|Institutional Source||Beutler Lab|
|Gene Name||retinal pigment epithelium 65|
|Synonyms||A930029L06Rik, Mord1, rd12|
|Is this an essential gene?||Probably non essential (E-score: 0.243)|
|Stock #||R5907 (G1)|
|Chromosomal Location||159599175-159625321 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 159615682 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000143654 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029824] [ENSMUST00000196999]|
|Meta Mutation Damage Score||0.9489|
|Coding Region Coverage||
|Validation Efficiency||93% (92/99)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit disorganized outer segment discs, reduced rod function, lack of rhodopsin and lipofuscin flurophores, and over-accumulation of all-trans-retinyl esters in the retinal pigment epithelium. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rpe65||
(F):5'- GGTTGTGACCTAAGGAACAATCAC -3'
(R):5'- GATGGGAATCACTGGGTCTG -3'
(F):5'- AGTTCAAGGTCAGCCTATGC -3'
(R):5'- ACATATCATCTTGGCTCTGTGGAAG -3'