Incidental Mutation 'IGL02560:Cldn19'
ID298203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn19
Ensembl Gene ENSMUSG00000066058
Gene Nameclaudin 19
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02560
Quality Score
Status
Chromosome4
Chromosomal Location119255414-119262438 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 119255724 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 51 (W51*)
Ref Sequence ENSEMBL: ENSMUSP00000092418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084309] [ENSMUST00000094823]
Predicted Effect probably null
Transcript: ENSMUST00000084309
AA Change: W51*
SMART Domains Protein: ENSMUSP00000081334
Gene: ENSMUSG00000066058
AA Change: W51*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 5.8e-45 PFAM
Pfam:Claudin_2 15 184 1.1e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000094823
AA Change: W51*
SMART Domains Protein: ENSMUSP00000092418
Gene: ENSMUSG00000066058
AA Change: W51*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 6.1e-43 PFAM
Pfam:Claudin_2 15 184 2.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150252
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. siRNA knockdown of this gene in mice develops the FHHNC (familial hypomagnesemia with hypercalciuria and nephrocalcinosis) symptoms of chronic renal wasting of magnesium and calcium together with defective renal salt handling. The protein encoded by this gene interacts with another family member, Claudin 16, and their interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. This protein is a constituent of tight junctions in the Schwann cells of peripheral myelinated nerves and the gene deficiency affects the nerve conduction of peripheral myelinated fibers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a peripheral neuropathy associated with significant behavioral abnormalities, a complete lack of tight junctions from myelinated Schwann cells, and abnormal nerve conduction parameters of peripheral myelinated fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,866 noncoding transcript Het
Ano4 C T 10: 88,978,741 W660* probably null Het
Atp9b T C 18: 80,762,198 D715G probably benign Het
Catsper1 T C 19: 5,336,188 S150P possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ddx31 T C 2: 28,875,826 I512T probably damaging Het
Dsc2 G T 18: 20,045,539 D269E probably damaging Het
Dsg1b T C 18: 20,409,178 V914A possibly damaging Het
Etl4 A G 2: 20,743,718 E420G probably damaging Het
Foxa2 A G 2: 148,044,031 L113P probably benign Het
Gm6034 T G 17: 36,056,464 probably benign Het
Gtf3c4 A T 2: 28,834,267 Y343* probably null Het
Hhip A T 8: 79,987,009 Y563N probably damaging Het
Ighg2c A T 12: 113,287,884 C208S unknown Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Myb A T 10: 21,152,448 L172Q probably damaging Het
Nipal3 A T 4: 135,479,704 Y60N probably damaging Het
Npas2 A T 1: 39,333,961 probably benign Het
Olfr1008 T A 2: 85,689,519 V30D possibly damaging Het
Olfr1089 A T 2: 86,733,234 I126N probably damaging Het
Olfr196 G T 16: 59,167,528 S205* probably null Het
Pdxdc1 T C 16: 13,839,732 D532G probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Senp5 A G 16: 31,989,392 V348A probably benign Het
Slc25a37 T C 14: 69,245,292 T187A probably benign Het
Svil A G 18: 5,049,379 I219V probably benign Het
Tcf4 A G 18: 69,643,022 probably benign Het
Tex15 T C 8: 33,581,751 V2442A probably benign Het
Tomm70a T C 16: 57,149,849 L530S probably benign Het
Wscd2 A T 5: 113,560,984 D200V probably benign Het
Zfp952 C T 17: 33,002,819 Q53* probably null Het
Other mutations in Cldn19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1459:Cldn19 UTSW 4 119255613 missense probably damaging 1.00
R1524:Cldn19 UTSW 4 119257051 critical splice donor site probably null
R1828:Cldn19 UTSW 4 119255793 missense probably benign 0.00
R3008:Cldn19 UTSW 4 119255790 missense probably damaging 1.00
R3709:Cldn19 UTSW 4 119256897 missense possibly damaging 0.70
R3877:Cldn19 UTSW 4 119256897 missense possibly damaging 0.70
R4840:Cldn19 UTSW 4 119255754 missense probably damaging 1.00
R5238:Cldn19 UTSW 4 119255733 missense probably damaging 1.00
R5629:Cldn19 UTSW 4 119256919 missense probably damaging 0.98
R7407:Cldn19 UTSW 4 119255685 missense probably damaging 0.98
Posted On2015-04-16