Incidental Mutation 'IGL02277:Ppp1r17'
ID287374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r17
Ensembl Gene ENSMUSG00000002930
Gene Nameprotein phosphatase 1, regulatory subunit 17
SynonymsGsbs, G-substrate
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02277
Quality Score
Status
Chromosome6
Chromosomal Location56017497-56032689 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56026138 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 71 (D71G)
Ref Sequence ENSEMBL: ENSMUSP00000059708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052827]
Predicted Effect probably damaging
Transcript: ENSMUST00000052827
AA Change: D71G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059708
Gene: ENSMUSG00000002930
AA Change: D71G

DomainStartEndE-ValueType
internal_repeat_1 34 84 1.12e-11 PROSPERO
internal_repeat_1 85 135 1.12e-11 PROSPERO
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C T 9: 57,258,425 G222D probably benign Het
Abcc6 T C 7: 46,001,061 D625G probably benign Het
Akr1c12 C T 13: 4,272,269 R258Q probably damaging Het
Akr1c20 T A 13: 4,514,405 E36D probably benign Het
Csn2 A G 5: 87,698,022 probably benign Het
Dennd5a T C 7: 109,897,969 I1084V possibly damaging Het
Dlg1 A G 16: 31,790,264 I259V probably damaging Het
Dpysl5 A G 5: 30,788,781 I344V probably damaging Het
Fcrl6 A G 1: 172,599,119 C87R probably damaging Het
Fras1 A G 5: 96,588,118 E524G probably benign Het
Gabpb2 A G 3: 95,189,284 V270A probably benign Het
Gm5591 T C 7: 38,520,432 D339G probably damaging Het
Gm5591 T A 7: 38,519,038 I804F possibly damaging Het
Ighv2-5 T A 12: 113,685,507 T109S possibly damaging Het
Ints4 T A 7: 97,487,458 L119Q probably damaging Het
Kansl3 A T 1: 36,348,947 D386E possibly damaging Het
Kdm3b A T 18: 34,823,664 H1224L probably damaging Het
Macf1 C A 4: 123,486,704 R1523L probably damaging Het
Myo1f A G 17: 33,579,861 probably null Het
Nup188 A G 2: 30,326,511 T776A possibly damaging Het
Olfr1305 T A 2: 111,873,580 I92F possibly damaging Het
Olfr1373 T A 11: 52,145,362 H56L probably damaging Het
Olfr357 G A 2: 36,997,184 probably null Het
Plxnb1 T A 9: 109,112,133 L1660Q probably damaging Het
Ptprt T C 2: 161,547,381 Q1264R probably damaging Het
Rgl3 C T 9: 21,974,109 V642M probably damaging Het
Slc26a2 T C 18: 61,198,980 T460A probably damaging Het
Smtnl2 T A 11: 72,391,373 M395L probably damaging Het
St3gal5 A T 6: 72,142,200 T99S possibly damaging Het
Unc5b T C 10: 60,774,742 N421S probably benign Het
Zcchc17 G A 4: 130,327,221 T179M probably benign Het
Zfp369 T C 13: 65,284,932 S79P probably damaging Het
Other mutations in Ppp1r17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02534:Ppp1r17 APN 6 56026460 nonsense probably null
R1846:Ppp1r17 UTSW 6 56022427 missense possibly damaging 0.94
R4859:Ppp1r17 UTSW 6 56026464 missense probably damaging 1.00
R5698:Ppp1r17 UTSW 6 56026544 missense probably damaging 1.00
R6924:Ppp1r17 UTSW 6 56026022 missense probably damaging 0.99
R7752:Ppp1r17 UTSW 6 56022456 missense probably damaging 1.00
Posted On2015-04-16