|Institutional Source||Beutler Lab|
|Gene Name||retinitis pigmentosa 1 homolog like 1|
|Is this an essential gene?||Probably non essential (E-score: 0.164)|
|Stock #||R0085 (G1)|
|Chromosomal Location||63992506-64035025 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 64022295 bp|
|Amino Acid Change||Arginine to Tryptophan at position 129 (R129W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055449 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058229]|
|Predicted Effect||probably damaging
AA Change: R129W
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: R129W
|Meta Mutation Damage Score||0.0248|
|Coding Region Coverage||
|Validation Efficiency||95% (71/75)|
FUNCTION: This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rp1l1||
(F):5'- AACCTTCCTCAAGCGAGGTGATCC -3'
(R):5'- GTGACTGAGAACCACTGTCTGCTG -3'
(F):5'- CTTCAGCTCCCTAATGGATGAG -3'
(R):5'- TGTTTCTGGAGCTTCATGCC -3'