|Institutional Source||Beutler Lab|
|Gene Name||opsin 5|
|Synonyms||Gpr136, Neuropsin, TMEM13, PGR12|
|Is this an essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R4723 (G1)|
|Chromosomal Location||42556783-42611313 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 42607200 bp|
|Amino Acid Change||Methionine to Lysine at position 57 (M57K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063542 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068355]|
|Predicted Effect||probably damaging
AA Change: M57K
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: M57K
|Meta Mutation Damage Score||0.8308|
|Coding Region Coverage||
|Validation Efficiency||94% (77/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit light/dark entrainment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Opn5||
(F):5'- TGGCTACAAACACTGCAAAGATG -3'
(R):5'- GCCTGTCACTCACAATCCATG -3'
(F):5'- CAAAGATGCTTTGGGAAGAAGC -3'
(R):5'- CACTCACAATCCATGCTTTTATTTC -3'