|Institutional Source||Beutler Lab|
|Gene Name||lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)|
|Is this an essential gene?||Probably non essential (E-score: 0.115)|
|Stock #||R7041 (G1)|
|Chromosomal Location||82892579-82903973 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 82903448 bp|
|Amino Acid Change||Glutamine to Lysine at position 89 (Q89K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029632 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029632]|
|Predicted Effect||probably benign
AA Change: Q89K
PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: Q89K
|Coding Region Coverage||
|Validation Efficiency||96% (53/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit retinol homeostasis abnormalities and are more susceptible to vitamin A deficiency or display impaired vision associated with abnormal retinol metabolism. Males have testicular hypoplasia/atrophy and reduced mature sperm counts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrat||
(F):5'- CTGTATGGAGTCAGTCCCAAC -3'
(R):5'- TCCTCCTGGAGAAACTGCTC -3'
(F):5'- CAGTCCCAACTGCTGCTCAG -3'
(R):5'- GAGAAACTGCTCCTTATTTCCAAC -3'