|Institutional Source||Beutler Lab|
|Gene Name||retinitis pigmentosa 1 (human)|
|Synonyms||Dcdc3, mG145, Orp1, oxygen-regulated protein 1, Rp1h|
|Is this an essential gene?||Probably non essential (E-score: 0.130)|
|Stock #||R2087 (G1)|
|Chromosomal Location||3999557-4409241 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 4348352 bp (GRCm38)|
|Amino Acid Change||Histidine to Tyrosine at position 846 (H846Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027032 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027032] [ENSMUST00000194992] [ENSMUST00000208660]|
AA Change: H846Y
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: H846Y
|Meta Mutation Damage Score||0.1213|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Two transcript variants encoding distinct isoforms are resulted from alternative promoters and alternative splicing. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rp1||
(F):5'- GTGGACCGGACTTTCTATGC -3'
(R):5'- TCCATAGTGACTCGAAACTCTG -3'
(F):5'- GGACCGGACTTTCTATGCTCAAAATC -3'
(R):5'- GTGACTCGAAACTCTGTGAAAGTC -3'