Incidental Mutation 'R6596:Cldn15'
ID 525964
Institutional Source Beutler Lab
Gene Symbol Cldn15
Ensembl Gene ENSMUSG00000001739
Gene Name claudin 15
Synonyms 2210009B08Rik
MMRRC Submission 044720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 136996723-137004699 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 137003533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 178 (C178*)
Ref Sequence ENSEMBL: ENSMUSP00000106722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001790] [ENSMUST00000111093]
AlphaFold Q9Z0S5
Predicted Effect probably null
Transcript: ENSMUST00000001790
AA Change: C178*
SMART Domains Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739
AA Change: C178*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.4e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111093
AA Change: C178*
SMART Domains Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739
AA Change: C178*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.5e-36 PFAM
Pfam:Claudin_2 12 181 2.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128391
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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 protein increases permeability for sodium ions in anion-selective epithelial cell sheets. The gene deficiency leads to megaintestine and decreases in intestinal epithelial paracellular ion permeability. This gene is a direct target for hepatocyte-nuclear-factor-4alpha, a mediator of ion epithelial transport, and is down-modulated in inflammatory bowel disease. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and grow normally with an enlarged upper small intestinal phenotype (megaintestine) resulting from enhanced proliferation of normal cryptic cells after weaning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,819,984 (GRCm39) C135S possibly damaging Het
Bag4 C T 8: 26,259,528 (GRCm39) D224N probably damaging Het
Col7a1 C A 9: 108,783,409 (GRCm39) probably benign Het
Crnn G A 3: 93,054,182 (GRCm39) E22K probably damaging Het
Dcstamp A C 15: 39,617,605 (GRCm39) T5P possibly damaging Het
Dennd4a A G 9: 64,759,702 (GRCm39) Y269C probably damaging Het
Dsg1c T A 18: 20,403,581 (GRCm39) probably null Het
Duox2 C T 2: 122,115,819 (GRCm39) V972I probably benign Het
Eif1ad15 C A 12: 88,288,057 (GRCm39) L65F possibly damaging Het
Ephb1 A C 9: 102,072,001 (GRCm39) Y259* probably null Het
Fam149a G T 8: 45,834,667 (GRCm39) T44K probably benign Het
Fn1 A G 1: 71,648,641 (GRCm39) Y1423H probably damaging Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gfm2 C T 13: 97,301,657 (GRCm39) P487S probably damaging Het
Hyou1 A G 9: 44,299,052 (GRCm39) E625G probably benign Het
Kmt5a G A 5: 124,588,759 (GRCm39) V121M probably benign Het
Mindy4 T C 6: 55,201,001 (GRCm39) S229P probably damaging Het
Muc16 T C 9: 18,478,011 (GRCm39) D7098G probably benign Het
Nsf A T 11: 103,801,283 (GRCm39) I244N probably damaging Het
Obox1 C T 7: 15,289,301 (GRCm39) S72L probably damaging Het
Or4b1 T A 2: 89,979,622 (GRCm39) T243S possibly damaging Het
Or5d38 C T 2: 87,954,543 (GRCm39) C262Y probably damaging Het
Pcdhb7 A T 18: 37,476,414 (GRCm39) I517F probably damaging Het
Plk2 C T 13: 110,534,296 (GRCm39) A292V probably benign Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rasgrf1 A T 9: 89,894,847 (GRCm39) N1089I possibly damaging Het
Robo2 T A 16: 73,767,996 (GRCm39) N603Y probably damaging Het
Slc35f4 G A 14: 49,763,057 (GRCm39) A5V probably damaging Het
Smc4 A T 3: 68,933,226 (GRCm39) I616F probably damaging Het
Sorl1 T G 9: 41,912,899 (GRCm39) N1361H possibly damaging Het
Syngr1 C T 15: 79,995,893 (GRCm39) T144M probably damaging Het
Tbc1d16 A C 11: 119,048,601 (GRCm39) W351G probably damaging Het
Tbx15 A G 3: 99,259,508 (GRCm39) S460G probably benign Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Tpte T C 8: 22,823,285 (GRCm39) L304P probably damaging Het
Tubgcp5 T A 7: 55,456,382 (GRCm39) F325I probably benign Het
Ucp3 A T 7: 100,131,140 (GRCm39) I198F probably benign Het
Vit T C 17: 78,930,274 (GRCm39) V413A probably benign Het
Xrcc6 T C 15: 81,907,155 (GRCm39) M1T probably null Het
Other mutations in Cldn15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02706:Cldn15 APN 5 137,003,685 (GRCm39) missense probably benign 0.00
R0395:Cldn15 UTSW 5 136,997,052 (GRCm39) missense possibly damaging 0.91
R2112:Cldn15 UTSW 5 136,997,016 (GRCm39) missense possibly damaging 0.93
R4647:Cldn15 UTSW 5 137,003,337 (GRCm39) missense probably damaging 1.00
R6383:Cldn15 UTSW 5 136,996,979 (GRCm39) missense probably benign 0.07
R6576:Cldn15 UTSW 5 137,003,470 (GRCm39) missense probably damaging 1.00
R7285:Cldn15 UTSW 5 137,001,327 (GRCm39) missense probably benign 0.01
R7721:Cldn15 UTSW 5 136,997,015 (GRCm39) missense probably benign 0.21
R7956:Cldn15 UTSW 5 137,003,504 (GRCm39) missense probably damaging 1.00
R8516:Cldn15 UTSW 5 137,003,550 (GRCm39) missense probably damaging 0.99
R8796:Cldn15 UTSW 5 137,003,351 (GRCm39) missense probably damaging 1.00
R9356:Cldn15 UTSW 5 136,996,968 (GRCm39) missense probably benign 0.08
R9407:Cldn15 UTSW 5 137,003,765 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGCCGTCAACATCACTACTG -3'
(R):5'- GATGTCACTCTCATCCGAGGTG -3'

Sequencing Primer
(F):5'- TTCAACCCACTGTATGCTGGAAC -3'
(R):5'- TGGCACGGGGTATCACAAC -3'
Posted On 2018-06-22