|Institutional Source||Beutler Lab|
|Gene Name||cadherin 6|
|Is this an essential gene?||Possibly essential (E-score: 0.526)|
|Stock #||R6830 (G1)|
|Chromosomal Location||13028701-13173675 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 13044774 bp|
|Amino Acid Change||Valine to Leucine at position 421 (V421L)|
|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 benign
AA Change: V421L
PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: V421L
|Meta Mutation Damage Score||0.0740|
|Coding Region Coverage||
|Validation Efficiency||98% (53/54)|
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'- TGGGAAAGCATATCTACCATGTACG -3'
(R):5'- TGCCTAGTAAGTGACTATTCAAGC -3'
(F):5'- AAAGCATATCTACCATGTACGTATTC -3'
(R):5'- AGTAAGTGACTATTCAAGCTGATTG -3'