Incidental Mutation 'IGL03088:Cdh17'
ID 418194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh17
Ensembl Gene ENSMUSG00000028217
Gene Name cadherin 17
Synonyms BILL-cadherin, HPT-1, LI-cadherin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # IGL03088
Quality Score
Status
Chromosome 4
Chromosomal Location 11758157-11817905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11810473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 721 (N721K)
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: N721K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029871
Gene: ENSMUSG00000028217
AA Change: N721K

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: N721K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103938
Gene: ENSMUSG00000028217
AA Change: N721K

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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,184,210 (GRCm39) L299R unknown Het
Abca9 T G 11: 110,035,087 (GRCm39) R693S probably benign Het
Adamts20 A T 15: 94,227,795 (GRCm39) probably null Het
Afg1l T A 10: 42,302,493 (GRCm39) D169V probably damaging Het
Agbl1 T A 7: 76,369,890 (GRCm39) M663K probably benign Het
Angpt2 T A 8: 18,791,039 (GRCm39) I86F probably benign Het
Ankrd2 G A 19: 42,030,424 (GRCm39) E160K probably null Het
As3mt G T 19: 46,696,233 (GRCm39) V14F probably damaging Het
Atp6v0a2 T C 5: 124,791,171 (GRCm39) probably benign Het
Atp6v0d1 T A 8: 106,257,591 (GRCm39) I113F probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Bicdl1 A G 5: 115,801,881 (GRCm39) V59A possibly damaging Het
Brsk1 A G 7: 4,713,453 (GRCm39) probably benign Het
Cercam A G 2: 29,771,699 (GRCm39) probably benign Het
Clpb T A 7: 101,434,656 (GRCm39) L484* probably null Het
Creb3l1 T A 2: 91,825,739 (GRCm39) M127L probably benign Het
Cstdc1 A T 2: 148,625,327 (GRCm39) H87L possibly damaging Het
Ctla2b A C 13: 61,043,874 (GRCm39) D122E probably damaging Het
Cyb5rl C A 4: 106,938,225 (GRCm39) Y12* probably null Het
Dennd5a T C 7: 109,507,588 (GRCm39) Y800C probably damaging Het
Dmrt3 T G 19: 25,600,411 (GRCm39) S419A probably benign Het
Elapor1 A G 3: 108,443,674 (GRCm39) W31R probably damaging Het
Fbxo38 A G 18: 62,655,543 (GRCm39) V381A possibly damaging Het
Flg2 A T 3: 93,110,498 (GRCm39) H842L unknown Het
Fn1 A T 1: 71,653,197 (GRCm39) probably null Het
Fos A C 12: 85,522,630 (GRCm39) T181P possibly damaging Het
Fzd10 A G 5: 128,679,669 (GRCm39) Y463C possibly damaging Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Gsta4 T C 9: 78,113,345 (GRCm39) probably benign Het
Gstm2 T A 3: 107,893,362 (GRCm39) T34S probably benign Het
Haspin C T 11: 73,027,451 (GRCm39) R546Q probably damaging Het
Itgad G A 7: 127,802,204 (GRCm39) R958H probably benign Het
Kansl1l A T 1: 66,774,884 (GRCm39) H647Q probably damaging Het
Kif5c A C 2: 49,634,455 (GRCm39) R762S probably benign Het
Klf4 C A 4: 55,530,758 (GRCm39) A68S possibly damaging Het
Klf4 A G 4: 55,530,811 (GRCm39) L50P probably damaging Het
Kmt2c T C 5: 25,504,802 (GRCm39) E3502G probably damaging Het
Krt8 A G 15: 101,909,022 (GRCm39) I202T possibly damaging Het
Lmcd1 A T 6: 112,287,649 (GRCm39) T112S probably damaging Het
Lpxn T C 19: 12,810,575 (GRCm39) C340R probably damaging Het
Man2a2 C T 7: 80,009,082 (GRCm39) V844M possibly damaging Het
Map10 G A 8: 126,397,809 (GRCm39) E401K probably benign Het
Mark4 A T 7: 19,185,509 (GRCm39) L75Q probably damaging Het
Mlf2 T G 6: 124,910,945 (GRCm39) M81R probably damaging Het
Mup3 A G 4: 62,005,079 (GRCm39) I67T probably damaging Het
Mycbpap T C 11: 94,404,769 (GRCm39) probably null Het
Myt1l T C 12: 29,970,476 (GRCm39) V1185A probably benign Het
Ncoa7 C T 10: 30,574,121 (GRCm39) probably null Het
Nos1 C A 5: 118,005,323 (GRCm39) N14K probably damaging Het
Nova2 G T 7: 18,684,494 (GRCm39) V116F unknown Het
Obox3 G A 7: 15,360,927 (GRCm39) probably benign Het
Or10h1 A T 17: 33,418,534 (GRCm39) T171S probably benign Het
Or2t46 T A 11: 58,472,653 (GRCm39) probably benign Het
Or5v1 A G 17: 37,809,539 (GRCm39) probably benign Het
Or8b50 A T 9: 38,518,597 (GRCm39) S279C probably damaging Het
P2rx5 T A 11: 73,056,446 (GRCm39) probably benign Het
Parvb T A 15: 84,193,044 (GRCm39) probably benign Het
Popdc2 A T 16: 38,194,184 (GRCm39) T202S probably damaging Het
Ppm1j T A 3: 104,692,725 (GRCm39) Y411* probably null Het
Rapgefl1 C A 11: 98,740,058 (GRCm39) L484M probably damaging Het
Septin14 A G 5: 129,774,797 (GRCm39) probably benign Het
Slf1 A G 13: 77,232,554 (GRCm39) C517R probably damaging Het
Smyd3 A G 1: 178,921,898 (GRCm39) probably null Het
Snx9 A G 17: 5,974,885 (GRCm39) T458A probably benign Het
Srgap1 T C 10: 121,661,598 (GRCm39) D514G possibly damaging Het
Tbc1d14 A G 5: 36,682,308 (GRCm39) S311P probably damaging Het
Timd6 C A 11: 46,475,244 (GRCm39) F146L probably benign Het
Tmem150c T G 5: 100,234,076 (GRCm39) K91N probably damaging Het
Traf3 T A 12: 111,228,277 (GRCm39) M471K probably damaging Het
Tubd1 G T 11: 86,443,825 (GRCm39) G178C probably damaging Het
Vav2 T C 2: 27,157,262 (GRCm39) K847E possibly damaging Het
Vmn2r100 A T 17: 19,742,301 (GRCm39) H225L probably benign Het
Wrn A T 8: 33,758,851 (GRCm39) probably benign Het
Xpo7 T G 14: 70,918,702 (GRCm39) S710R probably benign Het
Zfp780b C T 7: 27,662,417 (GRCm39) V713I possibly damaging Het
Zkscan17 A T 11: 59,378,592 (GRCm39) I197N 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
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
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
Posted On 2016-08-02