Incidental Mutation 'IGL02448:Cdh17'
ID293617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh17
Ensembl Gene ENSMUSG00000028217
Gene Namecadherin 17
SynonymsBILL-cadherin, LI-cadherin, HPT-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02448
Quality Score
Status
Chromosome4
Chromosomal Location11758147-11817895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11784680 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 279 (S279P)
Ref Sequence ENSEMBL: ENSMUSP00000103938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029871] [ENSMUST00000108303]
Predicted Effect probably benign
Transcript: ENSMUST00000029871
AA Change: S279P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: S279P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CA 44 123 5.27e-10 SMART
CA 147 241 6.9e-14 SMART
CA 258 337 3.05e-15 SMART
CA 361 446 3.29e-11 SMART
CA 471 564 5.27e-10 SMART
CA 587 664 5.59e-23 SMART
Blast:CA 687 771 5e-39 BLAST
transmembrane domain 784 806 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108303
AA Change: S279P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: S279P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CA 44 123 5.27e-10 SMART
CA 147 241 6.9e-14 SMART
CA 258 337 3.05e-15 SMART
CA 361 446 3.29e-11 SMART
CA 471 564 5.27e-10 SMART
CA 587 664 5.59e-23 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,875,570 I286F probably damaging Het
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Blzf1 T A 1: 164,295,781 I326F possibly damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Cpped1 C T 16: 11,805,389 E289K probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kcnj2 G T 11: 111,072,282 V167L probably benign Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Pex11a A T 7: 79,737,460 probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Slc8b1 T C 5: 120,525,791 S359P probably damaging Het
Srf T C 17: 46,555,423 T136A possibly damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging Het
Other mutations in Cdh17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Cdh17 APN 4 11797780 splice site probably benign
IGL00823:Cdh17 APN 4 11783412 missense possibly damaging 0.78
IGL00824:Cdh17 APN 4 11784675 missense probably benign 0.00
IGL01572:Cdh17 APN 4 11784621 splice site probably benign
IGL01602:Cdh17 APN 4 11795670 missense probably damaging 1.00
IGL01605:Cdh17 APN 4 11795670 missense probably damaging 1.00
IGL01759:Cdh17 APN 4 11771262 splice site probably benign
IGL02065:Cdh17 APN 4 11771373 splice site probably benign
IGL02869:Cdh17 APN 4 11814908 missense probably benign 0.00
IGL03088:Cdh17 APN 4 11810473 missense probably damaging 1.00
Disruptive UTSW 4 11784654 missense probably damaging 1.00
R0054:Cdh17 UTSW 4 11785186 missense possibly damaging 0.59
R0081:Cdh17 UTSW 4 11785280 splice site probably benign
R0101:Cdh17 UTSW 4 11771341 missense probably benign 0.00
R0432:Cdh17 UTSW 4 11771273 nonsense probably null
R0718:Cdh17 UTSW 4 11810451 missense possibly damaging 0.68
R0946:Cdh17 UTSW 4 11795581 missense probably benign 0.01
R1076:Cdh17 UTSW 4 11795581 missense probably benign 0.01
R1217:Cdh17 UTSW 4 11799676 missense probably benign 0.04
R2060:Cdh17 UTSW 4 11803982 missense probably benign 0.03
R3808:Cdh17 UTSW 4 11795671 missense probably damaging 0.99
R3850:Cdh17 UTSW 4 11785201 missense probably damaging 1.00
R4111:Cdh17 UTSW 4 11814628 missense probably damaging 0.99
R4112:Cdh17 UTSW 4 11814628 missense probably damaging 0.99
R4583:Cdh17 UTSW 4 11810466 missense probably benign 0.00
R4683:Cdh17 UTSW 4 11817036 missense possibly damaging 0.78
R4797:Cdh17 UTSW 4 11810390 missense probably benign 0.00
R5050:Cdh17 UTSW 4 11784654 missense probably damaging 1.00
R5071:Cdh17 UTSW 4 11810325 missense probably damaging 0.98
R5569:Cdh17 UTSW 4 11816990 missense probably damaging 0.96
R5790:Cdh17 UTSW 4 11814945 unclassified probably null
R6077:Cdh17 UTSW 4 11803969 missense probably benign 0.22
R6581:Cdh17 UTSW 4 11799615 missense probably damaging 1.00
R7274:Cdh17 UTSW 4 11783174 nonsense probably null
R7647:Cdh17 UTSW 4 11814698 missense probably damaging 1.00
R7649:Cdh17 UTSW 4 11814698 missense probably damaging 1.00
X0067:Cdh17 UTSW 4 11785224 missense probably damaging 0.99
Posted On2015-04-16