|Institutional Source||Beutler Lab|
|Gene Name||retinitis pigmentosa 1 homolog like 1|
|Is this an essential gene?||Probably non essential (E-score: 0.085)|
|Stock #||R1651 (G1)|
|Chromosomal Location||63992506-64035025 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 64030993 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 1343 (E1343K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055449 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058229]|
|Predicted Effect||probably damaging
AA Change: E1343K
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: E1343K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2664|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
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'- CTGGAAGGTGATGCACTGTCAGAAG -3'
(R):5'- AGCAGCTTGGACACCCAGATTG -3'
(F):5'- AGGCTACAGGAAAATAGTGTCC -3'
(R):5'- ACACCCAGATTGGGTCAGG -3'