Mutagenetix > Incidental Mutation

Incidental Mutation 'R7011:Ppp6r1'

545012

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

045112-MU

Accession Numbers

Essential gene?

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

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4634494-4661949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4649825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 47 (C47R)

Ref Sequence

ENSEMBL: ENSMUSP00000145575 (fasta)

Gene Model

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

AlphaFold

Q7TSI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000064099
AA Change: C37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: C37R

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 damaging
Transcript: ENSMUST00000205374
AA Change: C37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206532
AA Change: C47R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206966

Meta Mutation Damage Score

0.9646

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,033,845 (GRCm39)	P886S	probably benign	Het
Anapc1	C	T	2: 128,490,601 (GRCm39)		probably null	Het
Ankrd34c	C	A	9: 89,611,001 (GRCm39)	G447*	probably null	Het
Apbb1ip	A	T	2: 22,725,943 (GRCm39)	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,613,935 (GRCm39)	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,853,689 (GRCm39)	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,295,427 (GRCm39)	Q679K	probably benign	Het
Btnl2	A	G	17: 34,582,487 (GRCm39)	E351G	probably damaging	Het
Cd209f	T	A	8: 4,154,859 (GRCm39)	T80S	probably benign	Het
Cdc16	A	G	8: 13,819,451 (GRCm39)	E349G	probably damaging	Het
Cfap53	A	T	18: 74,462,564 (GRCm39)	D436V	probably benign	Het
Crhr2	A	T	6: 55,076,195 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,388,887 (GRCm39)	K226E	probably damaging	Het
Ddr2	A	T	1: 169,809,672 (GRCm39)	D768E	probably damaging	Het
Dhx8	T	C	11: 101,632,346 (GRCm39)	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,885,753 (GRCm39)		probably null	Het
Eif4ebp1	G	A	8: 27,763,372 (GRCm39)	R55Q	probably damaging	Het
Fbh1	T	A	2: 11,767,774 (GRCm39)	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,177,242 (GRCm39)	E304D	probably benign	Het
Gabrb2	T	C	11: 42,517,488 (GRCm39)	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	G	T	14: 33,917,393 (GRCm39)	H126N	probably null	Het
Gucy1a1	A	G	3: 82,016,422 (GRCm39)	S189P	probably damaging	Het
Htr1d	T	C	4: 136,170,317 (GRCm39)	M182T	probably benign	Het
Lipc	A	G	9: 70,726,236 (GRCm39)	F73L	probably benign	Het
Liph	A	G	16: 21,802,847 (GRCm39)	I74T	probably damaging	Het
Lrif1	T	G	3: 106,639,601 (GRCm39)	Y229D	probably damaging	Het
Magel2	C	T	7: 62,028,281 (GRCm39)	T395I	possibly damaging	Het
Magi3	T	C	3: 104,013,070 (GRCm39)	N139S	probably damaging	Het
Man2c1	T	A	9: 57,045,117 (GRCm39)	V336E	probably damaging	Het
Mapk12	A	T	15: 89,019,803 (GRCm39)	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,166,595 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,638,574 (GRCm39)	Y653*	probably null	Het
Muc16	T	A	9: 18,548,839 (GRCm39)	H5818L	probably benign	Het
Muc16	T	A	9: 18,548,747 (GRCm39)	I5849F	probably benign	Het
Ndufa10	A	G	1: 92,398,581 (GRCm39)	S68P	probably damaging	Het
Nedd1	C	A	10: 92,526,635 (GRCm39)	L503F	probably benign	Het
Nr1i3	A	G	1: 171,041,927 (GRCm39)	M4V	probably benign	Het
Or12e9	G	A	2: 87,202,604 (GRCm39)	A243T	possibly damaging	Het
Or2av9	T	A	11: 58,380,970 (GRCm39)	I204F	possibly damaging	Het
Or4f14b	A	T	2: 111,775,031 (GRCm39)	F257I	probably benign	Het
Or9i2	T	C	19: 13,816,403 (GRCm39)	I45V	probably benign	Het
Pcdh18	A	T	3: 49,709,231 (GRCm39)	S695T	probably benign	Het
Pcdha1	T	C	18: 37,063,588 (GRCm39)	I84T	probably damaging	Het
Plek	T	A	11: 16,944,760 (GRCm39)	D90V	possibly damaging	Het
Psg27	G	C	7: 18,290,798 (GRCm39)	N468K	probably benign	Het
Ptchd4	G	A	17: 42,814,759 (GRCm39)	E887K	probably benign	Het
Rabgap1	C	T	2: 37,430,492 (GRCm39)	L678F	probably damaging	Het
Rmdn3	T	C	2: 118,968,904 (GRCm39)	Y429C	probably damaging	Het
Ros1	A	T	10: 52,056,272 (GRCm39)	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,815,495 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,639,352 (GRCm39)	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,648,753 (GRCm39)	D167V	probably benign	Het
Smurf2	A	G	11: 106,724,610 (GRCm39)	L511P	probably benign	Het
Stbd1	A	T	5: 92,752,977 (GRCm39)	K156*	probably null	Het
Tenm4	G	T	7: 96,545,342 (GRCm39)	G2453*	probably null	Het
Tent4a	C	T	13: 69,648,199 (GRCm39)	G489S	probably damaging	Het
Tpr	A	G	1: 150,309,523 (GRCm39)	K1760E	probably damaging	Het
Triobp	T	A	15: 78,862,923 (GRCm39)	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,777,650 (GRCm39)	E679G	probably damaging	Het
Ucn3	T	G	13: 3,991,421 (GRCm39)	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,224,567 (GRCm39)	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,770,969 (GRCm39)	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,345,925 (GRCm39)	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,493,861 (GRCm39)	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,187,186 (GRCm39)	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127 (GRCm39)	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,658,495 (GRCm39)	P472L	probably benign	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
R7486:Ppp6r1	UTSW	7	4,642,899 (GRCm39)	missense	probably benign	0.17
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'- TGAAGAGATGAGCTGTGATCC -3'
(R):5'- ACTGTGACAGTGCCTCATTC -3'

Sequencing Primer
(F):5'- AGCTGTGATCCTTTAAAGGGC -3'
(R):5'- GACAGTGCCTCATTCAGCTAGATG -3'

Posted On

2019-05-13