|Institutional Source||Beutler Lab|
|Gene Name||cadherin-related family member 1|
|Is this an essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R5039 (G1)|
|Chromosomal Location||37077857-37098347 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 37079643 bp|
|Amino Acid Change||Asparagine to Serine at position 781 (N781S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022337 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022337]|
|Predicted Effect||probably benign
AA Change: N781S
PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: N781S
|Meta Mutation Damage Score||0.1213|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
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'- TTGCTTGAGCTCAGACACC -3'
(R):5'- TGTGGCCATAACTGTCCTCATC -3'
(F):5'- GCTTGAGCTCAGACACCAAAGAAG -3'
(R):5'- ATAACTGTCCTCATCTCCACGG -3'