Incidental Mutation 'R8943:Cldn18'
ID 681104
Institutional Source Beutler Lab
Gene Symbol Cldn18
Ensembl Gene ENSMUSG00000032473
Gene Name claudin 18
Synonyms
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 99572849-99599320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99578162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 194 (M194V)
Ref Sequence ENSEMBL: ENSMUSP00000108503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035048] [ENSMUST00000112882] [ENSMUST00000131922] [ENSMUST00000136429]
AlphaFold P56857
Predicted Effect probably benign
Transcript: ENSMUST00000035048
AA Change: M194V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: M194V

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: M194V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: M194V

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: M194V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473
AA Change: M194V

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: M194V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473
AA Change: M194V

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 4e-29 PFAM
Pfam:Claudin_2 6 197 1e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TAAAAGAGGAAGTTCATCGCTCC -3'
(R):5'- GATTCCATCACTCTTAAGCGCC -3'

Sequencing Primer
(F):5'- AGAGGAAGTTCATCGCTCCCTTAG -3'
(R):5'- AGGCTCTCTCTTTGAACAGCAGAG -3'
Posted On 2021-08-31