|Institutional Source||Beutler Lab|
|Gene Name||caveolae associated 2|
|Synonyms||Sdpr, cavin 2|
|Is this an essential gene?||Probably non essential (E-score: 0.178)|
|Stock #||R5091 (G1)|
|Chromosomal Location||51289126-51302960 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 51301239 bp|
|Amino Acid Change||Asparagine to Lysine at position 358 (N358K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055694 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051572]|
|Predicted Effect||probably benign
AA Change: N358K
PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: N358K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0667|
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal caveolae formation in lung and adipose endothelia and adipocytes with gaps in the lung capillaries. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cavin2||
(F):5'- AAGCATCTTCTGGGAAAAGCTCC -3'
(R):5'- TGATCCACATGCAGCACAGC -3'
(F):5'- GAAAAGCTCCCCCTTCAAGGTTTC -3'
(R):5'- CAGCTGGCTGGACCTGTTTC -3'