Incidental Mutation 'R1076:Cdh17'
ID 85639
Institutional Source Beutler Lab
Gene Symbol Cdh17
Ensembl Gene ENSMUSG00000028217
Gene Name cadherin 17
Synonyms BILL-cadherin, HPT-1, LI-cadherin
MMRRC Submission 039162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R1076 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 11758157-11817905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11795581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 387 (V387A)
Ref Sequence ENSEMBL: ENSMUSP00000103938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029871] [ENSMUST00000108303]
AlphaFold Q9R100
Predicted Effect probably benign
Transcript: ENSMUST00000029871
AA Change: V387A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: V387A

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: V387A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: V387A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 100% (39/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,759 (GRCm39) K63R probably damaging Het
Ankrd50 T C 3: 38,509,071 (GRCm39) N176D probably damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Cldn4 A G 5: 134,975,191 (GRCm39) S137P probably damaging Het
Cnn1 A T 9: 22,019,165 (GRCm39) Q157L probably damaging Het
Csn1s1 A T 5: 87,824,242 (GRCm39) probably null Het
Dennd3 C T 15: 73,412,582 (GRCm39) H415Y probably damaging Het
Dnpep A G 1: 75,292,582 (GRCm39) probably benign Het
Dram1 C A 10: 88,161,246 (GRCm39) V208L probably damaging Het
Elovl2 A G 13: 41,343,583 (GRCm39) V115A possibly damaging Het
Fryl C T 5: 73,282,016 (GRCm39) probably benign Het
Gsap A G 5: 21,492,692 (GRCm39) T707A possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ktn1 T A 14: 47,932,095 (GRCm39) M674K probably damaging Het
Larp4 A G 15: 99,895,311 (GRCm39) T295A probably benign Het
Lrp1 T C 10: 127,399,666 (GRCm39) probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Macf1 T C 4: 123,279,391 (GRCm39) D3870G probably damaging Het
Mctp2 T G 7: 71,835,615 (GRCm39) probably null Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Neb A G 2: 52,094,904 (GRCm39) Y4883H probably damaging Het
Nsun6 A T 2: 15,014,283 (GRCm39) C286S probably benign Het
Pabpc4 T A 4: 123,186,701 (GRCm39) D307E possibly damaging Het
Pik3cg G A 12: 32,245,713 (GRCm39) probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Serpina3k A G 12: 104,307,253 (GRCm39) T162A probably benign Het
Sis T C 3: 72,841,431 (GRCm39) T795A probably damaging Het
Skint8 T A 4: 111,784,416 (GRCm39) V14E probably damaging Het
Slc2a1 T G 4: 118,991,645 (GRCm39) M351R probably damaging Het
Slc41a3 G A 6: 90,621,142 (GRCm39) C394Y probably benign Het
Srp54b T C 12: 55,302,313 (GRCm39) probably benign Het
Ulk2 G A 11: 61,710,135 (GRCm39) H358Y probably damaging Het
Utp20 A T 10: 88,608,405 (GRCm39) I1544N possibly damaging Het
Utp20 A G 10: 88,608,321 (GRCm39) M1572T probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L 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
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
R3850:Cdh17 UTSW 4 11,785,201 (GRCm39) missense probably damaging 1.00
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'- CAGTTCCCGTGTTTCCTAAGAAGCC -3'
(R):5'- ATGCGATGTCTCCGAATCTGCACC -3'

Sequencing Primer
(F):5'- AGCCACTTGATGAACTGATGTG -3'
(R):5'- CTTGAGAAAACATCTGGCTTCC -3'
Posted On 2013-11-18