|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein receptor-related protein 5|
|Is this an essential gene?||Probably essential (E-score: 0.904)|
|Stock #||R2016 (G1)|
|Chromosomal Location||3584828-3686564 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 3610056 bp (GRCm38)|
|Amino Acid Change||Lysine to Glutamic Acid at position 1003 (K1003E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025856 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025856] [ENSMUST00000177294] [ENSMUST00000177330]|
AA Change: K1003E
PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: K1003E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutants show variable bone loss, decreased osteoblast proliferation, impaired glucose tolerance, increased plasma cholesterol on high-fat diet and persistent embryonic eye vascularization, depending on allelic combination and strain background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrp5||
(F):5'- AAGTCCAAGGCCAGGATCAC -3'
(R):5'- TGCTAATGCTCTCTGCTCAG -3'
(F):5'- GGCCAGGATCACACCTATAATTAC -3'
(R):5'- CTCAGCTTGCTGATGCTCGG -3'