Incidental Mutation 'IGL02534:Ppp1r17'
ID297426
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 #IGL02534
Quality Score
Status
Chromosome6
Chromosomal Location56017497-56032689 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 56026460 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 86 (S86*)
Ref Sequence ENSEMBL: ENSMUSP00000059708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052827]
Predicted Effect probably null
Transcript: ENSMUST00000052827
AA Change: S86*
SMART Domains Protein: ENSMUSP00000059708
Gene: ENSMUSG00000002930
AA Change: S86*

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
Aggf1 C T 13: 95,369,522 E186K possibly damaging Het
Anks1b A G 10: 90,895,117 I932V probably benign Het
Atg2b A G 12: 105,643,267 Y1361H probably damaging Het
Bcl9 G T 3: 97,215,229 L85M probably damaging Het
Bcl9l T G 9: 44,505,739 S291R probably benign Het
Cpa2 T A 6: 30,550,768 D201E probably benign Het
Efna5 A T 17: 62,613,389 C164* probably null Het
Fam160b2 A T 14: 70,585,688 H642Q probably damaging Het
Fam160b2 T A 14: 70,586,190 H580L probably benign Het
Gm6316 A G 12: 69,920,989 probably benign Het
Gm996 G T 2: 25,577,031 S956* probably null Het
Gucy2g A G 19: 55,241,068 S57P probably damaging Het
Inf2 C A 12: 112,610,496 A968E unknown Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mcm5 T A 8: 75,114,233 V222E probably damaging Het
Muc5b A G 7: 141,844,719 Y287C unknown Het
Olfr1037 A G 2: 86,085,369 M136T probably damaging Het
Olfr1121 T G 2: 87,372,254 S241A probably benign Het
Olfr292 G A 7: 86,694,731 V92M probably benign Het
Olfr538 A T 7: 140,574,641 M163L probably benign Het
Pabpc1l A G 2: 164,027,490 D70G probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Rasd1 A G 11: 59,964,789 M6T possibly damaging Het
Rsph14 C A 10: 74,957,634 V345F probably damaging Het
Slc11a2 T A 15: 100,401,326 Q121L probably benign Het
Smc5 A T 19: 23,228,172 probably null Het
Tanc2 T C 11: 105,835,168 L386P probably damaging Het
Tmem9b A T 7: 109,736,957 L160Q probably damaging Het
Trim32 A G 4: 65,614,669 T488A possibly damaging Het
Tubb1 A G 2: 174,455,669 I24V probably benign Het
Upf1 A T 8: 70,335,652 probably null Het
Zfp263 T A 16: 3,746,415 probably benign Het
Other mutations in Ppp1r17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02277:Ppp1r17 APN 6 56026138 missense probably damaging 1.00
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