Incidental Mutation 'IGL02560:Cldn19'
ID 298203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn19
Ensembl Gene ENSMUSG00000066058
Gene Name claudin 19
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02560
Quality Score
Status
Chromosome 4
Chromosomal Location 119112638-119119635 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 119112921 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9ET38
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
Ano4 C T 10: 88,814,603 (GRCm39) W660* probably null Het
Atp9b T C 18: 80,805,413 (GRCm39) D715G probably benign Het
Catsper1 T C 19: 5,386,216 (GRCm39) S150P possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Ddx31 T C 2: 28,765,838 (GRCm39) I512T probably damaging Het
Dsc2 G T 18: 20,178,596 (GRCm39) D269E probably damaging Het
Dsg1b T C 18: 20,542,235 (GRCm39) V914A possibly damaging Het
Etl4 A G 2: 20,748,529 (GRCm39) E420G probably damaging Het
Foxa2 A G 2: 147,885,951 (GRCm39) L113P probably benign Het
Gm6034 T G 17: 36,367,356 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,724,279 (GRCm39) Y343* probably null Het
Hhip A T 8: 80,713,638 (GRCm39) Y563N probably damaging Het
Ighg2c A T 12: 113,251,504 (GRCm39) C208S unknown Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Myb A T 10: 21,028,347 (GRCm39) L172Q probably damaging Het
Nipal3 A T 4: 135,207,015 (GRCm39) Y60N probably damaging Het
Npas2 A T 1: 39,373,042 (GRCm39) probably benign Het
Or5h26 G T 16: 58,987,891 (GRCm39) S205* probably null Het
Or8k16 T A 2: 85,519,863 (GRCm39) V30D possibly damaging Het
Or8k39 A T 2: 86,563,578 (GRCm39) I126N probably damaging Het
Pdxdc1 T C 16: 13,657,596 (GRCm39) D532G probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Senp5 A G 16: 31,808,210 (GRCm39) V348A probably benign Het
Slc25a37 T C 14: 69,482,741 (GRCm39) T187A probably benign Het
Svil A G 18: 5,049,379 (GRCm39) I219V probably benign Het
Tcf4 A G 18: 69,776,093 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,779 (GRCm39) V2442A probably benign Het
Tomm70a T C 16: 56,970,212 (GRCm39) L530S probably benign Het
Ulbp3 A G 10: 3,075,866 (GRCm39) noncoding transcript Het
Wscd2 A T 5: 113,699,045 (GRCm39) D200V probably benign Het
Zfp952 C T 17: 33,221,793 (GRCm39) Q53* probably null Het
Other mutations in Cldn19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1459:Cldn19 UTSW 4 119,112,810 (GRCm39) missense probably damaging 1.00
R1524:Cldn19 UTSW 4 119,114,248 (GRCm39) critical splice donor site probably null
R1828:Cldn19 UTSW 4 119,112,990 (GRCm39) missense probably benign 0.00
R3008:Cldn19 UTSW 4 119,112,987 (GRCm39) missense probably damaging 1.00
R3709:Cldn19 UTSW 4 119,114,094 (GRCm39) missense possibly damaging 0.70
R3877:Cldn19 UTSW 4 119,114,094 (GRCm39) missense possibly damaging 0.70
R4840:Cldn19 UTSW 4 119,112,951 (GRCm39) missense probably damaging 1.00
R5238:Cldn19 UTSW 4 119,112,930 (GRCm39) missense probably damaging 1.00
R5629:Cldn19 UTSW 4 119,114,116 (GRCm39) missense probably damaging 0.98
R7407:Cldn19 UTSW 4 119,112,882 (GRCm39) missense probably damaging 0.98
R9591:Cldn19 UTSW 4 119,114,357 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16