Incidental Mutation 'R5698:Ppp1r17'
ID 450783
Institutional Source Beutler Lab
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 # R5698 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 55994482-56009674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56003529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 114 (E114V)
Ref Sequence ENSEMBL: ENSMUSP00000059708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052827]
AlphaFold Q9Z2E4
Predicted Effect probably damaging
Transcript: ENSMUST00000052827
AA Change: E114V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059708
Gene: ENSMUSG00000002930
AA Change: E114V

DomainStartEndE-ValueType
internal_repeat_1 34 84 1.12e-11 PROSPERO
internal_repeat_1 85 135 1.12e-11 PROSPERO
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik A G 11: 3,926,366 (GRCm39) K334E possibly damaging Het
Ache G A 5: 137,288,821 (GRCm39) V176M probably damaging Het
Acss3 T C 10: 106,784,605 (GRCm39) D539G probably damaging Het
Adam6b T A 12: 113,455,083 (GRCm39) D633E probably benign Het
Aldh16a1 G A 7: 44,803,831 (GRCm39) probably benign Het
Amigo2 G A 15: 97,143,607 (GRCm39) Q272* probably null Het
Aoc1l1 A G 6: 48,953,256 (GRCm39) T394A possibly damaging Het
Appbp2 A T 11: 85,100,925 (GRCm39) H171Q probably damaging Het
Arhgef18 A G 8: 3,489,499 (GRCm39) D277G probably damaging Het
Armc8 A G 9: 99,417,873 (GRCm39) V95A probably benign Het
Atp6v0a4 C T 6: 38,027,442 (GRCm39) probably null Het
Atp8a1 A T 5: 67,924,496 (GRCm39) N289K probably benign Het
Cand2 C T 6: 115,768,704 (GRCm39) L505F probably damaging Het
Ccnt2 A G 1: 127,730,965 (GRCm39) K614R probably benign Het
Col25a1 A G 3: 130,272,632 (GRCm39) probably null Het
Copa T A 1: 171,946,511 (GRCm39) L976* probably null Het
Ddx39b T C 17: 35,470,287 (GRCm39) V267A probably benign Het
Dpp4 T A 2: 62,164,655 (GRCm39) Q709L probably damaging Het
Eno4 A G 19: 58,956,904 (GRCm39) probably null Het
Exoc3 A G 13: 74,322,134 (GRCm39) L647P probably benign Het
Eya4 T C 10: 23,015,975 (GRCm39) S308G possibly damaging Het
Fbxo41 T C 6: 85,454,638 (GRCm39) T693A possibly damaging Het
Fcgbp A G 7: 27,791,447 (GRCm39) T903A possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Frem2 A G 3: 53,559,926 (GRCm39) I1527T possibly damaging Het
H13 T A 2: 152,530,875 (GRCm39) I220N probably damaging Het
Has2 T C 15: 56,531,312 (GRCm39) R468G probably damaging Het
Ighmbp2 A G 19: 3,324,538 (GRCm39) S243P probably damaging Het
Irs1 T C 1: 82,266,455 (GRCm39) H587R probably benign Het
Kcnk1 C T 8: 126,752,144 (GRCm39) T250M probably damaging Het
Kif9 T C 9: 110,339,532 (GRCm39) V458A probably benign Het
Krt14 T C 11: 100,096,451 (GRCm39) T208A probably benign Het
Mybpc3 C A 2: 90,955,194 (GRCm39) H349Q possibly damaging Het
Neurl3 T A 1: 36,305,587 (GRCm39) T207S possibly damaging Het
Nol9 T C 4: 152,135,031 (GRCm39) V388A probably damaging Het
Notch3 T C 17: 32,376,961 (GRCm39) N315D probably damaging Het
Oas1h G T 5: 121,009,045 (GRCm39) A252S probably damaging Het
Or13c7b C A 4: 43,821,183 (GRCm39) M59I probably damaging Het
Pcbp1 G A 6: 86,502,134 (GRCm39) T255M possibly damaging Het
Plec A G 15: 76,083,808 (GRCm39) V18A probably benign Het
Scamp5 A T 9: 57,352,716 (GRCm39) M151K possibly damaging Het
Sestd1 T C 2: 77,048,512 (GRCm39) Y135C possibly damaging Het
Slc22a21 T G 11: 53,842,175 (GRCm39) K534N probably benign Het
Slc25a12 T C 2: 71,112,917 (GRCm39) E448G probably damaging Het
Slco3a1 A G 7: 73,996,566 (GRCm39) L280P probably damaging Het
Sppl2b C A 10: 80,701,879 (GRCm39) probably null Het
Srd5a2 T C 17: 74,334,014 (GRCm39) E135G possibly damaging Het
Tfg A T 16: 56,521,467 (GRCm39) M183K probably damaging Het
Ticrr G A 7: 79,328,881 (GRCm39) M673I probably benign Het
Tm4sf20 T G 1: 82,745,958 (GRCm39) M61L probably benign Het
Ttll8 A T 15: 88,823,209 (GRCm39) S85T possibly damaging Het
Uggt2 G A 14: 119,280,138 (GRCm39) S780F probably damaging Het
Uroc1 T C 6: 90,324,302 (GRCm39) L442P probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Znrf3 A G 11: 5,239,006 (GRCm39) probably benign Het
Zswim2 C A 2: 83,755,527 (GRCm39) D125Y possibly damaging Het
Other mutations in Ppp1r17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02277:Ppp1r17 APN 6 56,003,123 (GRCm39) missense probably damaging 1.00
IGL02534:Ppp1r17 APN 6 56,003,445 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GAAAGCTACGTTGTTTGCCTTC -3'
(R):5'- AATGCAACACAGCTTGCTGG -3'

Sequencing Primer
(F):5'- TCCGGTACCAGCCCACAATG -3'
(R):5'- TTGCTGGGCCAGGACACAG -3'
Posted On 2017-01-03