|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein receptor|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9709 (G1)|
|Chromosomal Location||21723483-21749919 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 21745839 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 751 (T751A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034713 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034713] [ENSMUST00000213114]|
AA Change: T751A
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: T751A
AA Change: T699A
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ldlr||
(F):5'- CATGGAATTTGGTGGCCTGC -3'
(R):5'- ACATTTGCACAGAAACTGTACC -3'
(F):5'- CGTTCCACCCAGAGCAGAG -3'
(R):5'- TGCCAAGCTTGCTAACCTGAG -3'