Incidental Mutation 'IGL01668:Cldn16'
ID 103382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn16
Ensembl Gene ENSMUSG00000038148
Gene Name claudin 16
Synonyms PCLN1, claudin-16, paracellin-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01668
Quality Score
Status
Chromosome 16
Chromosomal Location 26281885-26301515 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 26301296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 201 (Y201*)
Ref Sequence ENSEMBL: ENSMUSP00000124528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115302] [ENSMUST00000161053]
AlphaFold Q925N4
Predicted Effect probably null
Transcript: ENSMUST00000115302
AA Change: Y201*
SMART Domains Protein: ENSMUSP00000110957
Gene: ENSMUSG00000038148
AA Change: Y201*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 3 183 2.1e-20 PFAM
Pfam:Claudin_2 14 185 7.9e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161053
AA Change: Y201*
SMART Domains Protein: ENSMUSP00000124528
Gene: ENSMUSG00000038148
AA Change: Y201*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 3 183 2.2e-20 PFAM
Pfam:Claudin_2 14 185 1.2e-12 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. The protein encoded by this gene is critical for renal paracellular epithelial transport of Ca(2+) and Mg(2+) in the thick ascending loop of Henle. The gene deficiency leads to specific alterations in renal Ca(2+) and Mg(2+) balance and also to disturbances in Na(+) handling. The interaction of this gene and the Cldn 19 gene is required for their assembly into tight junctions and for renal Mg(2+) reabsorption. This gene and the Cldn1 gene are clustered on chromosome 16. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele display an age-dependent progressive phenotype that includes hypercalciuria and hypomagnesemia, significantly elevated serum parathyroid hormone and calcitriol (1,25(OH)2D3) levels, and a significantly lower urinary pH but no nephrocalcinosis or renal failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,554,993 (GRCm39) V444A possibly damaging Het
Chd9 A T 8: 91,753,404 (GRCm39) H1799L possibly damaging Het
Cic C T 7: 24,990,629 (GRCm39) P1108S possibly damaging Het
Clba1 T C 12: 112,773,264 (GRCm39) S86P probably damaging Het
Col6a6 C A 9: 105,586,470 (GRCm39) R1850S probably damaging Het
Cryge A G 1: 65,087,857 (GRCm39) Y151H probably damaging Het
Dhcr7 T A 7: 143,397,048 (GRCm39) V180D probably damaging Het
Dmwd C T 7: 18,815,080 (GRCm39) R577W probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm5901 C T 7: 105,026,771 (GRCm39) R180C probably benign Het
Hook2 A T 8: 85,720,207 (GRCm39) Y131F possibly damaging Het
Hsf1 T C 15: 76,381,162 (GRCm39) probably null Het
Ighv1-62-3 A G 12: 115,424,613 (GRCm39) probably benign Het
Ikbke T G 1: 131,184,675 (GRCm39) D666A probably benign Het
Il1r1 C T 1: 40,352,489 (GRCm39) T556I probably benign Het
Larp4 T C 15: 99,885,355 (GRCm39) S69P probably damaging Het
Lrrc27 G T 7: 138,807,827 (GRCm39) probably benign Het
Marchf2 A C 17: 33,922,070 (GRCm39) W97G probably damaging Het
Or4c10b C A 2: 89,711,443 (GRCm39) P91Q probably benign Het
Or5b21 A G 19: 12,839,231 (GRCm39) I31V probably benign Het
Or8k28 A G 2: 86,285,746 (GRCm39) Y290H probably damaging Het
Pah T A 10: 87,414,123 (GRCm39) I324N probably damaging Het
Pcdhb7 A G 18: 37,476,205 (GRCm39) E447G probably benign Het
Prex2 T C 1: 11,223,869 (GRCm39) V731A probably benign Het
Prpsap2 A G 11: 61,646,277 (GRCm39) V44A probably benign Het
Rp1 T C 1: 4,415,941 (GRCm39) N1724D probably damaging Het
Sap130 A G 18: 31,813,493 (GRCm39) N517D probably damaging Het
Slc13a3 A C 2: 165,272,212 (GRCm39) F277C probably damaging Het
Snx19 A G 9: 30,339,119 (GRCm39) T86A probably benign Het
Tbc1d32 A T 10: 55,999,673 (GRCm39) V833D probably benign Het
Washc2 A G 6: 116,239,299 (GRCm39) D1290G probably damaging Het
Wdr87-ps G A 7: 29,236,855 (GRCm39) noncoding transcript Het
Other mutations in Cldn16
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1469:Cldn16 UTSW 16 26,292,930 (GRCm39) splice site probably benign
R3620:Cldn16 UTSW 16 26,296,302 (GRCm39) missense possibly damaging 0.73
R4586:Cldn16 UTSW 16 26,296,308 (GRCm39) missense probably benign 0.00
R6135:Cldn16 UTSW 16 26,293,018 (GRCm39) missense possibly damaging 0.66
R6257:Cldn16 UTSW 16 26,300,080 (GRCm39) missense probably damaging 0.96
R6818:Cldn16 UTSW 16 26,296,257 (GRCm39) missense probably damaging 1.00
R7129:Cldn16 UTSW 16 26,301,388 (GRCm39) missense probably damaging 1.00
R8955:Cldn16 UTSW 16 26,301,270 (GRCm39) missense probably benign 0.00
Z1177:Cldn16 UTSW 16 26,300,000 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21