|Institutional Source||Beutler Lab|
|Gene Name||retinitis pigmentosa 1 homolog like 1|
|Is this an essential gene?||Probably non essential (E-score: 0.075)|
|Stock #||R6848 (G1)|
|Chromosomal Location||63992506-64035025 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 64028218 bp|
|Amino Acid Change||Glutamine to Lysine at position 418 (Q418K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055449 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058229]|
|Predicted Effect||possibly damaging
AA Change: Q418K
PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: Q418K
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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'- AGATGAAAGTCCGCTTCCAAC -3'
(R):5'- GAGACTCGGCTGAGATTATCC -3'
(F):5'- GATGAAAGTCCGCTTCCAACTTCTG -3'
(R):5'- AGACTCGGCTGAGATTATCCTTGTC -3'