Mutagenetix > Incidental Mutation

Incidental Mutation 'R0835:Ppp6r2'

77853

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

039014-MU

Accession Numbers

Essential gene?

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

Stock #

R0835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89095756-89171213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89152785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 309 (E309K)

Ref Sequence

ENSEMBL: ENSMUSP00000154087 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088788
AA Change: E309K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: E309K

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

possibly damaging
Transcript: ENSMUST00000228284
AA Change: E309K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.2%
20x: 90.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	T	6: 146,855,036 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,065,007 (GRCm39)	T555A	probably benign	Het
Abca4	A	T	3: 121,919,862 (GRCm39)	D1048V	probably damaging	Het
Abcf2	G	T	5: 24,779,251 (GRCm39)	T99N	probably damaging	Het
Acan	A	T	7: 78,763,980 (GRCm39)	S2119C	probably damaging	Het
Adgre4	G	A	17: 56,106,637 (GRCm39)	C292Y	probably damaging	Het
Alk	A	G	17: 72,176,837 (GRCm39)	F1489S	probably damaging	Het
Ampd2	A	G	3: 107,983,818 (GRCm39)	V573A	possibly damaging	Het
Aoc1	T	C	6: 48,882,448 (GRCm39)	F130S	probably damaging	Het
Bbs2	A	T	8: 94,801,887 (GRCm39)	I554N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,517 (GRCm39)	H76R	probably benign	Het
Cdc14a	G	T	3: 116,122,171 (GRCm39)	N216K	probably benign	Het
Cep126	T	C	9: 8,130,224 (GRCm39)	Y69C	probably damaging	Het
Cep135	A	T	5: 76,763,553 (GRCm39)	R514S	probably benign	Het
Cfi	A	T	3: 129,662,191 (GRCm39)	Y390F	probably damaging	Het
Chd8	T	C	14: 52,441,482 (GRCm39)	D870G	probably benign	Het
Clptm1	A	G	7: 19,369,599 (GRCm39)	V437A	possibly damaging	Het
Coro2b	T	C	9: 62,333,119 (GRCm39)	N422S	possibly damaging	Het
Coro7	T	C	16: 4,450,118 (GRCm39)	E577G	probably benign	Het
Crh	G	A	3: 19,748,528 (GRCm39)	P38L	probably benign	Het
Ctif	T	A	18: 75,568,407 (GRCm39)	D577V	probably damaging	Het
Deup1	T	A	9: 15,511,047 (GRCm39)	Q244L	probably damaging	Het
Dhx16	A	G	17: 36,192,581 (GRCm39)	E171G	probably damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dync1i2	C	T	2: 71,081,316 (GRCm39)	L508F	probably damaging	Het
Dync2h1	T	A	9: 7,116,642 (GRCm39)		probably null	Het
E2f4	C	T	8: 106,027,140 (GRCm39)	Q235*	probably null	Het
Eif2b3	A	G	4: 116,916,002 (GRCm39)	H203R	probably damaging	Het
Epha5	A	T	5: 84,534,101 (GRCm39)	W77R	probably damaging	Het
Gpx6	C	T	13: 21,501,238 (GRCm39)	P109S	probably damaging	Het
Gsdmc4	A	T	15: 63,765,649 (GRCm39)	V300E	probably damaging	Het
Gspt1	A	C	16: 11,056,802 (GRCm39)	S198A	probably benign	Het
Ift70a2	T	C	2: 75,808,494 (GRCm39)	N6S	probably benign	Het
Itpk1	C	T	12: 102,641,707 (GRCm39)	V39M	probably damaging	Het
Kremen2	G	T	17: 23,961,811 (GRCm39)	P232Q	probably damaging	Het
Lamtor4	C	A	5: 138,257,320 (GRCm39)	T74K	probably benign	Het
Mbtd1	T	A	11: 93,822,665 (GRCm39)	F492I	probably benign	Het
Mroh1	G	T	15: 76,336,083 (GRCm39)	V1486F	probably damaging	Het
Myg1	G	A	15: 102,240,537 (GRCm39)	V76M	probably damaging	Het
Myo16	G	T	8: 10,322,766 (GRCm39)	Q65H	probably damaging	Het
Ncapg	A	G	5: 45,838,790 (GRCm39)	E487G	probably damaging	Het
Ncoa5	T	C	2: 164,844,714 (GRCm39)	E332G	probably damaging	Het
Nek6	T	A	2: 38,459,643 (GRCm39)	I162N	possibly damaging	Het
Nwd2	C	A	5: 63,957,473 (GRCm39)	R268S	probably damaging	Het
Or4c11	T	C	2: 88,695,345 (GRCm39)	V132A	probably benign	Het
Or9a7	T	C	6: 40,521,272 (GRCm39)	I214V	probably benign	Het
Palm3	T	G	8: 84,754,776 (GRCm39)	S141A	probably benign	Het
Pbrm1	T	C	14: 30,789,536 (GRCm39)	F728L	probably damaging	Het
Phf3	A	G	1: 30,869,632 (GRCm39)	V472A	probably benign	Het
Plekha5	T	A	6: 140,514,576 (GRCm39)	L35*	probably null	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ptpn6	T	A	6: 124,704,499 (GRCm39)		probably null	Het
Rasgrf1	T	C	9: 89,882,824 (GRCm39)	V882A	probably benign	Het
Ryr3	T	G	2: 112,480,483 (GRCm39)	E4335D	probably benign	Het
Slc12a5	T	A	2: 164,835,958 (GRCm39)	I892N	probably damaging	Het
Slc22a2	G	A	17: 12,831,318 (GRCm39)	M369I	probably benign	Het
Sox10	A	T	15: 79,040,641 (GRCm39)	Y300N	probably damaging	Het
Speg	T	C	1: 75,352,318 (GRCm39)	F79L	probably benign	Het
Sult1b1	T	A	5: 87,665,311 (GRCm39)	I208L	probably benign	Het
Syt9	A	G	7: 107,105,737 (GRCm39)	N460S	probably benign	Het
Tecpr1	T	A	5: 144,149,410 (GRCm39)	N339I	possibly damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Ttn	T	C	2: 76,725,105 (GRCm39)		probably benign	Het
Upk3bl	G	T	5: 136,086,185 (GRCm39)	R40S	probably benign	Het
Usp28	T	C	9: 48,912,824 (GRCm39)	I25T	probably damaging	Het
Vmn2r27	A	G	6: 124,177,583 (GRCm39)	Y474H	probably damaging	Het
Vps13a	A	T	19: 16,712,246 (GRCm39)		probably null	Het
Wdr36	A	T	18: 32,982,135 (GRCm39)	N371I	possibly damaging	Het
Wnt7b	A	G	15: 85,421,978 (GRCm39)	F228S	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Zan	T	G	5: 137,406,659 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,942,559 (GRCm39)	D578G	possibly damaging	Het
Zfyve19	T	A	2: 119,041,266 (GRCm39)	S61T	probably benign	Het
Zfyve9	T	C	4: 108,575,866 (GRCm39)	D405G	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
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
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'- ACAGCAAGGCATCAAGTCCTGTG -3'
(R):5'- ATCTGCCCAGTGGTTTTCCAGC -3'

Sequencing Primer
(F):5'- CGAGTAATGTTCCTTTTCAGACATGG -3'
(R):5'- CTAGCACCTCGAAGGGC -3'

Posted On

2013-10-16