Mutagenetix > Incidental Mutations

Incidental Mutation 'R6126:Ppp6r1'

487392

Institutional Source

Beutler Lab

Gene Symbol

Ppp6r1

Ensembl Gene

ENSMUSG00000052296

Gene Name

protein phosphatase 6, regulatory subunit 1

Synonyms

B430201G11Rik, Saps1, 2010309P17Rik, Pp6r1

MMRRC Submission

044273-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4631495-4659019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4643377 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 136 (T136A)

Ref Sequence

ENSEMBL: ENSMUSP00000066736 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064099
AA Change: T136A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: T136A

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
AA Change: T136A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206391

Predicted Effect

probably benign
Transcript: ENSMUST00000206532
AA Change: T146A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206768

Predicted Effect

probably benign
Transcript: ENSMUST00000206966

Meta Mutation Damage Score

0.1623

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dst	T	A	1: 34,228,183	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313	R72H	unknown	Het
Gm906	G	T	13: 50,246,290	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011		probably null	Het
Mnx1	G	T	5: 29,478,112	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887		probably null	Het
Olfr530	T	G	7: 140,373,253	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457		probably benign	Het
Panx1	T	A	9: 15,007,790	I258F	probably benign	Het
Pask	T	C	1: 93,314,359	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824	H844R	probably benign	Het
Rab35	A	G	5: 115,645,708	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr1	A	C	7: 29,076,239	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Tex15	A	G	8: 33,573,563	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348		probably benign	Het
Zfp292	T	C	4: 34,808,497	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het

Other mutations in Ppp6r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01883:Ppp6r1	APN	7	4639987	splice site	probably null
IGL02232:Ppp6r1	APN	7	4633342	missense	probably damaging	0.98
IGL02674:Ppp6r1	APN	7	4646813	missense	probably damaging	1.00
IGL02887:Ppp6r1	APN	7	4642212	missense	probably damaging	1.00
IGL02990:Ppp6r1	APN	7	4643023	missense	possibly damaging	0.83
IGL03135:Ppp6r1	APN	7	4642160	missense	possibly damaging	0.90
IGL03399:Ppp6r1	APN	7	4643252	missense	probably damaging	1.00
R0375:Ppp6r1	UTSW	7	4633287	missense	probably benign	0.00
R0412:Ppp6r1	UTSW	7	4642214	missense	probably damaging	0.98
R0760:Ppp6r1	UTSW	7	4639723	missense	probably benign	0.00
R0883:Ppp6r1	UTSW	7	4639710	missense	possibly damaging	0.89
R1478:Ppp6r1	UTSW	7	4640378	splice site	probably null
R1515:Ppp6r1	UTSW	7	4643258	missense	probably damaging	0.97
R1768:Ppp6r1	UTSW	7	4633692	critical splice donor site	probably null
R1772:Ppp6r1	UTSW	7	4642031	missense	probably benign	0.00
R4017:Ppp6r1	UTSW	7	4633744	missense	probably benign	0.07
R4519:Ppp6r1	UTSW	7	4641046	splice site	probably null
R4795:Ppp6r1	UTSW	7	4641054	missense	possibly damaging	0.66
R4849:Ppp6r1	UTSW	7	4643207	missense	probably damaging	1.00
R5214:Ppp6r1	UTSW	7	4643177	missense	probably benign	0.00
R5416:Ppp6r1	UTSW	7	4639748	missense	possibly damaging	0.96
R5643:Ppp6r1	UTSW	7	4633772	missense	probably benign	0.30
R5765:Ppp6r1	UTSW	7	4642208	missense	possibly damaging	0.67
R6854:Ppp6r1	UTSW	7	4632396	missense	probably benign	0.02
R6932:Ppp6r1	UTSW	7	4633292	missense	possibly damaging	0.84
R7011:Ppp6r1	UTSW	7	4646826	missense	probably damaging	1.00
R7486:Ppp6r1	UTSW	7	4639900	missense	probably benign	0.17
R7500:Ppp6r1	UTSW	7	4636130	missense	probably benign	0.04
R7982:Ppp6r1	UTSW	7	4643158	missense	probably benign	0.00
R8769:Ppp6r1	UTSW	7	4641290	missense	probably benign
X0062:Ppp6r1	UTSW	7	4640307	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATTGAAGACATCCTGCCG -3'
(R):5'- TGTAGCCTGTGAAATCCTGACC -3'

Sequencing Primer
(F):5'- TGAGGCCGCTCCACACAAG -3'
(R):5'- GTGAAATCCTGACCTCTGATGTGC -3'

Posted On

2017-10-10