|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory subunit 17|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1846 (G1)|
|Chromosomal Location||56017497-56032689 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 56022427 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 15 (E15G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059708 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052827]|
|Predicted Effect||possibly damaging
AA Change: E15G
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: E15G
|Meta Mutation Damage Score||0.0659|
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
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||
|Other mutations in Ppp1r17||
(F):5'- TTCCTAATAGGGAGAAAGATGACCG -3'
(R):5'- TCCATCTGGTGTAGCCTGTC -3'
(F):5'- AGAAAGATGACCGTGTGTGTCTG -3'
(R):5'- TGTAGCCTGTCACCAGAAGG -3'