Incidental Mutation 'IGL02619:Cldn18'
ID300767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn18
Ensembl Gene ENSMUSG00000032473
Gene Nameclaudin 18
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02619
Quality Score
Status
Chromosome9
Chromosomal Location99689461-99717267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99698935 bp
ZygosityHeterozygous
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]
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: 179,792,451 G220E possibly damaging Het
Arhgef10l A G 4: 140,594,193 I101T probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Camkk2 A T 5: 122,764,235 C4S probably damaging Het
Ccdc174 T A 6: 91,899,557 D458E possibly damaging Het
Cercam A G 2: 29,880,674 N419S probably benign Het
Clca3a2 T C 3: 144,806,322 N551S probably damaging Het
Ctso T A 3: 81,941,529 probably benign Het
Ddhd2 C A 8: 25,746,954 probably null Het
Dscaml1 T A 9: 45,447,796 Y118N probably damaging Het
Ece1 C T 4: 137,938,733 A296V probably benign Het
Fbxo40 T A 16: 36,970,404 I115F possibly damaging Het
Fkbp9 T A 6: 56,850,624 N143K probably damaging Het
Foxk2 G T 11: 121,299,576 probably benign Het
Ggnbp1 A G 17: 27,029,555 K33E probably benign Het
Hace1 A T 10: 45,671,434 probably benign Het
Hk3 A T 13: 55,014,294 C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 A542V probably damaging Het
Lrch2 A C X: 147,480,541 V363G probably damaging Het
Lrch2 C T X: 147,519,135 C264Y probably damaging Het
Lrrc56 C A 7: 141,207,633 probably benign Het
Lrtm2 C T 6: 119,317,238 V311M probably damaging Het
N4bp1 G T 8: 86,860,901 Q470K probably benign Het
Naa15 A C 3: 51,460,131 D575A probably benign Het
Ncaph A T 2: 127,127,536 V69D probably damaging Het
Nlrp5 G A 7: 23,424,064 probably null Het
Nmbr A G 10: 14,760,587 D100G probably damaging Het
Ofcc1 C T 13: 40,097,077 V588M possibly damaging Het
Olfr142 G T 2: 90,252,505 T161N probably damaging Het
Olfr481 C A 7: 108,081,742 probably benign Het
Osmr C A 15: 6,841,994 R314M probably damaging Het
Pcdhb16 C T 18: 37,478,217 Q77* probably null Het
Pglyrp4 G A 3: 90,735,648 probably null Het
Ptprh A G 7: 4,549,499 F922S probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rp1 T A 1: 4,348,450 Q813L possibly damaging Het
Sgtb A G 13: 104,118,414 N64S probably benign Het
Slc5a12 T C 2: 110,640,856 V481A probably benign Het
Slitrk1 A G 14: 108,911,917 V454A probably benign Het
Sntg2 C A 12: 30,267,026 probably null Het
Synj1 C T 16: 90,974,045 V499I probably damaging Het
Tmco1 T C 1: 167,326,028 probably benign Het
Tmem38b T C 4: 53,848,871 I92T probably damaging Het
Tmem9 T C 1: 136,027,407 V93A probably benign Het
Ttn T A 2: 76,795,238 R15080S possibly damaging Het
Ube2e3 T C 2: 78,918,721 I138T probably damaging Het
Urgcp A G 11: 5,715,752 I862T possibly damaging Het
Vmn1r68 A T 7: 10,527,676 I165N probably benign Het
Washc4 G A 10: 83,558,853 V316I possibly damaging Het
Zfp111 A T 7: 24,199,688 L166Q possibly damaging Het
Zfyve1 A T 12: 83,550,944 probably benign Het
Zscan18 A G 7: 12,774,866 probably benign Het
Other mutations in Cldn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Cldn18 APN 9 99698821 missense probably benign 0.29
IGL01317:Cldn18 APN 9 99696082 missense probably benign
IGL01804:Cldn18 APN 9 99698848 nonsense probably null
IGL02112:Cldn18 APN 9 99698075 missense probably benign 0.11
IGL02471:Cldn18 APN 9 99696075 missense probably benign 0.04
R0313:Cldn18 UTSW 9 99698914 missense probably benign 0.00
R5384:Cldn18 UTSW 9 99709858 missense possibly damaging 0.93
R6337:Cldn18 UTSW 9 99709942 missense probably benign 0.09
R6419:Cldn18 UTSW 9 99692748 missense possibly damaging 0.65
Z1176:Cldn18 UTSW 9 99698847 missense possibly damaging 0.63
Posted On2015-04-16