Incidental Mutation 'IGL01505:Cldn17'
ID 89009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn17
Ensembl Gene ENSMUSG00000055811
Gene Name claudin 17
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01505
Quality Score
Status
Chromosome 16
Chromosomal Location 88302695-88303866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88303591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 46 (I46T)
Ref Sequence ENSEMBL: ENSMUSP00000066427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069549]
AlphaFold Q8BXA6
Predicted Effect possibly damaging
Transcript: ENSMUST00000069549
AA Change: I46T

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066427
Gene: ENSMUSG00000055811
AA Change: I46T

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 9.8e-29 PFAM
Pfam:Claudin_2 16 184 2.6e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and is clustered with the Cldn8 gene on chromosome 16. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 69,080,418 (GRCm39) probably null Het
A2m A G 6: 121,653,906 (GRCm39) N1413S possibly damaging Het
Aadacl4fm4 C T 4: 144,401,188 (GRCm39) V99M probably damaging Het
Arhgap45 A T 10: 79,862,376 (GRCm39) N488Y probably benign Het
Arid4a G A 12: 71,083,889 (GRCm39) D94N probably damaging Het
Atp7a A G X: 105,153,436 (GRCm39) K1114E probably damaging Het
Atp8a2 C T 14: 60,265,512 (GRCm39) V275M probably benign Het
Ceacam12 T C 7: 17,801,357 (GRCm39) V112A probably damaging Het
Cep295 T A 9: 15,229,345 (GRCm39) D2256V probably benign Het
Chid1 A T 7: 141,093,807 (GRCm39) probably null Het
Clcn5 A T X: 7,036,678 (GRCm39) L268* probably null Het
Cnot1 A T 8: 96,455,346 (GRCm39) I2025N probably damaging Het
Cntn5 C T 9: 9,706,092 (GRCm39) V574M probably damaging Het
Col14a1 T A 15: 55,318,619 (GRCm39) C1373S unknown Het
Col9a1 A G 1: 24,224,205 (GRCm39) N129S unknown Het
Cp C T 3: 20,031,356 (GRCm39) P598S possibly damaging Het
Cpb1 G A 3: 20,320,410 (GRCm39) R150C probably damaging Het
Cyp2j7 T A 4: 96,115,917 (GRCm39) probably null Het
Dnajb7 T C 15: 81,291,692 (GRCm39) E215G possibly damaging Het
Dock1 G A 7: 134,760,239 (GRCm39) R1634Q possibly damaging Het
Dop1b A G 16: 93,554,004 (GRCm39) T313A possibly damaging Het
Fgd2 T A 17: 29,585,971 (GRCm39) V185E probably damaging Het
Flnb T C 14: 7,902,003 (GRCm38) probably null Het
Fzd7 A G 1: 59,523,062 (GRCm39) E315G probably benign Het
Gjd3 T A 11: 102,691,552 (GRCm39) K150N probably benign Het
Gpihbp1 C T 15: 75,469,977 (GRCm39) probably benign Het
Gpr160 T C 3: 30,950,002 (GRCm39) S25P possibly damaging Het
Grsf1 G A 5: 88,820,608 (GRCm39) R58* probably null Het
Ifit1 T A 19: 34,625,854 (GRCm39) M330K probably benign Het
Igkv1-122 T C 6: 67,994,178 (GRCm39) V22A probably benign Het
Ikbke A T 1: 131,183,048 (GRCm39) D692E probably benign Het
Il15ra T C 2: 11,737,956 (GRCm39) probably benign Het
Il18rap A G 1: 40,576,244 (GRCm39) I252V probably damaging Het
Klra10 C T 6: 130,249,680 (GRCm39) G202R probably damaging Het
Kpna7 A G 5: 144,929,661 (GRCm39) V388A probably damaging Het
L2hgdh A G 12: 69,768,175 (GRCm39) S108P probably damaging Het
Msto1 G A 3: 88,818,050 (GRCm39) T388M probably benign Het
Naip1 T C 13: 100,562,441 (GRCm39) E908G probably damaging Het
Neto1 C A 18: 86,491,814 (GRCm39) D238E possibly damaging Het
Nlrp5 T A 7: 23,117,159 (GRCm39) D294E probably benign Het
Nr3c2 T C 8: 77,635,816 (GRCm39) S306P probably damaging Het
Or8b41 T A 9: 38,055,167 (GRCm39) C240* probably null Het
Pard3 T A 8: 128,050,544 (GRCm39) L202H probably damaging Het
Pdzd2 T C 15: 12,458,293 (GRCm39) N190S probably damaging Het
Pi4ka T C 16: 17,127,222 (GRCm39) D1077G probably benign Het
Pmfbp1 A C 8: 110,240,543 (GRCm39) L208F probably damaging Het
Pms1 C T 1: 53,246,130 (GRCm39) D470N probably benign Het
Prdm10 T C 9: 31,238,578 (GRCm39) F108L probably benign Het
Rab11fip1 A T 8: 27,644,804 (GRCm39) M327K possibly damaging Het
Slc37a4 T A 9: 44,311,261 (GRCm39) L184Q probably damaging Het
Smdt1 T C 15: 82,232,094 (GRCm39) probably benign Het
Smg6 A G 11: 75,047,117 (GRCm39) Y1270C probably damaging Het
Speer4f2 T A 5: 17,581,565 (GRCm39) V169E possibly damaging Het
Stpg2 C T 3: 139,023,214 (GRCm39) A410V probably benign Het
Tnrc6b T A 15: 80,764,164 (GRCm39) D555E probably benign Het
Tsg101 A G 7: 46,558,808 (GRCm39) Y46H probably damaging Het
Vmn2r111 G A 17: 22,767,553 (GRCm39) S648L probably benign Het
Vmn2r73 T A 7: 85,507,267 (GRCm39) R682* probably null Het
Xkr5 A T 8: 18,983,514 (GRCm39) I676N probably damaging Het
Other mutations in Cldn17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Cldn17 APN 16 88,303,045 (GRCm39) utr 3 prime probably benign
IGL01481:Cldn17 APN 16 88,303,471 (GRCm39) missense probably benign 0.03
IGL03100:Cldn17 APN 16 88,303,489 (GRCm39) missense probably damaging 1.00
BB002:Cldn17 UTSW 16 88,303,533 (GRCm39) missense probably damaging 1.00
BB012:Cldn17 UTSW 16 88,303,533 (GRCm39) missense probably damaging 1.00
R1721:Cldn17 UTSW 16 88,303,444 (GRCm39) missense probably damaging 1.00
R5944:Cldn17 UTSW 16 88,303,597 (GRCm39) missense probably damaging 1.00
R6200:Cldn17 UTSW 16 88,303,459 (GRCm39) missense probably damaging 1.00
R6750:Cldn17 UTSW 16 88,303,195 (GRCm39) missense possibly damaging 0.88
R7698:Cldn17 UTSW 16 88,303,244 (GRCm39) nonsense probably null
R7925:Cldn17 UTSW 16 88,303,533 (GRCm39) missense probably damaging 1.00
X0025:Cldn17 UTSW 16 88,303,280 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03