Incidental Mutation 'R0313:Cldn18'
ID 25340
Institutional Source Beutler Lab
Gene Symbol Cldn18
Ensembl Gene ENSMUSG00000032473
Gene Name claudin 18
Synonyms
MMRRC Submission 038523-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0313 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 99572849-99599320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99580967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 94 (I94V)
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: I94V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000035048
Gene: ENSMUSG00000032473
AA Change: I94V

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: I94V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108503
Gene: ENSMUSG00000032473
AA Change: I94V

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: I94V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000117382
Gene: ENSMUSG00000032473
AA Change: I94V

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: I94V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000115782
Gene: ENSMUSG00000032473
AA Change: I94V

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 195 4e-29 PFAM
Pfam:Claudin_2 6 197 1e-16 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.9%
  • 20x: 88.5%
Validation Efficiency 98% (40/41)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,649,082 (GRCm39) E309G probably benign Het
Ankmy1 C T 1: 92,813,943 (GRCm39) G412D probably damaging Het
Cc2d1a G A 8: 84,863,598 (GRCm39) T542I probably benign Het
Cobll1 G A 2: 64,926,088 (GRCm39) R1195* probably null Het
Dnah7b A G 1: 46,246,803 (GRCm39) T1660A probably damaging Het
Dzip3 G T 16: 48,757,424 (GRCm39) Q870K probably damaging Het
Ebf4 T C 2: 130,148,707 (GRCm39) probably benign Het
Ecpas A G 4: 58,811,892 (GRCm39) I1411T probably benign Het
Esyt2 T C 12: 116,311,428 (GRCm39) L439P probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Haspin A G 11: 73,027,124 (GRCm39) V655A probably damaging Het
Kmt2c T C 5: 25,549,928 (GRCm39) E1351G probably damaging Het
Lama2 C A 10: 26,869,394 (GRCm39) probably null Het
Lcp1 A G 14: 75,436,873 (GRCm39) E73G probably damaging Het
Ltv1 C T 10: 13,058,604 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,002,366 (GRCm39) Y529C probably damaging Het
Myo3b T A 2: 70,179,303 (GRCm39) Y1172* probably null Het
Ncf1 T C 5: 134,258,421 (GRCm39) M1V probably null Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Or6c8b A G 10: 128,882,695 (GRCm39) V79A possibly damaging Het
Or8c10 T C 9: 38,279,600 (GRCm39) S243P probably damaging Het
Pcif1 A T 2: 164,726,339 (GRCm39) H80L probably damaging Het
Pclo T C 5: 14,728,887 (GRCm39) probably benign Het
Polr2a T C 11: 69,625,906 (GRCm39) Y1710C unknown Het
Ppp1r37 G A 7: 19,267,923 (GRCm39) T324I probably damaging Het
Prmt1 T C 7: 44,628,172 (GRCm39) D176G probably benign Het
Scn5a T C 9: 119,363,637 (GRCm39) D501G probably damaging Het
Ska2 A G 11: 87,008,640 (GRCm39) I89M possibly damaging Het
Slc39a7 G A 17: 34,248,518 (GRCm39) A375V probably damaging Het
Ssrp1 T A 2: 84,871,898 (GRCm39) I374N probably damaging Het
Stox2 C T 8: 47,645,169 (GRCm39) G828R probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Uqcrc1 C A 9: 108,777,642 (GRCm39) R114S possibly damaging Het
Usp38 A T 8: 81,711,071 (GRCm39) L988* probably null Het
Vmn2r5 T A 3: 64,411,248 (GRCm39) H440L probably benign Het
Wdr12 A T 1: 60,121,738 (GRCm39) I271N possibly damaging Het
Xylt2 C T 11: 94,560,720 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATCTCGAATCCCAGTGTGAAACACC -3'
(R):5'- ACAAGTGATGCCTTTTGGCATTTCC -3'

Sequencing Primer
(F):5'- CAGTGTGAAACACCTTGAGC -3'
(R):5'- AACTCCACATTTTTGCACAGTG -3'
Posted On 2013-04-16