|Institutional Source||Beutler Lab|
|Gene Name||cadherin-related family member 1|
|Is this an essential gene?||Probably non essential (E-score: 0.095)|
|Stock #||R6890 (G1)|
|Chromosomal Location||37077857-37098347 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 37085645 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 346 (D346G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022337 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022337]|
|Predicted Effect||probably damaging
AA Change: D346G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D346G
|Meta Mutation Damage Score||0.9453|
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
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'- AGACCCAGTCACTTTCAAGG -3'
(R):5'- ACACTCAGTCTTGACTTTGTAGC -3'
(F):5'- CCAGTCACTTTCAAGGGCATG -3'
(R):5'- GGATTCCAAGGTCATTGACATAGCTG -3'