|Institutional Source||Beutler Lab|
|Gene Name||perilipin 3|
|Synonyms||Tip47, M6prbp1, 1300012C15Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.126)|
|Stock #||R0053 (G1)|
|Chromosomal Location||56278962-56290511 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 56279892 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 385 (D385G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019726 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019726] [ENSMUST00000058136]|
|Predicted Effect||probably damaging
AA Change: D385G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D385G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6486|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a null mutation display enhanced cold tolerance and increased beige adipocyte formation and thermogenic activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plin3||
(F):5'- CCAGATAGATGTTGGCCCTGAACC -3'
(R):5'- GGAGCCAAATTCCTGTCCTCCAAG -3'
(F):5'- ATGTTGGCCCTGAACCTTCTC -3'
(R):5'- TGGCCCTCAATACCCTGAC -3'