|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 #||R0944 (G1)|
|Chromosomal Location||63992506-64035025 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 64032232 bp|
|Amino Acid Change||Serine to Glycine at position 1756 (S1756G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055449 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058229]|
|Predicted Effect||probably benign
AA Change: S1756G
PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: S1756G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.064|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
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'- ATGGGGAAATCTGCATCGGCAC -3'
(R):5'- TCTCTCTGGATACATCACGGGGAC -3'
(F):5'- TTTAGAGGCTCCAGCAAGAC -3'
(R):5'- ACGGGGACTTTCTTCTCTGC -3'