Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Ppp6r1'

30689

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

038581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4634494-4661949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4636286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 768 (V768A)

Ref Sequence

ENSEMBL: ENSMUSP00000066736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055085] [ENSMUST00000064099] [ENSMUST00000205360] [ENSMUST00000205402] [ENSMUST00000206610]

AlphaFold

Q7TSI3

Predicted Effect

probably benign
Transcript: ENSMUST00000055085

SMART Domains

Protein: ENSMUSP00000060237
Gene: ENSMUSG00000045282

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
Pfam:YhhN	47	217	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064099
AA Change: V768A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: V768A

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: ENSMUST00000205360

Predicted Effect

probably benign
Transcript: ENSMUST00000205402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206485

Predicted Effect

probably benign
Transcript: ENSMUST00000206610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206768

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	T	A	11: 25,719,092 (GRCm39)	Y17F	unknown	Het
Aars2	A	G	17: 45,825,476 (GRCm39)	D313G	probably damaging	Het
Abca9	A	T	11: 110,006,273 (GRCm39)	D1277E	probably benign	Het
Adgrl1	G	T	8: 84,661,530 (GRCm39)	A981S	probably damaging	Het
Aff3	T	G	1: 38,244,021 (GRCm39)	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,816,994 (GRCm39)	H78L	probably benign	Het
Bltp1	C	T	3: 37,100,401 (GRCm39)	T4707I	probably damaging	Het
Cacna1g	C	A	11: 94,301,880 (GRCm39)	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,038,709 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,183,161 (GRCm39)	V386A	probably damaging	Het
Cd46	A	G	1: 194,768,472 (GRCm39)	S82P	probably benign	Het
Clic5	A	G	17: 44,581,510 (GRCm39)	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,143,898 (GRCm39)	T529A	probably benign	Het
Col7a1	C	T	9: 108,809,305 (GRCm39)	R2627C	unknown	Het
Cuzd1	G	A	7: 130,913,637 (GRCm39)		probably benign	Het
Cwc27	T	C	13: 104,944,331 (GRCm39)	D50G	possibly damaging	Het
Dhx38	A	G	8: 110,281,813 (GRCm39)	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,565,550 (GRCm39)	E834A	probably damaging	Het
Dsg4	A	G	18: 20,603,936 (GRCm39)	D801G	probably damaging	Het
Dtx1	T	C	5: 120,819,464 (GRCm39)	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,433,265 (GRCm39)	H116L	probably damaging	Het
Fbxw18	T	C	9: 109,517,907 (GRCm39)	I360V	possibly damaging	Het
Fignl2	G	A	15: 100,951,974 (GRCm39)	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196 (GRCm39)	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,727,200 (GRCm39)	C545*	probably null	Het
Gm3336	A	G	8: 71,171,294 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,290 (GRCm39)	N518S	probably benign	Het
Hbs1l	T	A	10: 21,218,440 (GRCm39)	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,523,064 (GRCm39)	S247R	probably benign	Het
Ifnb1	A	T	4: 88,440,981 (GRCm39)	F11I	probably benign	Het
Marf1	T	C	16: 13,969,184 (GRCm39)		probably benign	Het
Myo1f	T	A	17: 33,820,930 (GRCm39)	V879E	probably benign	Het
Naip1	A	G	13: 100,545,656 (GRCm39)	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,382,586 (GRCm39)	E529G	probably damaging	Het
Npm3	T	C	19: 45,736,668 (GRCm39)	E157G	probably damaging	Het
Or10x4	A	G	1: 174,218,775 (GRCm39)	T47A	probably damaging	Het
Or4a67	T	A	2: 88,597,985 (GRCm39)	T225S	possibly damaging	Het
Or4a68	G	T	2: 89,269,740 (GRCm39)	N294K	probably benign	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Prrc1	A	G	18: 57,495,564 (GRCm39)	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,313,105 (GRCm39)	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,811,121 (GRCm39)	V181F	probably damaging	Het
Ror2	T	C	13: 53,286,040 (GRCm39)	N58S	probably damaging	Het
Selplg	G	A	5: 113,958,069 (GRCm39)	T79I	probably damaging	Het
Setd1b	G	A	5: 123,295,500 (GRCm39)	G1023S	unknown	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Skint5	A	G	4: 113,562,793 (GRCm39)	V803A	unknown	Het
Slc25a46	T	C	18: 31,716,319 (GRCm39)	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,657,935 (GRCm39)	I101K	possibly damaging	Het
Spag17	C	A	3: 99,934,906 (GRCm39)	T704K	probably benign	Het
Tas2r144	T	A	6: 42,193,058 (GRCm39)	M266K	possibly damaging	Het
Tasor2	A	G	13: 3,646,842 (GRCm39)	V61A	possibly damaging	Het
Tbc1d31	T	A	15: 57,818,746 (GRCm39)	L783H	probably benign	Het
Tbck	C	A	3: 132,456,993 (GRCm39)		probably benign	Het
Vcan	A	G	13: 89,839,394 (GRCm39)	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,367,987 (GRCm39)	N158K	probably damaging	Het
Vmn2r103	T	A	17: 20,013,121 (GRCm39)	Y81N	probably benign	Het
Vmn2r103	A	G	17: 20,013,726 (GRCm39)	T173A	probably benign	Het
Ylpm1	T	G	12: 85,061,754 (GRCm39)	S552A	unknown	Het
Zdhhc17	A	T	10: 110,817,967 (GRCm39)	Y58*	probably null	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
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
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'- TCAATGGTCACCTGTCCAAGGAGC -3'
(R):5'- ACTGCTACCTTTGACACAGTGCC -3'

Sequencing Primer
(F):5'- ATCCCATGCAGTGTGGC -3'
(R):5'- TGACACAGTGCCTATGGATGC -3'

Posted On

2013-04-24