|Institutional Source||Beutler Lab|
|Gene Name||cadherin 17|
|Synonyms||BILL-cadherin, LI-cadherin, HPT-1|
|Is this an essential gene?||Probably non essential (E-score: 0.111)|
|Stock #||R4112 (G1)|
|Chromosomal Location||11758147-11817895 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 11814628 bp|
|Amino Acid Change||Serine to Proline at position 728 (S728P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029871 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029871] [ENSMUST00000108303]|
|Predicted Effect||probably damaging
AA Change: S728P
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: S728P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2539|
|Coding Region Coverage||
|Validation Efficiency||97% (56/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdh17||
(F):5'- GAAGTTAAAAGGATGTGTTAGCCC -3'
(R):5'- GAACAGGGCTCCATAGATTACG -3'
(F):5'- TTTTGGTAAGAGACATGGAA -3'
(R):5'- GGGCTCCATAGATTACGTTTTTAAG -3'