|Institutional Source||Beutler Lab|
|Gene Name||cadherin 3|
|Synonyms||Pcad, P-cadherin, Cadp|
|Is this an essential gene?||Probably non essential (E-score: 0.143)|
|Stock #||R1653 (G1)|
|Chromosomal Location||106510891-106557297 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 106539068 bp|
|Amino Acid Change||Serine to Proline at position 248 (S248P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079613 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080797]|
|PDB Structure||Crystal structure of mouse P-cadherin extracellular domains EC1-EC2 [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: S248P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S248P
|Coding Region Coverage||
FUNCTION: This gene encodes a calcium-dependent cell-cell adhesion protein containing five cadherin domains. The encoded protein plays a role in epithelial outgrowth, such as that which occurs during the development of hair follicles and limb buds. Loss of function of the related gene in humans results in ectodermal dysplasia, ectrodactyly, and macular dystrophy and congential hypotrichosis with juvenile macular dystrophy. This gene is located in the vicinity of similar cadherin genes on chromosome 8. The proprotein is further cleaved into a functional chain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutation of this gene results in precocious development of mammary glands in virgin 10-week old females. Aged virgin females (24 weeks) exhibit alveolar hyperplasia, ductal dysplasia, and extensive lymphocyte infiltration of the mammary glands. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh3||
(F):5'- AAGTTCCAGGAAACAGGCTGCCAC -3'
(R):5'- GCGACATGCAAACTAAATGAGCCG -3'
(F):5'- TGCCGGGCAGAAATTCAC -3'
(R):5'- AATCCAGGTGATCCTGGTCTC -3'