Incidental Mutation 'IGL02534:Ppp1r17'
ID 297426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r17
Ensembl Gene ENSMUSG00000002930
Gene Name protein phosphatase 1, regulatory subunit 17
Synonyms G-substrate, Gsbs
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02534
Quality Score
Status
Chromosome 6
Chromosomal Location 55994482-56009674 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 56003445 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z2E4
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: 95,506,030 (GRCm39) E186K possibly damaging Het
Ajm1 G T 2: 25,467,043 (GRCm39) S956* probably null Het
Anks1b A G 10: 90,730,979 (GRCm39) I932V probably benign Het
Atg2b A G 12: 105,609,526 (GRCm39) Y1361H probably damaging Het
Bcl9 G T 3: 97,122,545 (GRCm39) L85M probably damaging Het
Bcl9l T G 9: 44,417,036 (GRCm39) S291R probably benign Het
Cpa2 T A 6: 30,550,767 (GRCm39) D201E probably benign Het
Efna5 A T 17: 62,920,384 (GRCm39) C164* probably null Het
Fhip2b A T 14: 70,823,128 (GRCm39) H642Q probably damaging Het
Fhip2b T A 14: 70,823,630 (GRCm39) H580L probably benign Het
Gm6316 A G 12: 69,967,763 (GRCm39) probably benign Het
Gucy2g A G 19: 55,229,500 (GRCm39) S57P probably damaging Het
Inf2 C A 12: 112,576,930 (GRCm39) A968E unknown Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Mcm5 T A 8: 75,840,861 (GRCm39) V222E probably damaging Het
Muc5b A G 7: 141,398,456 (GRCm39) Y287C unknown Het
Or12e9 T G 2: 87,202,598 (GRCm39) S241A probably benign Het
Or13a24 A T 7: 140,154,554 (GRCm39) M163L probably benign Het
Or14c39 G A 7: 86,343,939 (GRCm39) V92M probably benign Het
Or8u10 A G 2: 85,915,713 (GRCm39) M136T probably damaging Het
Pabpc1l A G 2: 163,869,410 (GRCm39) D70G probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Rasd1 A G 11: 59,855,615 (GRCm39) M6T possibly damaging Het
Rsph14 C A 10: 74,793,466 (GRCm39) V345F probably damaging Het
Slc11a2 T A 15: 100,299,207 (GRCm39) Q121L probably benign Het
Smc5 A T 19: 23,205,536 (GRCm39) probably null Het
Tanc2 T C 11: 105,725,994 (GRCm39) L386P probably damaging Het
Tmem9b A T 7: 109,336,164 (GRCm39) L160Q probably damaging Het
Trim32 A G 4: 65,532,906 (GRCm39) T488A possibly damaging Het
Tubb1 A G 2: 174,297,462 (GRCm39) I24V probably benign Het
Upf1 A T 8: 70,788,302 (GRCm39) probably null Het
Zfp263 T A 16: 3,564,279 (GRCm39) probably benign Het
Other mutations in Ppp1r17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02277:Ppp1r17 APN 6 56,003,123 (GRCm39) missense probably damaging 1.00
R1846:Ppp1r17 UTSW 6 55,999,412 (GRCm39) missense possibly damaging 0.94
R4859:Ppp1r17 UTSW 6 56,003,449 (GRCm39) missense probably damaging 1.00
R5698:Ppp1r17 UTSW 6 56,003,529 (GRCm39) missense probably damaging 1.00
R6924:Ppp1r17 UTSW 6 56,003,007 (GRCm39) missense probably damaging 0.99
R7752:Ppp1r17 UTSW 6 55,999,441 (GRCm39) missense probably damaging 1.00
R8123:Ppp1r17 UTSW 6 55,999,443 (GRCm39) missense probably damaging 1.00
R9004:Ppp1r17 UTSW 6 56,008,513 (GRCm39) missense probably damaging 1.00
R9342:Ppp1r17 UTSW 6 56,003,524 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16