|Institutional Source||Beutler Lab|
|Gene Name||cyclic nucleotide gated channel beta 3|
|Synonyms||CCNC2, CNG6, Cngbeta2|
|Is this an essential gene?||Probably non essential (E-score: 0.080)|
|Stock #||R4493 (G1)|
|Chromosomal Location||19280850-19510623 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 19367778 bp|
|Amino Acid Change||Proline to Glutamine at position 229 (P229Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100064 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102999]|
|Predicted Effect||probably damaging
AA Change: P229Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: P229Q
|Meta Mutation Damage Score||0.7156|
|Coding Region Coverage||
|Validation Efficiency||94% (45/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cone degeneration and decreased photopic response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cngb3||
(F):5'- GGAACTGGCAGTTAGACACAC -3'
(R):5'- ACACTGACAATGTTCTATCCACAG -3'
(F):5'- AACTGGCAGTTAGACACACATGTC -3'
(R):5'- TGACAATGTTCTATCCACAGAAAGAC -3'