|Institutional Source||Beutler Lab|
|Gene Name||cadherin 20|
|Is this an essential gene?||Possibly non essential (E-score: 0.253)|
|Stock #||R4955 (G1)|
|Chromosomal Location||104768529-104995481 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 104984803 bp|
|Amino Acid Change||Valine to Alanine at position 594 (V594A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052078 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062528]|
|Predicted Effect||probably damaging
AA Change: V594A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V594A
|Meta Mutation Damage Score||0.7304|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh20||
(F):5'- GCAGTGCACGCCTTATAAC -3'
(R):5'- ATGTCTCAAAGCCTGTGGAC -3'
(F):5'- GCAGTGCACGCCTTATAACTTTTC -3'
(R):5'- CCTAAGAGGACAAAGATGC -3'