|Institutional Source||Beutler Lab|
|Gene Name||cDNA sequence BC027072|
|Is this an essential gene?||Probably non essential (E-score: 0.094)|
|Stock #||R2519 (G1)|
|Chromosomal Location||71743557-71752885 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 71751647 bp|
|Amino Acid Change||Serine to Asparagine at position 345 (S345N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051871 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057405]|
|Predicted Effect||probably damaging
AA Change: S345N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S345N
|Meta Mutation Damage Score||0.2593|
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in BC027072||
(F):5'- CTGTCTGAACCTGTCCAGTATGG -3'
(R):5'- AGTACACAGTCAGCAAGCTGC -3'
(F):5'- AGTATGGACCTTCCTGCCAG -3'
(R):5'- TCACCGGGAGCTTCTTGGAG -3'