Incidental Mutation 'IGL01804:Cldn18'
ID 155606
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 # IGL01804
Quality Score
Status
Chromosome 9
Chromosomal Location 99572849-99599320 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 99580901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 116 (K116*)
Ref Sequence ENSEMBL: ENSMUSP00000115782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035048] [ENSMUST00000112882] [ENSMUST00000131922] [ENSMUST00000136429]
AlphaFold P56857
Predicted Effect probably null
Transcript: ENSMUST00000035048
AA Change: K116*
SMART Domains Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: K116*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 1e-28 PFAM
Pfam:Claudin_2 15 197 3e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112882
AA Change: K116*
SMART Domains Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: K116*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 4.2e-30 PFAM
Pfam:Claudin_2 15 197 4e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000131922
AA Change: K116*
SMART Domains Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473
AA Change: K116*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 1.9e-30 PFAM
Pfam:Claudin_2 15 197 1.9e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000136429
AA Change: K116*
SMART Domains Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473
AA Change: K116*

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,315,342 (GRCm39) N1860D probably benign Het
Abca2 T A 2: 25,336,637 (GRCm39) C2248S probably damaging Het
Adamts16 G A 13: 70,949,080 (GRCm39) Q194* probably null Het
Cetn3 A T 13: 81,932,779 (GRCm39) K13* probably null Het
Cntn5 T A 9: 9,831,542 (GRCm39) I613F probably damaging Het
Cyp46a1 A G 12: 108,321,745 (GRCm39) I324V probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dnajc2 A G 5: 21,962,361 (GRCm39) V539A probably damaging Het
Dock2 T A 11: 34,212,433 (GRCm39) Y1236F probably benign Het
Dpf1 T A 7: 29,015,926 (GRCm39) C383S probably damaging Het
Edc4 T A 8: 106,617,289 (GRCm39) I1052N possibly damaging Het
Ehmt1 A G 2: 24,681,966 (GRCm39) L1243P probably damaging Het
Exoc6b A G 6: 84,885,148 (GRCm39) S264P probably damaging Het
Gbx2 T C 1: 89,856,703 (GRCm39) E229G probably benign Het
Hip1r T A 5: 124,139,613 (GRCm39) probably null Het
Lig1 A G 7: 13,043,131 (GRCm39) K859E probably benign Het
Ly6g6f T C 17: 35,300,146 (GRCm39) D234G possibly damaging Het
Mmp11 G T 10: 75,764,304 (GRCm39) L54I probably benign Het
Naip5 A T 13: 100,358,092 (GRCm39) L1048Q probably damaging Het
Or4c122 C A 2: 89,079,566 (GRCm39) M157I probably benign Het
Or6k14 A G 1: 173,927,401 (GRCm39) I126V probably damaging Het
Or7g12 T A 9: 18,900,136 (GRCm39) M284K probably benign Het
Or8g17 T C 9: 38,930,697 (GRCm39) I47V probably benign Het
Pappa2 T C 1: 158,764,089 (GRCm39) D474G probably benign Het
Plxna1 A G 6: 89,306,628 (GRCm39) Y1401H probably damaging Het
Prrg4 T A 2: 104,663,035 (GRCm39) E190D probably damaging Het
Rnf213 T C 11: 119,333,092 (GRCm39) F2767S probably damaging Het
Scgb1b2 T A 7: 30,991,155 (GRCm39) probably benign Het
Sec31a A G 5: 100,523,065 (GRCm39) probably null Het
Slc12a4 A G 8: 106,671,033 (GRCm39) S1014P probably damaging Het
Spns2 A T 11: 72,348,130 (GRCm39) I279N possibly damaging Het
Spta1 A T 1: 174,071,746 (GRCm39) H2242L probably benign Het
Tcaf3 T A 6: 42,574,063 (GRCm39) I50F probably damaging Het
Tnfaip8l1 G A 17: 56,479,214 (GRCm39) S168N probably benign Het
Trak1 C T 9: 121,271,751 (GRCm39) probably benign Het
Trpv4 A T 5: 114,782,847 (GRCm39) N38K possibly damaging Het
Ube2o T C 11: 116,435,199 (GRCm39) T530A probably benign Het
Vmn2r2 A G 3: 64,041,677 (GRCm39) V346A possibly damaging Het
Vmn2r86 A C 10: 130,288,858 (GRCm39) D214E probably damaging Het
Wwc1 C A 11: 35,732,751 (GRCm39) D986Y probably damaging Het
Xdh T C 17: 74,199,754 (GRCm39) D1184G probably damaging 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
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 2014-02-04