Incidental Mutation 'R6576:Cldn15'
ID 523498
Institutional Source Beutler Lab
Gene Symbol Cldn15
Ensembl Gene ENSMUSG00000001739
Gene Name claudin 15
Synonyms 2210009B08Rik
MMRRC Submission 044700-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6576 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 136996723-137004699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137003470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 157 (E157D)
Ref Sequence ENSEMBL: ENSMUSP00000106722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001790] [ENSMUST00000111093]
AlphaFold Q9Z0S5
Predicted Effect probably damaging
Transcript: ENSMUST00000001790
AA Change: E157D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739
AA Change: E157D

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111093
AA Change: E157D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739
AA Change: E157D

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 92% (34/37)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,450,842 (GRCm39) T102S possibly damaging Het
Aff4 C A 11: 53,291,268 (GRCm39) H743N probably damaging Het
Apba3 A G 10: 81,108,925 (GRCm39) T563A probably benign Het
Arhgap20 T C 9: 51,760,578 (GRCm39) S774P probably benign Het
Asap2 A G 12: 21,294,704 (GRCm39) Y528C probably damaging Het
Cep162 A G 9: 87,099,198 (GRCm39) S767P probably benign Het
Ces1b T A 8: 93,783,547 (GRCm39) T558S probably benign Het
Chd8 T C 14: 52,453,533 (GRCm39) Y1176C probably damaging Het
Col4a3 T A 1: 82,686,295 (GRCm39) probably null Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Dnaaf3 A G 7: 4,526,379 (GRCm39) I566T probably benign Het
Drc7 A T 8: 95,801,886 (GRCm39) I716F probably damaging Het
Eddm13 G A 7: 6,280,541 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,506 (GRCm39) T339I probably damaging Het
Fat4 T C 3: 39,033,839 (GRCm39) I2497T probably benign Het
Fmo6 A G 1: 162,750,264 (GRCm39) F264S probably damaging Het
Gtf2i T C 5: 134,292,556 (GRCm39) D356G probably damaging Het
Id1 T C 2: 152,578,583 (GRCm39) V108A probably benign Het
Kcnq3 T C 15: 65,897,027 (GRCm39) D291G possibly damaging Het
Klc3 G T 7: 19,131,905 (GRCm39) D157E possibly damaging Het
Lasp1 C T 11: 97,724,402 (GRCm39) R94C probably damaging Het
Lmbr1 A T 5: 29,496,308 (GRCm39) M93K probably damaging Het
Lrrc75a G A 11: 62,496,695 (GRCm39) P289L probably damaging Het
Med11 G T 11: 70,343,996 (GRCm39) K105N probably benign Het
Mrgprx2 A T 7: 48,132,380 (GRCm39) I146N probably damaging Het
Mrpl20 A G 4: 155,891,371 (GRCm39) I69V probably benign Het
Pik3c3 A G 18: 30,475,794 (GRCm39) probably benign Het
Rad54b T A 4: 11,601,577 (GRCm39) N377K probably benign Het
Rilp A G 11: 75,403,218 (GRCm39) probably null Het
Ripk2 A T 4: 16,131,558 (GRCm39) probably null Het
Rnf167 A C 11: 70,540,588 (GRCm39) K156T possibly damaging Het
Shld2 T C 14: 33,990,199 (GRCm39) T236A probably damaging Het
Snx29 T C 16: 11,532,920 (GRCm39) probably null Het
Sox6 T A 7: 115,300,937 (GRCm39) I177F probably damaging Het
Tln1 A T 4: 43,555,419 (GRCm39) probably null Het
Unc13a T A 8: 72,106,122 (GRCm39) T661S probably benign Het
Vmn2r23 A G 6: 123,710,232 (GRCm39) T512A probably benign Het
Vmn2r87 G A 10: 130,314,654 (GRCm39) L311F probably benign Het
Wdr64 G T 1: 175,633,494 (GRCm39) S915I possibly damaging Het
Xpo5 T A 17: 46,551,734 (GRCm39) probably null Het
Zswim8 T C 14: 20,771,942 (GRCm39) V1548A probably benign 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
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
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'- TTTTCTCCAGGAGCCTGTGG -3'
(R):5'- CAACCGTAGAAGGCTTGTAGG -3'

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