|Institutional Source||Beutler Lab|
|Gene Name||cadherin 3|
|Synonyms||Pcad, P-cadherin, Cadp|
|Is this an essential gene?||Probably non essential (E-score: 0.113)|
|Stock #||R4778 (G1)|
|Chromosomal Location||106510891-106557297 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 106543826 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 445 (I445N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079613 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080797]|
|Predicted Effect||probably damaging
AA Change: I445N
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: I445N
|Meta Mutation Damage Score||0.152|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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'- ATGCTGCCTCAGATTCGTC -3'
(R):5'- CTTTGAGTATGGCAGCCAGG -3'
(F):5'- AGATTCGTCTTCTCTCCTAGGG -3'
(R):5'- CCAGGAAGGGTTTGGTGC -3'