|Institutional Source||Beutler Lab|
|Gene Name||rod outer segment membrane protein 1|
|Synonyms||Rgsc1156, Tspan23, Rom-1, M101156|
|Is this an essential gene?||Probably non essential (E-score: 0.099)|
|Stock #||R5802 (G1)|
|Chromosomal Location||8927382-8929356 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 8928824 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 117 (L117P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093961 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000096242] [ENSMUST00000096243] [ENSMUST00000224272]|
AA Change: L117P
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: L117P
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit large retinal discs, disorganized outer segments, gradual loss of rod photoreceptors by apoptosis, and diminished photo responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rom1||
(F):5'- CCAATCCTTGTAGCCATGGC -3'
(R):5'- TCACCCTCCTTTGTAGCGGG -3'
(F):5'- CGCCCGCAGCAATGGTAC -3'
(R):5'- TGGCACCTTCCTGGCAC -3'