Incidental Mutation 'R8796:Cldn15'
ID 671254
Institutional Source Beutler Lab
Gene Symbol Cldn15
Ensembl Gene ENSMUSG00000001739
Gene Name claudin 15
Synonyms 2210009B08Rik
MMRRC Submission 068637-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8796 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 136996723-137004699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137003351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 147 (F147L)
Ref Sequence ENSEMBL: ENSMUSP00000001790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001790] [ENSMUST00000111093]
AlphaFold Q9Z0S5
PDB Structure Crystal structure of mouse claudin-15 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000001790
AA Change: F147L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739
AA Change: F147L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111093
AA Change: F147L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739
AA Change: F147L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.5e-36 PFAM
Pfam:Claudin_2 12 181 2.2e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (51/53)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,629,482 (GRCm39) T182S possibly damaging Het
Abca12 A C 1: 71,297,248 (GRCm39) probably benign Het
Aco1 T A 4: 40,179,037 (GRCm39) D345E probably benign Het
Acp6 T C 3: 97,066,509 (GRCm39) V9A probably benign Het
Akap1 A C 11: 88,730,498 (GRCm39) I597S probably damaging Het
B4galnt4 C T 7: 140,647,488 (GRCm39) T385I probably damaging Het
Bbof1 A T 12: 84,460,068 (GRCm39) T112S possibly damaging Het
Chd7 C A 4: 8,838,691 (GRCm39) H1297N probably damaging Het
Coq7 C T 7: 118,126,640 (GRCm39) E143K probably damaging Het
Ctnnb1 A G 9: 120,784,498 (GRCm39) N430S probably damaging Het
Cxcl12 G T 6: 117,155,553 (GRCm39) K92N possibly damaging Het
Dscaml1 T C 9: 45,359,026 (GRCm39) F95S probably damaging Het
Epha5 T A 5: 84,255,850 (GRCm39) H480L probably damaging Het
Fbxo30 G A 10: 11,165,320 (GRCm39) C14Y probably damaging Het
Gja5 A G 3: 96,958,419 (GRCm39) I159V possibly damaging Het
Herc2 A T 7: 55,785,123 (GRCm39) Q1487L probably benign Het
Hipk2 T A 6: 38,675,158 (GRCm39) Q1168L probably damaging Het
Kcnk12 T A 17: 88,054,020 (GRCm39) Y214F probably damaging Het
Kif5b T C 18: 6,226,965 (GRCm39) K98E probably benign Het
Lama1 T A 17: 68,117,146 (GRCm39) N2480K Het
Lrp1b A G 2: 40,793,426 (GRCm39) C2610R Het
Mast4 T C 13: 102,919,899 (GRCm39) Y536C probably benign Het
Ntrk1 A G 3: 87,690,422 (GRCm39) S407P probably benign Het
Ogdh T A 11: 6,297,129 (GRCm39) M527K possibly damaging Het
Or51b6 T C 7: 103,556,201 (GRCm39) V182A Het
Or5m9b G A 2: 85,905,518 (GRCm39) V145M possibly damaging Het
Plxdc1 A G 11: 97,847,407 (GRCm39) S89P probably benign Het
Prdm2 A G 4: 142,860,017 (GRCm39) I1091T probably benign Het
Psg16 C A 7: 16,827,814 (GRCm39) H166N possibly damaging Het
Qrfpr T A 3: 36,234,345 (GRCm39) Y332F probably damaging Het
Rab31 A T 17: 66,079,529 (GRCm39) I4K possibly damaging Het
Ranbp10 C A 8: 106,499,665 (GRCm39) probably benign Het
Rasgrf2 T C 13: 92,038,685 (GRCm39) S453G Het
Rxfp2 C T 5: 149,942,262 (GRCm39) probably benign Het
S100a8 A G 3: 90,576,865 (GRCm39) E6G probably damaging Het
Sart1 T C 19: 5,438,376 (GRCm39) K94E probably damaging Het
Sema4d A T 13: 51,865,546 (GRCm39) F297I probably damaging Het
Sgk2 A G 2: 162,848,723 (GRCm39) K287E probably damaging Het
Sgsm1 T A 5: 113,411,123 (GRCm39) T868S probably benign Het
Skint6 G T 4: 112,661,891 (GRCm39) T1231K possibly damaging Het
Slc35b3 C T 13: 39,121,722 (GRCm39) probably benign Het
Slf1 A T 13: 77,214,784 (GRCm39) M634K probably benign Het
Slit2 A G 5: 48,460,190 (GRCm39) D1424G probably benign Het
Snx21 G A 2: 164,628,749 (GRCm39) V131I possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Tas1r3 A G 4: 155,945,848 (GRCm39) V516A probably benign Het
Tas2r120 A T 6: 132,634,081 (GRCm39) R54S probably damaging Het
Tmem109 A T 19: 10,849,995 (GRCm39) L99Q probably damaging Het
Tnfrsf1b A G 4: 144,946,485 (GRCm39) S309P possibly damaging Het
Trav11 C T 14: 53,757,227 (GRCm39) A85V probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttn G A 2: 76,653,314 (GRCm39) R12631C possibly damaging Het
Vmn2r10 T A 5: 109,143,917 (GRCm39) T678S possibly damaging Het
Vmn2r124 T C 17: 18,282,933 (GRCm39) M209T possibly damaging Het
Vmn2r24 A T 6: 123,757,500 (GRCm39) M123L probably benign Het
Wdr41 T G 13: 95,151,575 (GRCm39) L245R possibly damaging Het
Wwp2 G T 8: 108,283,189 (GRCm39) G814W 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
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
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'- ACATGACATTCCGTCCCTGC -3'
(R):5'- GGATGCTGTGGTAATCACTCC -3'

Sequencing Primer
(F):5'- GACATTCCGTCCCTGCTCCTG -3'
(R):5'- GATGCTGTGGTAATCACTCCATACC -3'
Posted On 2021-04-30