|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein-related protein 1B (deleted in tumors)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8244 (G1)|
|Chromosomal Location||40595246-42653624 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 41506782 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 424 (D424G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054275 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052550] [ENSMUST00000167270] [ENSMUST00000203080]|
|AlphaFold||no structure available at present|
AA Change: D424G
AA Change: D310G
PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D310G
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
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|
|Other mutations in this stock||
|Other mutations in Lrp1b||
(F):5'- TGAAGGCTTTTAAAGAGCCCC -3'
(R):5'- TGGTTCTTGCTATCCCTGAATAG -3'
(F):5'- AGGCTTTTAAAGAGCCCCTGTGG -3'
(R):5'- TTCCTCAGTTAAAAGAACAGA -3'