|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory subunit 17|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6924 (G1)|
|Chromosomal Location||56017497-56032689 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 56026022 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 32 (D32E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059708 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052827]|
|Predicted Effect||probably damaging
AA Change: D32E
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: D32E
|Meta Mutation Damage Score||0.0757|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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'- TCAGCCAACGAGGAACAGTTAG -3'
(R):5'- TGCCATTACAGCCACAGAGAG -3'
(F):5'- GTTAGGACCATCTAGAACTCCAGTC -3'
(R):5'- GAGAGCAACATGTCCCGC -3'