|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein receptor-related protein 1|
|Synonyms||A2mr, b2b1554Clo, CD91|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6605 (G1)|
|Chromosomal Location||127538161-127621148 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 127560136 bp|
|Amino Acid Change||Histidine to Tyrosine at position 2422 (H2422Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044004 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049149]|
|Predicted Effect||probably damaging
AA Change: H2422Y
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: H2422Y
|Meta Mutation Damage Score||0.1707|
|Coding Region Coverage||
|Validation Efficiency||92% (35/38)|
|MGI Phenotype||Strain: 2178192
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality during late organogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrp1||
(F):5'- CATGTGTGCAGGCAGAGATC -3'
(R):5'- CTGCGTGGTTCTGACAACAC -3'
(F):5'- TGGTAGCCCCACTCACAG -3'
(R):5'- CGTGGTTCTGACAACACTTAGAAAAG -3'