Incidental Mutation 'IGL02619:Cldn18'
ID 300767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn18
Ensembl Gene ENSMUSG00000032473
Gene Name claudin 18
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02619
Quality Score
Status
Chromosome 9
Chromosomal Location 99572849-99599320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99580988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 87 (I87F)
Ref Sequence ENSEMBL: ENSMUSP00000115782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035048] [ENSMUST00000112882] [ENSMUST00000131922] [ENSMUST00000136429]
AlphaFold P56857
Predicted Effect probably damaging
Transcript: ENSMUST00000035048
AA Change: I87F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: I87F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 1e-28 PFAM
Pfam:Claudin_2 15 197 3e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112882
AA Change: I87F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: I87F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 4.2e-30 PFAM
Pfam:Claudin_2 15 197 4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131922
AA Change: I87F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473
AA Change: I87F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 1.9e-30 PFAM
Pfam:Claudin_2 15 197 1.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136429
AA Change: I87F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473
AA Change: I87F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 4e-29 PFAM
Pfam:Claudin_2 6 197 1e-16 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 a downstream target gene regulated by the T/EBP/NKX2.1 homeodomain transcription factor. Four alternatively spliced transcript variants resulted from alternative promoters and alternative splicing have been identified, which encode two lung-specific isoforms and two stomach-specific isoforms respectively. This gene is also expressed in colons, inner ear and skin, and its expression is increased in both experimental colitis and ulcerative colitis. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone resorption and osteoclast differentiation. Homozygotes for another knock-out allele have impiared alveolarization and alveolar epithelial barrier function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,620,016 (GRCm39) G220E possibly damaging Het
Arhgef10l A G 4: 140,321,504 (GRCm39) I101T probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Camkk2 A T 5: 122,902,298 (GRCm39) C4S probably damaging Het
Ccdc174 T A 6: 91,876,538 (GRCm39) D458E possibly damaging Het
Cercam A G 2: 29,770,686 (GRCm39) N419S probably benign Het
Clca3a2 T C 3: 144,512,083 (GRCm39) N551S probably damaging Het
Ctso T A 3: 81,848,836 (GRCm39) probably benign Het
Ddhd2 C A 8: 26,236,981 (GRCm39) probably null Het
Dscaml1 T A 9: 45,359,094 (GRCm39) Y118N probably damaging Het
Ece1 C T 4: 137,666,044 (GRCm39) A296V probably benign Het
Fbxo40 T A 16: 36,790,766 (GRCm39) I115F possibly damaging Het
Fkbp9 T A 6: 56,827,609 (GRCm39) N143K probably damaging Het
Foxk2 G T 11: 121,190,402 (GRCm39) probably benign Het
Ggnbp1 A G 17: 27,248,529 (GRCm39) K33E probably benign Het
Hace1 A T 10: 45,547,530 (GRCm39) probably benign Het
Hk3 A T 13: 55,162,107 (GRCm39) C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 (GRCm39) A542V probably damaging Het
Lrch2 A C X: 146,263,537 (GRCm39) V363G probably damaging Het
Lrch2 C T X: 146,302,131 (GRCm39) C264Y probably damaging Het
Lrrc56 C A 7: 140,787,546 (GRCm39) probably benign Het
Lrtm2 C T 6: 119,294,199 (GRCm39) V311M probably damaging Het
N4bp1 G T 8: 87,587,529 (GRCm39) Q470K probably benign Het
Naa15 A C 3: 51,367,552 (GRCm39) D575A probably benign Het
Ncaph A T 2: 126,969,456 (GRCm39) V69D probably damaging Het
Nlrp5 G A 7: 23,123,489 (GRCm39) probably null Het
Nmbr A G 10: 14,636,331 (GRCm39) D100G probably damaging Het
Ofcc1 C T 13: 40,250,553 (GRCm39) V588M possibly damaging Het
Or4b13 G T 2: 90,082,849 (GRCm39) T161N probably damaging Het
Or5p4 C A 7: 107,680,949 (GRCm39) probably benign Het
Osmr C A 15: 6,871,475 (GRCm39) R314M probably damaging Het
Pcdhb16 C T 18: 37,611,270 (GRCm39) Q77* probably null Het
Pglyrp4 G A 3: 90,642,955 (GRCm39) probably null Het
Ptprh A G 7: 4,552,498 (GRCm39) F922S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rp1 T A 1: 4,418,673 (GRCm39) Q813L possibly damaging Het
Sgtb A G 13: 104,254,922 (GRCm39) N64S probably benign Het
Slc5a12 T C 2: 110,471,201 (GRCm39) V481A probably benign Het
Slitrk1 A G 14: 109,149,349 (GRCm39) V454A probably benign Het
Sntg2 C A 12: 30,317,025 (GRCm39) probably null Het
Synj1 C T 16: 90,770,933 (GRCm39) V499I probably damaging Het
Tmco1 T C 1: 167,153,597 (GRCm39) probably benign Het
Tmem38b T C 4: 53,848,871 (GRCm39) I92T probably damaging Het
Tmem9 T C 1: 135,955,145 (GRCm39) V93A probably benign Het
Ttn T A 2: 76,625,582 (GRCm39) R15080S possibly damaging Het
Ube2e3 T C 2: 78,749,065 (GRCm39) I138T probably damaging Het
Urgcp A G 11: 5,665,752 (GRCm39) I862T possibly damaging Het
Vmn1r68 A T 7: 10,261,603 (GRCm39) I165N probably benign Het
Washc4 G A 10: 83,394,717 (GRCm39) V316I possibly damaging Het
Zfp111 A T 7: 23,899,113 (GRCm39) L166Q possibly damaging Het
Zfyve1 A T 12: 83,597,718 (GRCm39) probably benign Het
Zscan18 A G 7: 12,508,793 (GRCm39) probably benign Het
Other mutations in Cldn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Cldn18 APN 9 99,580,874 (GRCm39) missense probably benign 0.29
IGL01317:Cldn18 APN 9 99,578,135 (GRCm39) missense probably benign
IGL01804:Cldn18 APN 9 99,580,901 (GRCm39) nonsense probably null
IGL02112:Cldn18 APN 9 99,580,128 (GRCm39) missense probably benign 0.11
IGL02471:Cldn18 APN 9 99,578,128 (GRCm39) missense probably benign 0.04
R0313:Cldn18 UTSW 9 99,580,967 (GRCm39) missense probably benign 0.00
R5384:Cldn18 UTSW 9 99,591,911 (GRCm39) missense possibly damaging 0.93
R6337:Cldn18 UTSW 9 99,591,995 (GRCm39) missense probably benign 0.09
R6419:Cldn18 UTSW 9 99,574,801 (GRCm39) missense possibly damaging 0.65
R8943:Cldn18 UTSW 9 99,578,162 (GRCm39) missense probably benign 0.01
R9521:Cldn18 UTSW 9 99,581,028 (GRCm39) critical splice acceptor site probably null
R9616:Cldn18 UTSW 9 99,580,915 (GRCm39) missense probably benign 0.15
Z1176:Cldn18 UTSW 9 99,580,900 (GRCm39) missense possibly damaging 0.63
Posted On 2015-04-16