	T523A	possibly 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
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
R6058:Ppp6r2	UTSW	15	89,137,455 (GRCm39)	critical splice donor site	probably null
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'- ATTCCTGGTCAGCTCTGATGAC -3'
(R):5'- CATTGCTGTGGTCCATGTCC -3'

Sequencing Primer
(F):5'- CCCCGCTATTCATCTACGTGAGAG -3'
(R):5'- TGGTCCATGTCCACAGGAGAG -3'

Posted On

2014-06-30