|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein receptor-related protein associated protein 1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6925 (G1)|
|Chromosomal Location||35091501-35105766 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 35102536 bp (GRCm38)|
|Amino Acid Change||Histidine to Asparagine at position 73 (H73N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030986 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030986]|
AA Change: H73N
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: H73N
|Meta Mutation Damage Score||0.0760|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However, subtle abnormalities are seen in behavior, brain function and thyroid function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrpap1||
(F):5'- GCACTTGCTGTCACAATGTCC -3'
(R):5'- CTCCTGACATAGGCGTCATCAG -3'
(F):5'- AGTCCCTCAACTTGGCCTGG -3'
(R):5'- GACATAGGCGTCATCAGTCTTTGAAG -3'