Incidental Mutation 'R0101:Cdh17'
ID 33189
Institutional Source Beutler Lab
Gene Symbol Cdh17
Ensembl Gene ENSMUSG00000028217
Gene Name cadherin 17
Synonyms BILL-cadherin, HPT-1, LI-cadherin
MMRRC Submission 038387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R0101 (G1)
Quality Score 217
Status Validated
Chromosome 4
Chromosomal Location 11758157-11817905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11771341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 41 (Q41R)
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: Q41R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: Q41R

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: Q41R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: Q41R

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 0.0984 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,901,739 (GRCm39) D829N probably benign Het
B3galnt1 A G 3: 69,483,139 (GRCm39) Y41H probably benign Het
Carmil3 A C 14: 55,735,212 (GRCm39) probably benign Het
Cep43 A T 17: 8,388,374 (GRCm39) S76C possibly damaging Het
Chrm2 G T 6: 36,501,430 (GRCm39) C429F probably damaging Het
Cplane1 T A 15: 8,250,444 (GRCm39) C1844S probably benign Het
Cyld T A 8: 89,444,928 (GRCm39) probably null Het
Cyp2d11 C A 15: 82,274,395 (GRCm39) probably benign Het
Dnah1 A G 14: 31,005,856 (GRCm39) Y2308H probably damaging Het
Dnajc27 T C 12: 4,139,142 (GRCm39) V60A probably benign Het
Dnmbp A G 19: 43,862,599 (GRCm39) V850A possibly damaging Het
Emcn A T 3: 137,047,001 (GRCm39) M1L possibly damaging Het
Epc1 A T 18: 6,462,998 (GRCm39) probably benign Het
Fbxo21 T C 5: 118,133,521 (GRCm39) L310P probably damaging Het
Filip1 A G 9: 79,726,810 (GRCm39) I603T probably benign Het
Fndc3b A G 3: 27,512,957 (GRCm39) V723A probably damaging Het
Gemin5 G A 11: 58,036,322 (GRCm39) P674S probably damaging Het
Gsk3a T C 7: 24,928,328 (GRCm39) D471G probably benign Het
Igbp1b G A 6: 138,634,658 (GRCm39) P262L probably damaging Het
Itga11 T C 9: 62,651,768 (GRCm39) L300S probably damaging Het
Itsn2 T C 12: 4,683,058 (GRCm39) probably benign Het
Lhcgr A G 17: 89,072,598 (GRCm39) S150P probably damaging Het
Man1a T C 10: 53,951,120 (GRCm39) M1V probably null Het
Mical2 C T 7: 111,936,074 (GRCm39) R892C possibly damaging Het
Mtus2 T C 5: 148,019,845 (GRCm39) S747P probably damaging Het
Mug1 A G 6: 121,861,206 (GRCm39) K1276E possibly damaging Het
Or1n1b A G 2: 36,780,138 (GRCm39) S241P probably damaging Het
Pfkfb4 C G 9: 108,839,711 (GRCm39) P260R probably benign Het
Prkca A T 11: 107,948,626 (GRCm39) L121Q probably damaging Het
Prpf40b T C 15: 99,204,681 (GRCm39) probably benign Het
Ripor2 T C 13: 24,864,615 (GRCm39) M215T probably damaging Het
Rpn1 A G 6: 88,070,769 (GRCm39) D213G possibly damaging Het
Rreb1 C A 13: 38,115,518 (GRCm39) P959Q probably benign Het
Sema5b T C 16: 35,483,472 (GRCm39) probably benign Het
Slc38a10 A G 11: 120,041,903 (GRCm39) M1T probably null Het
Slco1c1 G T 6: 141,477,236 (GRCm39) L11F probably damaging Het
Spef2 T C 15: 9,713,194 (GRCm39) T393A probably damaging Het
Srp54b A G 12: 55,302,405 (GRCm39) probably benign Het
St14 G T 9: 31,008,403 (GRCm39) N512K probably benign Het
Syce1l T A 8: 114,382,061 (GRCm39) S237T probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tamm41 A T 6: 115,009,207 (GRCm39) Y129N probably damaging Het
Tctn2 T C 5: 124,753,357 (GRCm39) noncoding transcript Het
Tpr T C 1: 150,285,053 (GRCm39) probably benign Het
Vsig10 T A 5: 117,473,134 (GRCm39) probably null Het
Zfp335 T C 2: 164,741,910 (GRCm39) K635R probably damaging Het
Zfp541 A G 7: 15,811,968 (GRCm39) Y207C 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
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
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'- TGGAACCCTCCACTCCGTACATTG -3'
(R):5'- TCAGCAGCTTTTGCACTCAGGAC -3'

Sequencing Primer
(F):5'- CGTACATTGTTTCTGCAAGTGAC -3'
(R):5'- TGGAGTCCATAATGCCGAC -3'
Posted On 2013-05-09