|Institutional Source||Beutler Lab|
|Gene Name||cadherin 18|
|Is this an essential gene?||Probably non essential (E-score: 0.097)|
|Stock #||R5982 (G1)|
|Chromosomal Location||22549022-23474418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 23474216 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Alanine at position 724 (D724A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130851 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164787] [ENSMUST00000165614] [ENSMUST00000167623] [ENSMUST00000226693]|
AA Change: D724A
PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D724A
|Meta Mutation Damage Score||0.7760|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh18||
(F):5'- GAAGCCTTCGACATCACAGC -3'
(R):5'- TCAGGAAGCAAATTCTACATAGCTCC -3'
(F):5'- ACAGCTTTGCGGAATCCTG -3'
(R):5'- AGGAACCCCCTAAGTTGTTCTTTCAG -3'