Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Ppp6r2'

672524

Institutional Source

Beutler Lab

Gene Symbol

Ppp6r2

Ensembl Gene

ENSMUSG00000036561

Gene Name

protein phosphatase 6, regulatory subunit 2

Synonyms

Pp6r2, Saps2, 1110033O10Rik, 8430411H09Rik, B230107H12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89211553-89287010 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89283072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 830 (V830A)

Ref Sequence

ENSEMBL: ENSMUSP00000086167 (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: V830A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: V830A

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 benign
Transcript: ENSMUST00000228284
AA Change: V830A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	Het

Other mutations in Ppp6r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Ppp6r2	APN	15	89285813	missense	probably benign	0.44
IGL00480:Ppp6r2	APN	15	89265249	splice site	probably benign
IGL01061:Ppp6r2	APN	15	89286015	splice site	probably benign
IGL01116:Ppp6r2	APN	15	89281989	missense	probably damaging	1.00
IGL01317:Ppp6r2	APN	15	89285928	missense	possibly damaging	0.62
IGL01947:Ppp6r2	APN	15	89278726	missense	probably damaging	1.00
IGL01969:Ppp6r2	APN	15	89275510	missense	probably damaging	0.99
IGL01999:Ppp6r2	APN	15	89269952	missense	probably benign	0.09
IGL02634:Ppp6r2	APN	15	89275477	nonsense	probably null
IGL02697:Ppp6r2	APN	15	89256755	missense	probably benign	0.38
IGL02964:Ppp6r2	APN	15	89259175	missense	probably damaging	1.00
IGL03107:Ppp6r2	APN	15	89268545	missense	probably damaging	0.98
IGL03195:Ppp6r2	APN	15	89268555	missense	possibly damaging	0.50
R0020:Ppp6r2	UTSW	15	89259139	missense	probably damaging	1.00
R0020:Ppp6r2	UTSW	15	89259139	missense	probably damaging	1.00
R0183:Ppp6r2	UTSW	15	89285787	missense	probably damaging	0.99
R0745:Ppp6r2	UTSW	15	89265242	critical splice donor site	probably null
R0835:Ppp6r2	UTSW	15	89268582	missense	possibly damaging	0.90
R0959:Ppp6r2	UTSW	15	89274176	missense	possibly damaging	0.81
R1661:Ppp6r2	UTSW	15	89253051	missense	possibly damaging	0.96
R1867:Ppp6r2	UTSW	15	89281938	missense	probably benign	0.01
R2081:Ppp6r2	UTSW	15	89282129	missense	probably benign	0.01
R2102:Ppp6r2	UTSW	15	89278746	missense	probably damaging	1.00
R2291:Ppp6r2	UTSW	15	89275487	missense	probably damaging	1.00
R2900:Ppp6r2	UTSW	15	89281995	missense	probably damaging	1.00
R3805:Ppp6r2	UTSW	15	89265639	missense	probably benign	0.30
R3965:Ppp6r2	UTSW	15	89259114	missense	probably benign	0.20
R4374:Ppp6r2	UTSW	15	89265158	missense	probably damaging	1.00
R4901:Ppp6r2	UTSW	15	89259069	missense	possibly damaging	0.88
R5055:Ppp6r2	UTSW	15	89282949	missense	probably benign	0.01
R5668:Ppp6r2	UTSW	15	89280399	missense	probably damaging	1.00
R5739:Ppp6r2	UTSW	15	89259073	missense	probably benign	0.02
R6026:Ppp6r2	UTSW	15	89282910	missense	probably benign	0.02
R6058:Ppp6r2	UTSW	15	89253252	critical splice donor site	probably null
R6488:Ppp6r2	UTSW	15	89268538	missense	probably benign	0.12
R6631:Ppp6r2	UTSW	15	89253255	splice site	probably null
R6633:Ppp6r2	UTSW	15	89253255	splice site	probably null
R6744:Ppp6r2	UTSW	15	89256661	critical splice acceptor site	probably null
R7149:Ppp6r2	UTSW	15	89262396	missense	probably damaging	1.00
R7754:Ppp6r2	UTSW	15	89256701	missense	probably benign	0.12
R8326:Ppp6r2	UTSW	15	89280447	missense	probably benign	0.05
R8861:Ppp6r2	UTSW	15	89259165	missense	probably damaging	1.00
R8960:Ppp6r2	UTSW	15	89253036	start codon destroyed	probably null	1.00
R9224:Ppp6r2	UTSW	15	89262396	missense	probably damaging	1.00
R9404:Ppp6r2	UTSW	15	89268550	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTGCAGTTGGTCCTACCTCG -3'
(R):5'- CACTGTTGTCTAAGAAGCCCTCTG -3'

Sequencing Primer
(F):5'- CTCGCCTTGTGCCTGGAATG -3'
(R):5'- AGGCACTGTTTTTCTAGAGACAGC -3'

Posted On

2021-04-30