|Institutional Source||Beutler Lab|
|Gene Name||cadherin-related family member 1|
|Is this an essential gene?||Probably non essential (E-score: 0.130)|
|Stock #||R2248 (G1)|
|Chromosomal Location||37077857-37098347 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 37081377 bp|
|Amino Acid Change||Valine to Leucine at position 581 (V581L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022337 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022337]|
|Predicted Effect||probably benign
AA Change: V581L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V581L
|Meta Mutation Damage Score||0.0881|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit progressive degeneration of retinal photoreceptor cells and a slight reduction in light responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdhr1||
(F):5'- AAGTTCAACATTCAAGCCCTCTG -3'
(R):5'- CATCCACTGGGCTTATCTACAC -3'
(F):5'- ATTCAAGCCCTCTGAACCTTAG -3'
(R):5'- ATCTACACTCAGCCCTGGG -3'