Incidental Mutation 'R9356:Cldn15'
ID 708409
Institutional Source Beutler Lab
Gene Symbol Cldn15
Ensembl Gene ENSMUSG00000001739
Gene Name claudin 15
Synonyms 2210009B08Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9356 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 136996723-137004699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136996968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 3 (V3A)
Ref Sequence ENSEMBL: ENSMUSP00000001790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001790] [ENSMUST00000019198] [ENSMUST00000111093] [ENSMUST00000111094] [ENSMUST00000111097]
AlphaFold Q9Z0S5
PDB Structure Crystal structure of mouse claudin-15 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000001790
AA Change: V3A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739
AA Change: V3A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019198
SMART Domains Protein: ENSMUSP00000019198
Gene: ENSMUSG00000019054

DomainStartEndE-ValueType
Pfam:Fis1_TPR_N 33 65 2.3e-18 PFAM
Pfam:Fis1_TPR_C 71 123 2.1e-27 PFAM
low complexity region 124 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111093
AA Change: V3A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739
AA Change: V3A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.5e-36 PFAM
Pfam:Claudin_2 12 181 2.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111094
SMART Domains Protein: ENSMUSP00000106723
Gene: ENSMUSG00000019054

DomainStartEndE-ValueType
Pfam:Fis1_TPR_N 25 59 3.1e-20 PFAM
Pfam:Fis1_TPR_C 64 116 6.1e-28 PFAM
low complexity region 117 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111097
SMART Domains Protein: ENSMUSP00000106726
Gene: ENSMUSG00000019054

DomainStartEndE-ValueType
Pfam:Fis1_TPR_C 21 73 1.4e-28 PFAM
low complexity region 74 97 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,206,305 (GRCm39) V202M probably benign Het
Ago3 A T 4: 126,264,144 (GRCm39) I354N probably damaging Het
Ankrd50 A T 3: 38,510,236 (GRCm39) D710E probably damaging Het
Apba2 A T 7: 64,345,421 (GRCm39) N204Y probably damaging Het
Arrdc4 A G 7: 68,394,627 (GRCm39) V139A possibly damaging Het
Baz1b A G 5: 135,239,653 (GRCm39) E251G probably benign Het
Calcr T C 6: 3,687,408 (GRCm39) D530G probably benign Het
Chrna7 A T 7: 62,757,437 (GRCm39) V154E probably damaging Het
Csmd1 A T 8: 16,252,069 (GRCm39) L929Q probably damaging Het
Ctss A C 3: 95,454,120 (GRCm39) H224P possibly damaging Het
Cyp4a12a C A 4: 115,185,915 (GRCm39) H408N probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpr162 T C 6: 124,838,297 (GRCm39) M118V possibly damaging Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Igfn1 A T 1: 135,899,825 (GRCm39) C495* probably null Het
Ints9 T C 14: 65,269,770 (GRCm39) S487P probably benign Het
Jmjd4 T A 11: 59,345,761 (GRCm39) D280E probably benign Het
Krtap1-4 G A 11: 99,474,169 (GRCm39) Q96* probably null Het
Ksr2 T A 5: 117,827,706 (GRCm39) I495N probably benign Het
Lama2 T A 10: 27,088,186 (GRCm39) N864Y probably damaging Het
Lce1f TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT 3: 92,626,272 (GRCm39) probably benign Het
Lig4 A G 8: 10,022,538 (GRCm39) V414A possibly damaging Het
Lman2l A G 1: 36,467,415 (GRCm39) F211S probably damaging Het
Lmtk3 A G 7: 45,443,312 (GRCm39) E665G probably damaging Het
Mdm4 G A 1: 132,938,837 (GRCm39) L86F probably damaging Het
Mfsd10 C A 5: 34,794,048 (GRCm39) E22* probably null Het
Mindy1 C T 3: 95,202,590 (GRCm39) L394F probably benign Het
Mroh4 T C 15: 74,482,760 (GRCm39) M735V probably benign Het
Myo7a T A 7: 97,725,873 (GRCm39) M1060L probably benign Het
Myo7b C A 18: 32,110,096 (GRCm39) S1122I probably damaging Het
Nudt17 T A 3: 96,613,688 (GRCm39) R313S probably damaging Het
Or52n5 A G 7: 104,588,373 (GRCm39) I213M probably benign Het
Or5w15 T A 2: 87,568,089 (GRCm39) Q193L probably benign Het
Or6c65 T G 10: 129,604,035 (GRCm39) I223M possibly damaging Het
Or8h7 T A 2: 86,720,605 (GRCm39) M305L probably benign Het
Otogl T C 10: 107,617,890 (GRCm39) Y1741C probably damaging Het
Pja2 A G 17: 64,618,204 (GRCm39) V65A probably damaging Het
Primpol A G 8: 47,043,318 (GRCm39) V325A probably benign Het
Prss36 T C 7: 127,545,697 (GRCm39) probably benign Het
Ptpn20 T G 14: 33,352,865 (GRCm39) Y201* probably null Het
Rundc3a T C 11: 102,292,890 (GRCm39) S428P probably damaging Het
Rxra T A 2: 27,649,675 (GRCm39) L460Q probably damaging Het
Sdsl C T 5: 120,597,948 (GRCm39) V182M probably damaging Het
Slc14a2 A C 18: 78,227,823 (GRCm39) I226S probably null Het
Spam1 T A 6: 24,800,565 (GRCm39) C435S probably damaging Het
Spata31h1 T C 10: 82,125,157 (GRCm39) K2618E possibly damaging Het
Stbd1 A G 5: 92,753,277 (GRCm39) T256A possibly damaging Het
Ttc39c T A 18: 12,853,102 (GRCm39) probably null Het
Uba3 T C 6: 97,161,811 (GRCm39) D440G probably benign Het
Ythdf1 A C 2: 180,553,998 (GRCm39) S72R probably benign Het
Zfp770 T C 2: 114,026,917 (GRCm39) E384G possibly damaging Het
Zfp979 G T 4: 147,698,358 (GRCm39) T117K probably damaging 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
R6596:Cldn15 UTSW 5 137,003,533 (GRCm39) nonsense probably null
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
R9407:Cldn15 UTSW 5 137,003,765 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAATCAACAGCTGCGGAG -3'
(R):5'- ACGGAAAGTCCCAGCAGTTG -3'

Sequencing Primer
(F):5'- ATTCCTCTGACCTGCCAGGAAG -3'
(R):5'- AGCAGTTGGAGACTCCCAG -3'
Posted On 2022-04-18