Incidental Mutation 'IGL03088:Cdh17'
ID418194
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 #IGL03088
Quality Score
Status
Chromosome4
Chromosomal Location11758147-11817895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 11810473 bp
ZygosityHeterozygous
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]
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: 58,293,384 L299R unknown Het
5330417C22Rik A G 3: 108,536,358 W31R probably damaging Het
8030411F24Rik A T 2: 148,783,407 H87L possibly damaging Het
Abca9 T G 11: 110,144,261 R693S probably benign Het
Adamts20 A T 15: 94,329,914 probably null Het
Afg1l T A 10: 42,426,497 D169V probably damaging Het
Agbl1 T A 7: 76,720,142 M663K probably benign Het
Angpt2 T A 8: 18,741,023 I86F probably benign Het
Ankrd2 G A 19: 42,041,985 E160K probably null Het
As3mt G T 19: 46,707,794 V14F probably damaging Het
Atp6v0a2 T C 5: 124,714,107 probably benign Het
Atp6v0d1 T A 8: 105,530,959 I113F probably damaging Het
Bank1 A G 3: 136,093,362 I406T probably damaging Het
BC053393 C A 11: 46,584,417 F146L probably benign Het
Bicdl1 A G 5: 115,663,822 V59A possibly damaging Het
Brsk1 A G 7: 4,710,454 probably benign Het
Cercam A G 2: 29,881,687 probably benign Het
Clpb T A 7: 101,785,449 L484* probably null Het
Creb3l1 T A 2: 91,995,394 M127L probably benign Het
Ctla2b A C 13: 60,896,060 D122E probably damaging Het
Cyb5rl C A 4: 107,081,028 Y12* probably null Het
Dennd5a T C 7: 109,908,381 Y800C probably damaging Het
Dmrt3 T G 19: 25,623,047 S419A probably benign Het
Fbxo38 A G 18: 62,522,472 V381A possibly damaging Het
Flg2 A T 3: 93,203,191 H842L unknown Het
Fn1 A T 1: 71,614,038 probably null Het
Fos A C 12: 85,475,856 T181P possibly damaging Het
Fzd10 A G 5: 128,602,605 Y463C possibly damaging Het
Gprc5b T C 7: 118,983,633 M338V probably benign Het
Gsta4 T C 9: 78,206,063 probably benign Het
Gstm2 T A 3: 107,986,046 T34S probably benign Het
Haspin C T 11: 73,136,625 R546Q probably damaging Het
Itgad G A 7: 128,203,032 R958H probably benign Het
Kansl1l A T 1: 66,735,725 H647Q probably damaging Het
Kif5c A C 2: 49,744,443 R762S probably benign Het
Klf4 C A 4: 55,530,758 A68S possibly damaging Het
Klf4 A G 4: 55,530,811 L50P probably damaging Het
Kmt2c T C 5: 25,299,804 E3502G probably damaging Het
Krt8 A G 15: 102,000,587 I202T possibly damaging Het
Lmcd1 A T 6: 112,310,688 T112S probably damaging Het
Lpxn T C 19: 12,833,211 C340R probably damaging Het
Man2a2 C T 7: 80,359,334 V844M possibly damaging Het
Map10 G A 8: 125,671,070 E401K probably benign Het
Mark4 A T 7: 19,451,584 L75Q probably damaging Het
Mlf2 T G 6: 124,933,982 M81R probably damaging Het
Mup3 A G 4: 62,086,842 I67T probably damaging Het
Mycbpap T C 11: 94,513,943 probably null Het
Myt1l T C 12: 29,920,477 V1185A probably benign Het
Ncoa7 C T 10: 30,698,125 probably null Het
Nos1 C A 5: 117,867,258 N14K probably damaging Het
Nova2 G T 7: 18,950,569 V116F unknown Het
Obox3 G A 7: 15,627,002 probably benign Het
Olfr110 A G 17: 37,498,648 probably benign Het
Olfr239 A T 17: 33,199,560 T171S probably benign Het
Olfr325 T A 11: 58,581,827 probably benign Het
Olfr914 A T 9: 38,607,301 S279C probably damaging Het
P2rx5 T A 11: 73,165,620 probably benign Het
Parvb T A 15: 84,308,843 probably benign Het
Popdc2 A T 16: 38,373,822 T202S probably damaging Het
Ppm1j T A 3: 104,785,409 Y411* probably null Het
Rapgefl1 C A 11: 98,849,232 L484M probably damaging Het
Sept14 A G 5: 129,697,733 probably benign Het
Slf1 A G 13: 77,084,435 C517R probably damaging Het
Smyd3 A G 1: 179,094,333 probably null Het
Snx9 A G 17: 5,924,610 T458A probably benign Het
Srgap1 T C 10: 121,825,693 D514G possibly damaging Het
Tbc1d14 A G 5: 36,524,964 S311P probably damaging Het
Tmem150c T G 5: 100,086,217 K91N probably damaging Het
Traf3 T A 12: 111,261,843 M471K probably damaging Het
Tubd1 G T 11: 86,552,999 G178C probably damaging Het
Vav2 T C 2: 27,267,250 K847E possibly damaging Het
Vmn2r100 A T 17: 19,522,039 H225L probably benign Het
Wrn A T 8: 33,268,823 probably benign Het
Xpo7 T G 14: 70,681,262 S710R probably benign Het
Zfp780b C T 7: 27,962,992 V713I possibly damaging Het
Zkscan17 A T 11: 59,487,766 I197N 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
IGL02448:Cdh17 APN 4 11784680 missense probably benign
IGL02869:Cdh17 APN 4 11814908 missense probably benign 0.00
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 On2016-08-02