|Institutional Source||Beutler Lab|
|Gene Name||cadherin-related family member 1|
|Is this an essential gene?||Probably non essential (E-score: 0.110)|
|Stock #||R0219 (G1)|
|Chromosomal Location||37077857-37098347 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 37079601 bp|
|Amino Acid Change||Leucine to Arginine at position 795 (L795R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022337 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022337]|
|Predicted Effect||possibly damaging
AA Change: L795R
PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: L795R
|Meta Mutation Damage Score||0.036|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
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'- CTGCATCTCACAGTCTGAGGCATC -3'
(R):5'- ACGGCTACCTTCTGGCGTAACAAG -3'
(F):5'- TGAGGCATCTCTTGCCCAAAG -3'
(R):5'- GAAGTCTAACAAGGTCCTGCCTG -3'