|Institutional Source||Beutler Lab|
|Gene Name||phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Synonyms||rd10, Pdeb, rd, rd1, r|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5528 (G1)|
|Chromosomal Location||108388391-108432397 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 108423558 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 459 (D459G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031456 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031456]|
|Predicted Effect||probably benign
AA Change: D459G
PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: D459G
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pde6b||
(F):5'- CTGTAGCAGTCTGGGAAACTGG -3'
(R):5'- CTGCTTAGGATGAGGCACAG -3'
(F):5'- GGAAACTGGCCTCTGAGACAC -3'
(R):5'- GGCACAGGGACAGTGTCTG -3'