Incidental Mutation 'IGL03135:Ppp6r1'
ID410487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6r1
Ensembl Gene ENSMUSG00000052296
Gene Nameprotein phosphatase 6, regulatory subunit 1
SynonymsB430201G11Rik, Saps1, 2010309P17Rik, Pp6r1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL03135
Quality Score
Status
Chromosome7
Chromosomal Location4631495-4659019 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4642160 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 236 (D236G)
Ref Sequence ENSEMBL: ENSMUSP00000066736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064099] [ENSMUST00000205374] [ENSMUST00000206532]
Predicted Effect possibly damaging
Transcript: ENSMUST00000064099
AA Change: D236G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: D236G

DomainStartEndE-ValueType
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
AA Change: D246G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206768
Predicted Effect unknown
Transcript: ENSMUST00000206966
AA Change: D97G
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,587,115 M196R possibly damaging Het
Arhgap27 T A 11: 103,339,065 probably null Het
Arl8b A C 6: 108,818,545 N148T probably benign Het
Baz1a A G 12: 54,929,590 F434L probably damaging Het
Birc3 A G 9: 7,849,721 probably benign Het
Brwd1 C A 16: 96,021,258 R1249I probably damaging Het
Cab39l T C 14: 59,519,651 F161L probably benign Het
Ccr8 A T 9: 120,094,623 D268V possibly damaging Het
Col25a1 A T 3: 130,529,683 probably benign Het
Cpn1 A G 19: 43,986,254 L12P possibly damaging Het
Dnah6 A G 6: 73,145,004 I1360T probably benign Het
Dnajb8 A G 6: 88,223,031 E183G probably damaging Het
Dpp8 T A 9: 65,053,040 probably null Het
Fsd1 C A 17: 55,990,416 probably null Het
Grina T A 15: 76,247,962 F28I possibly damaging Het
H2-M3 G A 17: 37,272,433 D262N possibly damaging Het
Hdgfl3 G A 7: 81,893,839 T188M probably damaging Het
Kif18b A G 11: 102,914,260 I353T probably damaging Het
Lrrc41 C A 4: 116,088,531 R148S probably benign Het
Lrrc8e T A 8: 4,235,776 L667Q probably damaging Het
Lrrk1 A G 7: 66,262,890 F1641L probably benign Het
Naaladl1 A T 19: 6,112,356 T443S probably benign Het
Naga C A 15: 82,330,741 V339F probably damaging Het
Nedd4l A G 18: 65,205,670 K702E probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Parp14 A G 16: 35,858,011 M529T probably damaging Het
Parp8 A G 13: 116,910,942 V198A probably benign Het
Pcdhb19 A T 18: 37,498,535 H461L probably benign Het
Psg21 T C 7: 18,654,918 D83G probably benign Het
Ptpru A G 4: 131,818,800 C308R probably damaging Het
Ralgds T A 2: 28,549,088 S696T probably damaging Het
Rttn T A 18: 89,015,150 L695Q probably damaging Het
Scel A T 14: 103,586,514 I393F probably benign Het
Serpina3j T A 12: 104,314,907 I113N probably damaging Het
Slc4a3 C A 1: 75,547,935 probably benign Het
Slc6a11 A T 6: 114,194,609 probably null Het
Slc8a3 C T 12: 81,202,249 V802M probably damaging Het
Smarcal1 T A 1: 72,616,501 probably null Het
Tmprss11c A G 5: 86,237,650 V308A probably damaging Het
Trim10 A G 17: 36,874,221 R279G possibly damaging Het
Trim30a A G 7: 104,411,141 V476A probably damaging Het
Trio T C 15: 27,832,011 probably benign Het
Urgcp G A 11: 5,716,091 T749I possibly damaging Het
Vmn2r60 A G 7: 42,136,594 I274V probably benign Het
Vps11 A G 9: 44,356,356 F40L probably benign Het
Ywhab A G 2: 164,015,275 I157V probably benign Het
Zfp638 G A 6: 83,942,875 R485H probably damaging Het
Zfp944 A G 17: 22,339,756 I170T probably benign Het
Other mutations in Ppp6r1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 unclassified 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
R6126:Ppp6r1 UTSW 7 4643377 missense possibly damaging 0.48
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
X0062:Ppp6r1 UTSW 7 4640307 critical splice donor site probably null
Posted On2016-08-02