Incidental Mutation 'IGL00843:Cldn18'
ID 9730
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 # IGL00843
Quality Score
Status
Chromosome 9
Chromosomal Location 99572849-99599320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99580874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 125 (F125I)
Ref Sequence ENSEMBL: ENSMUSP00000115782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035048] [ENSMUST00000112882] [ENSMUST00000131922] [ENSMUST00000136429]
AlphaFold P56857
Predicted Effect probably benign
Transcript: ENSMUST00000035048
AA Change: F125I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: F125I

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: F125I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: F125I

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: F125I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473
AA Change: F125I

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: F125I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473
AA Change: F125I

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,291,657 (GRCm39) probably null Het
Bpnt2 T C 4: 4,776,308 (GRCm39) probably benign Het
Clcn2 T C 16: 20,522,391 (GRCm39) T772A probably benign Het
Ehhadh A G 16: 21,581,379 (GRCm39) S538P possibly damaging Het
Ets2 T G 16: 95,510,837 (GRCm39) F32V probably benign Het
F5 G A 1: 164,039,360 (GRCm39) R1990Q probably benign Het
Fetub A G 16: 22,748,379 (GRCm39) probably benign Het
Hecw1 C T 13: 14,422,158 (GRCm39) E983K probably benign Het
Hemgn A G 4: 46,396,240 (GRCm39) M332T probably benign Het
Hmcn1 A G 1: 150,486,464 (GRCm39) I4314T possibly damaging Het
Lonrf2 C A 1: 38,851,616 (GRCm39) probably benign Het
Lrrc9 T C 12: 72,510,191 (GRCm39) I430T possibly damaging Het
Lrrk2 T C 15: 91,641,261 (GRCm39) V1606A possibly damaging Het
Oog2 G T 4: 143,921,742 (GRCm39) L217F probably damaging Het
Plxnc1 T C 10: 94,683,411 (GRCm39) H791R probably benign Het
Prdm2 G A 4: 142,860,884 (GRCm39) S802L probably damaging Het
Prss32 T A 17: 24,076,336 (GRCm39) L233Q probably damaging Het
Rapgef6 T A 11: 54,582,099 (GRCm39) V1337E probably benign Het
Slc15a3 T A 19: 10,830,627 (GRCm39) M326K probably null Het
Slc25a54 A T 3: 109,020,176 (GRCm39) T397S possibly damaging Het
Slfn3 C T 11: 83,104,257 (GRCm39) T376M probably damaging Het
Stradb T A 1: 59,033,568 (GRCm39) D410E probably benign Het
Tdh T C 14: 63,733,213 (GRCm39) T178A probably damaging Het
Tspan12 T A 6: 21,851,081 (GRCm39) probably benign Het
Ube2b A T 11: 51,886,202 (GRCm39) D50E probably benign Het
Zranb1 A C 7: 132,551,622 (GRCm39) H117P probably benign Het
Other mutations in Cldn18
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02619:Cldn18 APN 9 99,580,988 (GRCm39) missense probably damaging 0.97
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 2012-12-06