|Institutional Source||Beutler Lab|
|Gene Name||caveolae associated 1|
|Synonyms||Ptrf, 2310075E07Rik, cavin-1, Cavin|
|Is this an essential gene?||Not available|
|Stock #||R7226 (G1)|
|Chromosomal Location||100956733-100970887 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 100970458 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 3 (D3E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058321 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060792]|
|Predicted Effect||probably benign
AA Change: D3E
PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
AA Change: D3E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance, pulmonary arterial hypertension, and urinary bladder abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cavin1||
(F):5'- TATCCAGAAGGCTCAGCACC -3'
(R):5'- CGAAGACCTAATTCCTTTCCGC -3'
(F):5'- CAGCACACCGTTCACCTGG -3'
(R):5'- CGGGCAACTCGCAGATTC -3'