|Institutional Source||Beutler Lab|
|Gene Name||phosphodiesterase 6A, cGMP-specific, rod, alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8104 (G1)|
|Chromosomal Location||61220482-61289924 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 61231494 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 207 (D207E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025468 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025468]|
|Predicted Effect||probably damaging
AA Change: D207E
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: D207E
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have retinal degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pde6a||
(F):5'- ATACCCCTGTCAGCAGAGTC -3'
(R):5'- GGCTAGCAGGTAAACCCTACAC -3'
(F):5'- AGAGTCTCTGAGATGTTCCCTG -3'
(R):5'- TGAAGCTCATTATGCAGGCC -3'