|Institutional Source||Beutler Lab|
|Gene Name||fibulin 5|
|Is this an essential gene?||Probably non essential (E-score: 0.145)|
|Stock #||R5914 (G1)|
|Chromosomal Location||101746565-101819055 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 101760743 bp|
|Amino Acid Change||Aspartic acid to Alanine at position 329 (D329A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152680 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]|
|Predicted Effect||probably benign
AA Change: D316A
PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D316A
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: D329A
PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|Meta Mutation Damage Score||0.1239|
|Coding Region Coverage||
|Validation Efficiency||95% (87/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbln5||
(F):5'- ACGTATGCTTTCCATGCAGG -3'
(R):5'- AAGATGCAAGTGGCTCTCAC -3'
(F):5'- GGTCTGCCTTTAGGACTTCAGAAAC -3'
(R):5'- GTGGCTCTCACTCTTATCCTC -3'