Incidental Mutation 'IGL03100:Cldn17'
ID 418697
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: 0.108) question?
Stock # IGL03100
Quality Score
Status
Chromosome 16
Chromosomal Location 88302695-88303866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88303489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 80 (A80E)
Ref Sequence ENSEMBL: ENSMUSP00000066427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069549]
AlphaFold Q8BXA6
Predicted Effect probably damaging
Transcript: ENSMUST00000069549
AA Change: A80E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066427
Gene: ENSMUSG00000055811
AA Change: A80E

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,208,527 (GRCm39) R233S probably benign Het
Abcc9 A T 6: 142,640,270 (GRCm39) W73R probably damaging Het
Ago1 A G 4: 126,336,964 (GRCm39) V247A probably benign Het
Anpep T A 7: 79,486,109 (GRCm39) T538S probably benign Het
Asb14 A G 14: 26,625,329 (GRCm39) K228R probably benign Het
Atp6v0d2 C T 4: 19,910,586 (GRCm39) probably null Het
B3gat2 A T 1: 23,802,272 (GRCm39) D186V probably damaging Het
Bmpr1a A T 14: 34,163,164 (GRCm39) probably benign Het
Carmil3 A G 14: 55,732,175 (GRCm39) D224G probably damaging Het
Cd6 T C 19: 10,770,303 (GRCm39) M463V probably benign Het
Clasp1 T C 1: 118,395,626 (GRCm39) I188T possibly damaging Het
Clptm1l A G 13: 73,760,509 (GRCm39) probably benign Het
Col6a5 A T 9: 105,814,512 (GRCm39) V500E unknown Het
Ctdspl2 C T 2: 121,809,394 (GRCm39) T115I probably benign Het
Dbh G T 2: 27,055,534 (GRCm39) A3S probably benign Het
Fgd4 A G 16: 16,295,383 (GRCm39) probably benign Het
Gm4952 T A 19: 12,602,083 (GRCm39) probably null Het
Grik4 A G 9: 42,461,751 (GRCm39) M551T probably damaging Het
Hecw2 T C 1: 53,870,815 (GRCm39) I1389V probably damaging Het
Hkdc1 T C 10: 62,253,608 (GRCm39) T58A probably benign Het
Kcnh2 T C 5: 24,527,682 (GRCm39) K890R probably damaging Het
Kif24 T C 4: 41,394,446 (GRCm39) H809R possibly damaging Het
Knl1 A G 2: 118,931,251 (GRCm39) E1989G probably damaging Het
Muc15 A G 2: 110,561,939 (GRCm39) D125G probably damaging Het
Ogdhl A T 14: 32,064,029 (GRCm39) M632L probably benign Het
Prkdc T C 16: 15,531,499 (GRCm39) I1374T probably benign Het
Psmd1 T A 1: 86,046,243 (GRCm39) N670K possibly damaging Het
Ryr1 T C 7: 28,804,018 (GRCm39) H590R probably damaging Het
Scara3 A C 14: 66,168,722 (GRCm39) H298Q probably damaging Het
Sirt3 T C 7: 140,445,030 (GRCm39) D256G probably damaging Het
Slc13a2 T C 11: 78,295,299 (GRCm39) Q158R probably damaging Het
Slco5a1 T A 1: 12,949,504 (GRCm39) T629S possibly damaging Het
Speer4f2 A G 5: 17,581,528 (GRCm39) K157E probably damaging Het
Srsf1 T A 11: 87,939,954 (GRCm39) D155E probably damaging Het
Tln2 C T 9: 67,203,019 (GRCm39) R534H probably damaging Het
Ttn A G 2: 76,591,992 (GRCm39) probably benign Het
Ube2m A G 7: 12,771,562 (GRCm39) L32P probably benign Het
Wdr24 T A 17: 26,044,681 (GRCm39) F179I possibly damaging Het
Zfp961 T C 8: 72,721,754 (GRCm39) *69Q probably null 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
IGL01505:Cldn17 APN 16 88,303,591 (GRCm39) missense possibly damaging 0.67
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 2016-08-02