Incidental Mutation 'R7752:Ppp1r17'
ID 597291
Institutional Source Beutler Lab
Gene Symbol Ppp1r17
Ensembl Gene ENSMUSG00000002930
Gene Name protein phosphatase 1, regulatory subunit 17
Synonyms G-substrate, Gsbs
MMRRC Submission 045808-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7752 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 55994482-56009674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55999441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 25 (D25N)
Ref Sequence ENSEMBL: ENSMUSP00000059708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052827]
AlphaFold Q9Z2E4
Predicted Effect probably damaging
Transcript: ENSMUST00000052827
AA Change: D25N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059708
Gene: ENSMUSG00000002930
AA Change: D25N

DomainStartEndE-ValueType
internal_repeat_1 34 84 1.12e-11 PROSPERO
internal_repeat_1 85 135 1.12e-11 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Akap13 T A 7: 75,327,006 (GRCm39) N668K possibly damaging Het
Aox4 G A 1: 58,293,107 (GRCm39) V868I not run Het
Ccdc39 T C 3: 33,886,766 (GRCm39) R281G possibly damaging Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cfhr2 T A 1: 139,741,322 (GRCm39) I218F probably damaging Het
Clcn4 T C 7: 7,296,936 (GRCm39) K234R probably benign Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Dcp1b G T 6: 119,152,318 (GRCm39) R22L possibly damaging Het
Ddx6 T G 9: 44,538,960 (GRCm39) F256C probably damaging Het
Diras1 C T 10: 80,857,895 (GRCm39) V119M probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Farp1 G C 14: 121,495,359 (GRCm39) E605Q probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gcn1 T A 5: 115,753,627 (GRCm39) L2326Q probably damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gpr4 C A 7: 18,956,340 (GRCm39) H87Q probably damaging Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Il36b C T 2: 24,048,826 (GRCm39) T77M possibly damaging Het
Inf2 A G 12: 112,576,118 (GRCm39) E865G unknown Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Lcmt1 G T 7: 122,969,030 (GRCm39) M8I unknown Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Ms4a20 A G 19: 11,079,224 (GRCm39) I148T probably benign Het
Muc4 A G 16: 32,589,108 (GRCm39) Y755C Het
Ncoa3 T A 2: 165,907,688 (GRCm39) L1099* probably null Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or1ak2 A T 2: 36,827,630 (GRCm39) L166F probably damaging Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Pex5 A G 6: 124,380,860 (GRCm39) S255P probably damaging Het
Pex5 T C 6: 124,390,977 (GRCm39) T58A probably benign Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppl T G 16: 4,920,166 (GRCm39) S410R probably benign Het
Pramel51 T C 12: 88,142,769 (GRCm39) E478G probably damaging Het
Prox2 T A 12: 85,134,815 (GRCm39) I489F probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc41a2 A G 10: 83,091,905 (GRCm39) S453P possibly damaging Het
Sox11 A T 12: 27,391,439 (GRCm39) N323K probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Thbd C A 2: 148,248,894 (GRCm39) V325L probably damaging Het
Tmco5 T C 2: 116,722,743 (GRCm39) F288S probably damaging Het
Traj16 T C 14: 54,440,645 (GRCm39) Y19H unknown Het
Trip11 A G 12: 101,853,233 (GRCm39) V454A probably benign Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttn T C 2: 76,555,370 (GRCm39) E30545G probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Vwa2 T A 19: 56,897,672 (GRCm39) I659N probably damaging Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q probably 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
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
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'- GACATTCAGCACTTCCTAATAGGG -3'
(R):5'- CACAGACCCATGGCTATTTGC -3'

Sequencing Primer
(F):5'- AGAAAGATGACCGTGTGTGTCTG -3'
(R):5'- GCCTGTCCATCTGGTGTAGC -3'
Posted On 2019-11-26