Incidental Mutation 'R3850:Cdh17'
ID 275860
Institutional Source Beutler Lab
Gene Symbol Cdh17
Ensembl Gene ENSMUSG00000028217
Gene Name cadherin 17
Synonyms BILL-cadherin, HPT-1, LI-cadherin
MMRRC Submission 040898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R3850 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 11758157-11817905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11785201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 331 (D331G)
Ref Sequence ENSEMBL: ENSMUSP00000103938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029871] [ENSMUST00000108303]
AlphaFold Q9R100
Predicted Effect probably damaging
Transcript: ENSMUST00000029871
AA Change: D331G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: D331G

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 damaging
Transcript: ENSMUST00000108303
AA Change: D331G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: D331G

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
Meta Mutation Damage Score 0.8101 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Abcc5 A T 16: 20,190,906 (GRCm39) S815T probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Als2cl A G 9: 110,718,377 (GRCm39) probably benign Het
Antxrl C A 14: 33,789,338 (GRCm39) H309Q probably benign Het
Ap1g2 T C 14: 55,342,363 (GRCm39) M165V probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Csmd1 C G 8: 16,129,936 (GRCm39) V1729L probably benign Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Cwf19l1 T C 19: 44,119,937 (GRCm39) Y68C probably benign Het
Dst C T 1: 34,228,355 (GRCm39) Q1658* probably null Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Golgb1 C A 16: 36,719,095 (GRCm39) Q334K probably benign Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hsf4 T C 8: 105,997,469 (GRCm39) F101L probably damaging Het
Hydin T C 8: 111,290,561 (GRCm39) I3340T probably damaging Het
Igfbpl1 C T 4: 45,826,426 (GRCm39) R123H probably benign Het
Mov10l1 A T 15: 88,889,898 (GRCm39) probably null Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Muc5b G A 7: 141,416,375 (GRCm39) C3107Y possibly damaging Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nfasc T C 1: 132,559,471 (GRCm39) T214A probably damaging Het
Or4a72 T C 2: 89,405,378 (GRCm39) R231G probably damaging Het
Or5aq1b T A 2: 86,902,310 (GRCm39) H56L possibly damaging Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pcdhga10 C T 18: 37,882,074 (GRCm39) P612S probably damaging Het
Picalm A G 7: 89,840,912 (GRCm39) N456S probably damaging Het
Pigo A G 4: 43,025,084 (GRCm39) F5S probably benign Het
Pikfyve T C 1: 65,270,004 (GRCm39) F563S probably damaging Het
Plod2 A G 9: 92,424,598 (GRCm39) E29G probably benign Het
Pm20d2 A G 4: 33,174,414 (GRCm39) V403A probably damaging Het
Proz A G 8: 13,123,533 (GRCm39) E268G probably benign Het
Rb1cc1 T A 1: 6,320,337 (GRCm39) V1252D probably benign Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rmdn3 A T 2: 118,986,903 (GRCm39) H41Q possibly damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Ror1 A G 4: 100,299,357 (GRCm39) Y910C possibly damaging Het
Scn2a C T 2: 65,512,375 (GRCm39) L171F probably benign Het
Sh3pxd2b A G 11: 32,361,505 (GRCm39) E239G probably damaging Het
Smim33 G A 18: 35,861,767 (GRCm39) V84I probably benign Het
Snx27 G T 3: 94,427,542 (GRCm39) T311K probably benign Het
Sspo T A 6: 48,469,424 (GRCm39) L4459Q probably damaging Het
Syne2 T C 12: 76,095,396 (GRCm39) L5241P probably damaging Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Thap12 G T 7: 98,365,870 (GRCm39) K679N probably damaging Het
Vmn2r65 T A 7: 84,595,859 (GRCm39) H275L probably benign Het
Wfs1 C A 5: 37,125,968 (GRCm39) V308L probably benign Het
