|Institutional Source||Beutler Lab|
|Gene Name||caveolae associated 3|
|Synonyms||cavin 3, Prkcdbp, 3110015B12Rik, 6330514M23Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.042)|
|Stock #||R3522 (G1)|
|Chromosomal Location||105480083-105482300 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 105481143 bp|
|Amino Acid Change||Glycine to Valine at position 154 (G154V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044979 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047040]|
|Predicted Effect||probably benign
AA Change: G154V
PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: G154V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.04|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, severe lipodystrophy, hepatic steatosis, increased fermentative glycolysis in lung tissue, and premature death as a result of cachexia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cavin3||
(F):5'- CTTCTGATGGGCCTTCAGAG -3'
(R):5'- CCCCAATTCCTAGTGCAGATG -3'
(F):5'- TTCAGAGCTCCGGACAGG -3'
(R):5'- CAAAGGGTGGAGTAGCTTCCC -3'