Incidental Mutation 'IGL03040:Cldn5'
ID 408845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn5
Ensembl Gene ENSMUSG00000041378
Gene Name claudin 5
Synonyms Tmvcf
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03040
Quality Score
Status
Chromosome 16
Chromosomal Location 18595597-18597012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18596380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 212 (Y212C)
Ref Sequence ENSEMBL: ENSMUSP00000041925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000028] [ENSMUST00000043577] [ENSMUST00000096990]
AlphaFold O54942
Predicted Effect probably benign
Transcript: ENSMUST00000000028
SMART Domains Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028

DomainStartEndE-ValueType
Pfam:CDC45 19 564 1.6e-152 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000043577
AA Change: Y212C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041925
Gene: ENSMUSG00000041378
AA Change: Y212C

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 7.6e-31 PFAM
Pfam:Claudin_2 15 182 1.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096990
SMART Domains Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028

DomainStartEndE-ValueType
Pfam:CDC45 18 74 7.9e-24 PFAM
Pfam:CDC45 73 520 4.5e-138 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 a critical component of endothelial tight junctions that control pericellular permeability. The knockout mice lacking this gene died within 10 h of birth and the blood-brain barrier in these mice against small molecules was selectively affected. This gene is expressed strongly in endothelium of normal lung and plays a regulation role during acrolein-induced acute lung injury. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous mutation of this gene results in size-selective loosening of the blood-brain barrier. Homozygous mutant neonates gradually cease movement and die within 10 hours after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,598,323 (GRCm39) G672* probably null Het
Adamts19 T A 18: 59,036,080 (GRCm39) S422T probably benign Het
Anapc7 T A 5: 122,571,450 (GRCm39) L175* probably null Het
Atp13a2 T C 4: 140,733,484 (GRCm39) L986P probably damaging Het
Atp6v1d C A 12: 78,904,122 (GRCm39) probably benign Het
Bnip5 A G 17: 29,134,176 (GRCm39) M11T probably benign Het
Dgki C A 6: 37,126,599 (GRCm39) probably benign Het
Evi5 A G 5: 107,969,672 (GRCm39) S80P probably damaging Het
Extl1 A T 4: 134,087,940 (GRCm39) probably benign Het
Fam237b C A 5: 5,625,566 (GRCm39) Y87* probably null Het
Fbxo38 T C 18: 62,660,323 (GRCm39) H296R probably damaging Het
Fras1 A G 5: 96,857,960 (GRCm39) I2085V probably benign Het
Gpd2 A T 2: 57,245,805 (GRCm39) E445V probably benign Het
Grm8 C T 6: 28,126,122 (GRCm39) M1I probably null Het
Hnf4g T A 3: 3,699,271 (GRCm39) probably benign Het
Hspg2 G A 4: 137,289,136 (GRCm39) probably null Het
Kmt2c T C 5: 25,515,350 (GRCm39) Q2831R probably benign Het
Nat10 C A 2: 103,587,610 (GRCm39) probably benign Het
Pbx1 C A 1: 168,255,515 (GRCm39) probably benign Het
Prkg2 C T 5: 99,120,966 (GRCm39) probably null Het
Scn10a T A 9: 119,452,051 (GRCm39) I1291F probably damaging Het
Sh3tc2 G A 18: 62,122,481 (GRCm39) G414D probably benign Het
Syn2 C T 6: 115,240,926 (GRCm39) T432I possibly damaging Het
Tnpo1 T C 13: 98,996,463 (GRCm39) E446G probably damaging Het
Topbp1 C T 9: 103,205,866 (GRCm39) L835F possibly damaging Het
Ubald1 G T 16: 4,693,626 (GRCm39) S96R possibly damaging Het
Utp6 C A 11: 79,826,939 (GRCm39) probably benign Het
Vmn1r19 C A 6: 57,382,347 (GRCm39) P300Q unknown Het
Vmn1r220 T C 13: 23,367,952 (GRCm39) D248G possibly damaging Het
Zglp1 T A 9: 20,974,622 (GRCm39) S189C probably damaging Het
Other mutations in Cldn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1584:Cldn5 UTSW 16 18,596,227 (GRCm39) missense probably damaging 1.00
R7196:Cldn5 UTSW 16 18,595,630 (GRCm39) unclassified probably benign
R7365:Cldn5 UTSW 16 18,595,845 (GRCm39) missense probably damaging 1.00
R8354:Cldn5 UTSW 16 18,596,043 (GRCm39) missense probably benign
Posted On 2016-08-02