Zfp229 C A 17: 21,964,843 (GRCm39) H358N probably damaging Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G probably damaging Het
Other mutations in Cdh17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Cdh17 APN 4 11,797,780 (GRCm39) splice site probably benign
IGL00823:Cdh17 APN 4 11,783,412 (GRCm39) missense possibly damaging 0.78
IGL00824:Cdh17 APN 4 11,784,675 (GRCm39) missense probably benign 0.00
IGL01572:Cdh17 APN 4 11,784,621 (GRCm39) splice site probably benign
IGL01602:Cdh17 APN 4 11,795,670 (GRCm39) missense probably damaging 1.00
IGL01605:Cdh17 APN 4 11,795,670 (GRCm39) missense probably damaging 1.00
IGL01759:Cdh17 APN 4 11,771,262 (GRCm39) splice site probably benign
IGL02065:Cdh17 APN 4 11,771,373 (GRCm39) splice site probably benign
IGL02448:Cdh17 APN 4 11,784,680 (GRCm39) missense probably benign
IGL02869:Cdh17 APN 4 11,814,908 (GRCm39) missense probably benign 0.00
IGL03088:Cdh17 APN 4 11,810,473 (GRCm39) missense probably damaging 1.00
Disruptive UTSW 4 11,784,654 (GRCm39) missense probably damaging 1.00
G1Funyon:Cdh17 UTSW 4 11,795,659 (GRCm39) missense probably damaging 0.99
R0054:Cdh17 UTSW 4 11,785,186 (GRCm39) missense possibly damaging 0.59
R0081:Cdh17 UTSW 4 11,785,280 (GRCm39) splice site probably benign
R0101:Cdh17 UTSW 4 11,771,341 (GRCm39) missense probably benign 0.00
R0432:Cdh17 UTSW 4 11,771,273 (GRCm39) nonsense probably null
R0718:Cdh17 UTSW 4 11,810,451 (GRCm39) missense possibly damaging 0.68
R0946:Cdh17 UTSW 4 11,795,581 (GRCm39) missense probably benign 0.01
R1076:Cdh17 UTSW 4 11,795,581 (GRCm39) missense probably benign 0.01
R1217:Cdh17 UTSW 4 11,799,676 (GRCm39) missense probably benign 0.04
R2060:Cdh17 UTSW 4 11,803,982 (GRCm39) missense probably benign 0.03
R3808:Cdh17 UTSW 4 11,795,671 (GRCm39) missense probably damaging 0.99
R4111:Cdh17 UTSW 4 11,814,628 (GRCm39) missense probably damaging 0.99
R4112:Cdh17 UTSW 4 11,814,628 (GRCm39) missense probably damaging 0.99
R4583:Cdh17 UTSW 4 11,810,466 (GRCm39) missense probably benign 0.00
R4683:Cdh17 UTSW 4 11,817,036 (GRCm39) missense possibly damaging 0.78
R4797:Cdh17 UTSW 4 11,810,390 (GRCm39) missense probably benign 0.00
R5050:Cdh17 UTSW 4 11,784,654 (GRCm39) missense probably damaging 1.00
R5071:Cdh17 UTSW 4 11,810,325 (GRCm39) missense probably damaging 0.98
R5569:Cdh17 UTSW 4 11,816,990 (GRCm39) missense probably damaging 0.96
R5790:Cdh17 UTSW 4 11,814,945 (GRCm39) splice site probably null
R6077:Cdh17 UTSW 4 11,803,969 (GRCm39) missense probably benign 0.22
R6581:Cdh17 UTSW 4 11,799,615 (GRCm39) missense probably damaging 1.00
R7274:Cdh17 UTSW 4 11,783,174 (GRCm39) nonsense probably null
R7647:Cdh17 UTSW 4 11,814,698 (GRCm39) missense probably damaging 1.00
R7649:Cdh17 UTSW 4 11,814,698 (GRCm39) missense probably damaging 1.00
R7934:Cdh17 UTSW 4 11,799,754 (GRCm39) critical splice donor site probably null
R8290:Cdh17 UTSW 4 11,817,037 (GRCm39) missense probably benign
R8301:Cdh17 UTSW 4 11,795,659 (GRCm39) missense probably damaging 0.99
R8690:Cdh17 UTSW 4 11,783,163 (GRCm39) missense probably benign 0.05
R8709:Cdh17 UTSW 4 11,795,685 (GRCm39) nonsense probably null
R8818:Cdh17 UTSW 4 11,771,323 (GRCm39) missense probably damaging 1.00
R8940:Cdh17 UTSW 4 11,783,226 (GRCm39) missense probably damaging 1.00
R9243:Cdh17 UTSW 4 11,771,333 (GRCm39) missense probably benign 0.26
R9325:Cdh17 UTSW 4 11,810,319 (GRCm39) missense probably damaging 0.99
R9457:Cdh17 UTSW 4 11,771,329 (GRCm39) missense probably damaging 0.98
X0067:Cdh17 UTSW 4 11,785,224 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTGGGATGATGAAATTCACTCC -3'
(R):5'- TGGACTGCAGAATAGGTCTACC -3'

Sequencing Primer
(F):5'- CTAAACATGTTGACACTAAGGTGAG -3'
(R):5'- ACCCAATGGTTCATTCTCC -3'
Posted On 2015-04-06