|Institutional Source||Beutler Lab|
|Gene Name||cadherin 6|
|Is this an essential gene?||Possibly essential (E-score: 0.526)|
|Stock #||R0124 (G1)|
|Chromosomal Location||13028701-13173675 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13034324 bp|
|Amino Acid Change||Leucine to Proline at position 750 (L750P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037113 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036439]|
|PDB Structure||Crystal structure of cadherin-6 EC12 W4A [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: L750P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L750P
|Meta Mutation Damage Score||0.9455|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein exhibit delay in mesenchyme-to-epithelial conversion and a loss of nephrons. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh6||
(F):5'- GACTTTTGGACCAGGTACAACGGG -3'
(R):5'- AGCAAATCGCGCAGGGACATTG -3'
(F):5'- CCCCTCACGGAATAGTGGATAAATAG -3'
(R):5'- GGACATTGTGCCTGAAGCTC -3'