Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Ppp6r1'

580162

Institutional Source

Beutler Lab

Gene Symbol

Ppp6r1

Ensembl Gene

ENSMUSG00000052296

Gene Name

protein phosphatase 6, regulatory subunit 1

Synonyms

B430201G11Rik, Saps1, Pp6r1, 2010309P17Rik

MMRRC Submission

045560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4634494-4661949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4642899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 519 (V519A)

Ref Sequence

ENSEMBL: ENSMUSP00000066736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064099] [ENSMUST00000205374] [ENSMUST00000206532]

AlphaFold

Q7TSI3

Predicted Effect

probably benign
Transcript: ENSMUST00000064099
AA Change: V519A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: V519A

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
Pfam:SAPS	128	378	4.6e-69	PFAM
Pfam:SAPS	372	519	1.8e-39	PFAM
low complexity region	525	536	N/A	INTRINSIC
low complexity region	618	639	N/A	INTRINSIC
low complexity region	669	681	N/A	INTRINSIC
low complexity region	692	707	N/A	INTRINSIC
low complexity region	842	855	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205374

Predicted Effect

probably benign
Transcript: ENSMUST00000206532

Predicted Effect

probably benign
Transcript: ENSMUST00000206966

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,605,657 (GRCm39)	I702V	probably benign	Het
Adgre5	T	C	8: 84,450,515 (GRCm39)	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,523,330 (GRCm39)	V298A		Het
Akp3	A	G	1: 87,053,201 (GRCm39)	D91G	probably damaging	Het
Ano8	A	G	8: 71,937,642 (GRCm39)		probably null	Het
Blvra	T	C	2: 126,929,243 (GRCm39)	S136P	unknown	Het
Cacul1	T	A	19: 60,568,868 (GRCm39)	M97L	probably benign	Het
Ccdc80	T	C	16: 44,946,542 (GRCm39)	V827A	probably damaging	Het
Cep68	T	C	11: 20,192,166 (GRCm39)	E11G	probably benign	Het
Cfap221	A	T	1: 119,851,322 (GRCm39)	V813E	possibly damaging	Het
Chd6	A	G	2: 160,791,923 (GRCm39)	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,807,783 (GRCm39)	F148S	probably benign	Het
Clca3a2	T	A	3: 144,503,362 (GRCm39)	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,750,513 (GRCm39)	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,400,109 (GRCm39)		probably null	Het
Dmbt1	T	G	7: 130,668,192 (GRCm39)	C483G	unknown	Het
Dnah7b	G	A	1: 46,329,894 (GRCm39)	G3246D	probably damaging	Het
Dnajc3	C	A	14: 119,209,816 (GRCm39)	T297K	probably benign	Het
Dpm3	A	G	3: 89,174,034 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erc1	G	A	6: 119,571,907 (GRCm39)	Q1022*	probably null	Het
Ercc5	T	A	1: 44,187,224 (GRCm39)	M1K	probably null	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fat4	C	A	3: 39,011,576 (GRCm39)	Y2225*	probably null	Het
Frk	G	A	10: 34,423,292 (GRCm39)	W123*	probably null	Het
Gm11568	T	A	11: 99,749,292 (GRCm39)	C166S	unknown	Het
Gpr153	A	G	4: 152,366,858 (GRCm39)	D337G	probably benign	Het
Gpt2	T	C	8: 86,252,235 (GRCm39)	F517L	probably damaging	Het
Gsg1	C	T	6: 135,214,427 (GRCm39)	E361K	probably benign	Het
Hsfy2	G	A	1: 56,676,130 (GRCm39)	R136*	probably null	Het
Insm1	G	A	2: 146,065,738 (GRCm39)	R518H	probably damaging	Het
Kank1	G	A	19: 25,388,193 (GRCm39)	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,825,357 (GRCm39)	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,254,180 (GRCm39)	V199A	probably benign	Het
Lamb1	T	G	12: 31,337,441 (GRCm39)	S391A	probably benign	Het
Larp7-ps	A	T	4: 92,079,506 (GRCm39)	V105E	probably benign	Het
Macf1	T	G	4: 123,303,374 (GRCm39)	D376A	probably benign	Het
Map7d1	C	A	4: 126,128,179 (GRCm39)	R614L	unknown	Het
Mcm8	C	T	2: 132,681,440 (GRCm39)	R667W	probably damaging	Het
Med13l	C	T	5: 118,866,539 (GRCm39)	T531I	probably benign	Het
Mstn	G	T	1: 53,103,128 (GRCm39)	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,434,690 (GRCm39)	R2251K	probably damaging	Het
Myo19	T	C	11: 84,796,463 (GRCm39)	S692P	probably benign	Het
Nipbl	A	T	15: 8,325,120 (GRCm39)	N2514K	probably benign	Het
Nkd2	T	A	13: 73,995,561 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,219 (GRCm39)	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,275,805 (GRCm39)	Y135H	probably benign	Het
Oog3	T	A	4: 143,884,742 (GRCm39)	H398L	probably benign	Het
Or10g9	T	A	9: 39,912,181 (GRCm39)	Y114F	probably benign	Het
Or12j4	C	T	7: 140,045,947 (GRCm39)		probably benign	Het
Or1e29	T	C	11: 73,667,847 (GRCm39)	Y102C	probably damaging	Het
Otogl	A	G	10: 107,657,849 (GRCm39)	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,706,050 (GRCm39)	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,154,610 (GRCm39)	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,803,461 (GRCm39)	D435G	probably benign	Het
Pcnt	G	T	10: 76,254,270 (GRCm39)	T853K	probably benign	Het
Pcnt	T	C	10: 76,254,271 (GRCm39)	T853A	probably benign	Het
Pgghg	T	A	7: 140,522,393 (GRCm39)	S57R	probably benign	Het
Ppm1m	T	C	9: 106,073,810 (GRCm39)	D301G	probably damaging	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 24,063,072 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,640,201 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,316,870 (GRCm39)	V395A	probably damaging	Het
Scrib	A	G	15: 75,929,499 (GRCm39)	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,301,655 (GRCm39)	K45E	probably benign	Het
Slc14a1	T	C	18: 78,154,739 (GRCm39)	S216G	probably benign	Het
Slc25a45	A	G	19: 5,934,997 (GRCm39)	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,567,078 (GRCm39)	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861 (GRCm39)	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,825,870 (GRCm39)	D103N	probably benign	Het
Tcf20	A	T	15: 82,737,935 (GRCm39)	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,184,382 (GRCm39)	S21T	probably benign	Het
Tie1	C	A	4: 118,337,101 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,673,115 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,965,259 (GRCm39)	D193G	possibly damaging	Het
Upk3a	A	T	15: 84,902,225 (GRCm39)		probably null	Het
Vmn2r25	T	C	6: 123,800,101 (GRCm39)	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het
Zbtb2	G	A	10: 4,319,025 (GRCm39)	Q334*	probably null	Het
Zfp653	T	C	9: 21,967,824 (GRCm39)	N494D	probably damaging	Het
Zfp865	A	G	7: 5,034,259 (GRCm39)	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,755,612 (GRCm39)	S1014P	possibly damaging	Het

