Incidental Mutation 'IGL02112:Cldn18'
ID280219
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 #IGL02112
Quality Score
Status
Chromosome9
Chromosomal Location99689461-99717267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99698075 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 170 (T170S)
Ref Sequence ENSEMBL: ENSMUSP00000115782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035048] [ENSMUST00000112882] [ENSMUST00000131922] [ENSMUST00000136429]
Predicted Effect probably benign
Transcript: ENSMUST00000035048
AA Change: T170S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: T170S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 1e-28 PFAM
Pfam:Claudin_2 15 197 3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112882
AA Change: T170S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: T170S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 4.2e-30 PFAM
Pfam:Claudin_2 15 197 4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131922
AA Change: T170S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473
AA Change: T170S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 1.9e-30 PFAM
Pfam:Claudin_2 15 197 1.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136429
AA Change: T170S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473
AA Change: T170S

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik G T 11: 76,003,388 C197F probably benign Het
Adam34 T A 8: 43,651,138 Y490F possibly damaging Het
Appbp2 A T 11: 85,201,620 H271Q probably benign Het
Arhgap17 A T 7: 123,318,417 D181E possibly damaging Het
Arhgap25 T A 6: 87,467,937 Y286F possibly damaging Het
Atf2 T C 2: 73,819,037 K352R probably damaging Het
Bdp1 G A 13: 100,037,800 T2076I probably benign Het
C1s2 A G 6: 124,625,308 V642A probably benign Het
Cntnap5c T A 17: 58,313,858 H977Q probably benign Het
Col15a1 T A 4: 47,253,985 probably benign Het
Csmd1 A T 8: 16,081,705 Y1669N probably benign Het
Csmd3 A C 15: 48,313,869 S424R possibly damaging Het
Cyp4a31 A G 4: 115,570,983 D306G probably damaging Het
Dusp27 C A 1: 166,099,671 E791* probably null Het
E2f2 A G 4: 136,192,834 T377A probably benign Het
Edil3 A G 13: 89,180,255 D276G probably damaging Het
Ei24 A T 9: 36,782,342 Y305N probably damaging Het
Erbin T C 13: 103,862,336 N181D probably benign Het
Gli3 A G 13: 15,662,514 Q494R probably damaging Het
Gm16519 T C 17: 70,929,296 I80T probably damaging Het
Haus8 T A 8: 71,255,561 E163V probably damaging Het
Hephl1 G T 9: 15,081,815 probably benign Het
Hnrnph3 A G 10: 63,016,405 probably null Het
Mast2 A T 4: 116,319,764 C437S probably damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Mfge8 A T 7: 79,143,340 V126D probably benign Het
Nrd1 A G 4: 109,027,432 probably benign Het
Olfr77 T A 9: 19,920,525 N105K possibly damaging Het
Panx2 A G 15: 89,069,569 T576A probably benign Het
Per3 T C 4: 151,029,183 Y306C probably benign Het
Ppm1h G A 10: 122,802,400 G192R possibly damaging Het
Prss22 T C 17: 23,993,971 E264G probably damaging Het
Rasa3 A G 8: 13,585,042 probably benign Het
Rpl7a-ps8 C A 7: 19,954,060 probably benign Het
Rundc1 A G 11: 101,433,599 D377G probably benign Het
Sh3bp1 T C 15: 78,905,884 probably null Het
Sobp A G 10: 43,021,877 S571P probably benign Het
Syce1 C A 7: 140,779,632 M114I probably benign Het
Tdrd6 G A 17: 43,629,351 R269W probably damaging Het
Tmprss13 T C 9: 45,339,404 S408P probably damaging Het
Tonsl T C 15: 76,633,402 T706A probably benign Het
Tpcn2 A G 7: 145,256,792 S603P probably benign Het
Trmt12 A T 15: 58,872,816 Q21L probably damaging Het
Vmn1r68 C T 7: 10,527,860 G104S probably damaging Het
Vmn2r82 T C 10: 79,395,999 W611R probably benign Het
Vmn2r90 C A 17: 17,712,203 T124K probably damaging Het
Vmn2r99 A G 17: 19,380,232 E506G probably null 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
IGL02471:Cldn18 APN 9 99696075 missense probably benign 0.04
IGL02619:Cldn18 APN 9 99698935 missense probably damaging 0.97
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