|Institutional Source||Beutler Lab|
|Gene Name||caveolin 2|
|Is this an essential gene?||Probably non essential (E-score: 0.172)|
|Stock #||R6747 (G1)|
|Chromosomal Location||17281185-17289115 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 17286951 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 69 (N69Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111122 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000058] [ENSMUST00000115459] [ENSMUST00000115462]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: N69Y
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. This gene is located adjacent to caveolin-1 and the proteins coexpressed by the two genes localize together in caveolae, where they form hetero-oligomers. The encoded protein may be involved in diverse cellular functions including proliferation, differentiation, endocytosis and trafficking. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a null allele show lung parenchyma hypercellularity, alveolar constriction and septal thickening, impaired exercise endurance, and skeletal muscle defects. Mice homozygous for a different null allele show reduced tumor vascularization and growth of subcutaneously implanted tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cav2||
(F):5'- AAACAGTGTGCCTCTCGCTC -3'
(R):5'- CAGAACAGTAGTGAGTTTGTTGC -3'
(F):5'- GTGAACTGTTAAAAGCGCATTTGAG -3'
(R):5'- GTGAGTTTGTTGCATCAATAAAGTTG -3'