|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein-related protein 1B (deleted in tumors)|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4721 (G1)|
|Chromosomal Location||40595246-42653624 bp(-) (GRCm38)|
|Type of Mutation||splice site (3 bp from exon)|
|DNA Base Change (assembly)||T to A at 40715369 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000054275 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052550]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (90/92)|
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 (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors. [provided by MGI curators]
|Allele List at MGI||
All alleles(9) : Targeted, knock-out(3) Targeted, other(2) Gene trapped(4)
|Other mutations in this stock||
|Other mutations in Lrp1b||
(F):5'- GACACATTCAGATGTTAGTGTGTTGTC -3'
(R):5'- TGGATGATGCGGAACCCTTC -3'
(F):5'- GTGTGTTGTCTACAGAATCATGAAC -3'
(R):5'- ATGATGCGGAACCCTTCTTTTTG -3'