|Institutional Source||Beutler Lab|
|Gene Name||peripherin 2|
|Synonyms||Nmf193, Rd2, rds, Tspan22|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4972 (G1)|
|Chromosomal Location||46910459-46924933 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 46910807 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 37 (L37F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024773 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024773]|
|Predicted Effect||possibly damaging
AA Change: L37F
PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: L37F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||93% (82/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prph2||
(F):5'- TTAACGGGGATCCCAAGCTAGG -3'
(R):5'- TTCCACTTGGCGTACTTGGC -3'
(F):5'- AACTCCCTGCAGCTTGGG -3'
(R):5'- TACTTGGCCGGGTCCAG -3'