Mutagenetix > Incidental Mutation

Incidental Mutation 'R5416:Ppp6r1'

427727

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

042985-MU

Accession Numbers

Essential gene?

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

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4634494-4661949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4642747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 532 (D532E)

Ref Sequence

ENSEMBL: ENSMUSP00000066736 (fasta)

Gene Model

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

AlphaFold

Q7TSI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064099
AA Change: D532E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: D532E

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

noncoding transcript
Transcript: ENSMUST00000206307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206391

Predicted Effect

probably benign
Transcript: ENSMUST00000206532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206768

Predicted Effect

probably benign
Transcript: ENSMUST00000206966

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,871,331 (GRCm39)	E689D	probably damaging	Het
Acsl6	A	G	11: 54,227,997 (GRCm39)	E339G	probably benign	Het
Adcy3	G	A	12: 4,259,308 (GRCm39)	E861K	probably damaging	Het
Adrm1	C	T	2: 179,817,930 (GRCm39)	T394I	probably benign	Het
Adsl	T	A	15: 80,836,384 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,551 (GRCm39)	C1854S	probably damaging	Het
C87436	A	G	6: 86,442,832 (GRCm39)	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,341,525 (GRCm39)	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccr1	G	T	9: 123,764,413 (GRCm39)	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,809 (GRCm39)	Y90C	probably damaging	Het
Chadl	T	C	15: 81,578,100 (GRCm39)	R510G	probably benign	Het
Clcnkb	T	C	4: 141,141,211 (GRCm39)	T115A	probably benign	Het
Clptm1	C	A	7: 19,367,741 (GRCm39)		probably benign	Het
Col24a1	A	T	3: 145,020,786 (GRCm39)	R386*	probably null	Het
Ctsj	G	T	13: 61,152,337 (GRCm39)	L10M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx40	T	C	11: 86,688,517 (GRCm39)	D302G	probably benign	Het
Edrf1	T	C	7: 133,243,131 (GRCm39)	F166L	possibly damaging	Het
Epha1	A	T	6: 42,342,805 (GRCm39)	M248K	probably damaging	Het
Evpl	C	A	11: 116,125,085 (GRCm39)	V126L	probably benign	Het
Fam83d	T	C	2: 158,627,552 (GRCm39)	C414R	possibly damaging	Het
Fat2	T	C	11: 55,194,514 (GRCm39)	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,646,113 (GRCm39)	T283I	probably benign	Het
Fuca1	A	G	4: 135,650,291 (GRCm39)	T121A	probably damaging	Het
Gm13941	A	T	2: 110,925,079 (GRCm39)	S175T	unknown	Het
Gpr107	T	A	2: 31,075,560 (GRCm39)	I357N	probably damaging	Het
Gpr161	T	A	1: 165,149,030 (GRCm39)	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,526,466 (GRCm39)	F327L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itgb7	A	T	15: 102,125,744 (GRCm39)	D628E	probably benign	Het
Nwd1	A	G	8: 73,393,322 (GRCm39)	D236G	possibly damaging	Het
Or56b2j	C	T	7: 104,352,923 (GRCm39)	L50F	probably benign	Het
Or6d14	A	T	6: 116,534,166 (GRCm39)	Y260F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,490,008 (GRCm39)	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,182,107 (GRCm39)	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,673,416 (GRCm39)	T1018I	probably damaging	Het
Prkdc	T	C	16: 15,623,814 (GRCm39)	L3259P	probably damaging	Het
Prkg2	A	T	5: 99,091,326 (GRCm39)	D641E	probably benign	Het
Psg26	T	C	7: 18,216,525 (GRCm39)	T105A	probably benign	Het
Ptprs	T	C	17: 56,742,724 (GRCm39)	T473A	probably damaging	Het
Pwp2	G	T	10: 78,018,835 (GRCm39)	N57K	probably damaging	Het
Rnf216	G	T	5: 143,001,526 (GRCm39)	C733*	probably null	Het
Serpina1f	T	A	12: 103,660,203 (GRCm39)	K26N	possibly damaging	Het
Sez6l2	T	A	7: 126,561,058 (GRCm39)	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,724,607 (GRCm39)	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,365,433 (GRCm39)	S117P	probably benign	Het
Sorl1	A	T	9: 41,913,932 (GRCm39)	C1332*	probably null	Het
Specc1	T	C	11: 62,009,735 (GRCm39)	V497A	probably benign	Het
Tmem204	T	C	17: 25,277,300 (GRCm39)	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,037,849 (GRCm39)		probably null	Het
Ttll5	G	A	12: 86,059,602 (GRCm39)	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,852,476 (GRCm39)	T681I	probably damaging	Het
Ubqln3	C	T	7: 103,790,879 (GRCm39)	V404I	probably benign	Het
Yeats2	T	C	16: 20,030,319 (GRCm39)	S919P	probably benign	Het
Zfp575	C	T	7: 24,286,147 (GRCm39)	G3D	probably benign	Het
Zfp644	C	T	5: 106,766,294 (GRCm39)		silent	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
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'- TCCTCATCATTAAAGCCAAAGTGG -3'
(R):5'- AGCATTTGTGTCAGGACCCC -3'

Sequencing Primer
(F):5'- TCAATGAAGGCTGAGGTCATGC -3'
(R):5'- CTGGCCGAGACCAACAAGAAG -3'

Posted On

2016-09-01