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|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein receptor adaptor protein 1|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R4233 (G1)|
|Chromosomal Location||134741554-134768024 bp(-) (GRCm38)|
|Type of Mutation||splice site (3 bp from exon)|
|DNA Base Change (assembly)||T to A at 134757338 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000036749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037828]|
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH). [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ldlrap1||
(F):5'- ATCAGCTGGTTAGGGAACAGC -3'
(R):5'- CAAGGTGCCAGTTGAGTGTC -3'
(F):5'- GGGTTTCTCAGTGGCACAACATAAC -3'
(R):5'- GCCAGTTGAGTGTCCTCCTG -3'