Other mutations in Ppp6r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01883:Ppp6r1	APN	7	4,642,986 (GRCm39)	splice site	probably null
IGL02232:Ppp6r1	APN	7	4,636,341 (GRCm39)	missense	probably damaging	0.98
IGL02674:Ppp6r1	APN	7	4,649,812 (GRCm39)	missense	probably damaging	1.00
IGL02887:Ppp6r1	APN	7	4,645,211 (GRCm39)	missense	probably damaging	1.00
IGL02990:Ppp6r1	APN	7	4,646,022 (GRCm39)	missense	possibly damaging	0.83
IGL03135:Ppp6r1	APN	7	4,645,159 (GRCm39)	missense	possibly damaging	0.90
IGL03399:Ppp6r1	APN	7	4,646,251 (GRCm39)	missense	probably damaging	1.00
R0375:Ppp6r1	UTSW	7	4,636,286 (GRCm39)	missense	probably benign	0.00
R0412:Ppp6r1	UTSW	7	4,645,213 (GRCm39)	missense	probably damaging	0.98
R0760:Ppp6r1	UTSW	7	4,642,722 (GRCm39)	missense	probably benign	0.00
R0883:Ppp6r1	UTSW	7	4,642,709 (GRCm39)	missense	possibly damaging	0.89
R1478:Ppp6r1	UTSW	7	4,643,377 (GRCm39)	splice site	probably null
R1515:Ppp6r1	UTSW	7	4,646,257 (GRCm39)	missense	probably damaging	0.97
R1768:Ppp6r1	UTSW	7	4,636,691 (GRCm39)	critical splice donor site	probably null
R1772:Ppp6r1	UTSW	7	4,645,030 (GRCm39)	missense	probably benign	0.00
R4017:Ppp6r1	UTSW	7	4,636,743 (GRCm39)	missense	probably benign	0.07
R4519:Ppp6r1	UTSW	7	4,644,045 (GRCm39)	splice site	probably null
R4795:Ppp6r1	UTSW	7	4,644,053 (GRCm39)	missense	possibly damaging	0.66
R4849:Ppp6r1	UTSW	7	4,646,206 (GRCm39)	missense	probably damaging	1.00
R5214:Ppp6r1	UTSW	7	4,646,176 (GRCm39)	missense	probably benign	0.00
R5416:Ppp6r1	UTSW	7	4,642,747 (GRCm39)	missense	possibly damaging	0.96
R5643:Ppp6r1	UTSW	7	4,636,771 (GRCm39)	missense	probably benign	0.30
R5765:Ppp6r1	UTSW	7	4,645,207 (GRCm39)	missense	possibly damaging	0.67
R6126:Ppp6r1	UTSW	7	4,646,376 (GRCm39)	missense	possibly damaging	0.48
R6854:Ppp6r1	UTSW	7	4,635,395 (GRCm39)	missense	probably benign	0.02
R6932:Ppp6r1	UTSW	7	4,636,291 (GRCm39)	missense	possibly damaging	0.84
R7011:Ppp6r1	UTSW	7	4,649,825 (GRCm39)	missense	probably damaging	1.00
R7500:Ppp6r1	UTSW	7	4,639,129 (GRCm39)	missense	probably benign	0.04
R7982:Ppp6r1	UTSW	7	4,646,157 (GRCm39)	missense	probably benign	0.00
R8769:Ppp6r1	UTSW	7	4,644,289 (GRCm39)	missense	probably benign
R9628:Ppp6r1	UTSW	7	4,636,112 (GRCm39)	missense	probably benign	0.01
X0062:Ppp6r1	UTSW	7	4,643,306 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTTGCAATACAGCCTCCTCAG -3'
(R):5'- CTGGGACAACTGCTAAAGGG -3'

Sequencing Primer
(F):5'- CCTCAGGGAAGTTGAACTCCTTGAG -3'
(R):5'- CAACTGCTAAAGGGTAAGGCAC -3'

Posted On

2019-10-07