Incidental Mutation 'R7721:Cldn15'
ID 595219
Institutional Source Beutler Lab
Gene Symbol Cldn15
Ensembl Gene ENSMUSG00000001739
Gene Name claudin 15
Synonyms 2210009B08Rik
MMRRC Submission 045777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7721 (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 G at 136997015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 19 (M19V)
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: M19V

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739
AA Change: M19V

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: M19V

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739
AA Change: M19V

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
Meta Mutation Damage Score 0.3125 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,784,929 (GRCm39) probably null Het
Adamtsl3 T G 7: 82,255,728 (GRCm39) M1580R possibly damaging Het
Alg9 T C 9: 50,687,942 (GRCm39) I78T probably damaging Het
Ankmy2 G T 12: 36,207,143 (GRCm39) probably benign Het
Ankrd11 G T 8: 123,621,498 (GRCm39) L785M probably damaging Het
Atrnl1 T A 19: 57,684,763 (GRCm39) D796E probably benign Het
C1s2 A G 6: 124,607,017 (GRCm39) V277A possibly damaging Het
Ccdc121rt3 A G 5: 112,503,383 (GRCm39) I107T probably benign Het
Cldn23 T G 8: 36,293,417 (GRCm39) S24R possibly damaging Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Csf2ra A T 19: 61,215,024 (GRCm39) W147R probably damaging Het
Ctsb G T 14: 63,370,765 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,088,874 (GRCm39) M34T probably benign Het
Dmtf1 T C 5: 9,176,564 (GRCm39) I463V probably damaging Het
Dnah7a T A 1: 53,670,842 (GRCm39) D470V probably benign Het
Dtx4 A G 19: 12,459,500 (GRCm39) S435P probably benign Het
Ear2 T A 14: 44,340,495 (GRCm39) M51K probably damaging Het
Efcab3 T A 11: 104,615,366 (GRCm39) L711* probably null Het
Elmo1 T A 13: 20,464,973 (GRCm39) probably null Het
Faf1 T A 4: 109,593,794 (GRCm39) I124N probably damaging Het
Gkap1 A C 13: 58,384,799 (GRCm39) probably null Het
Glipr2 T C 4: 43,957,770 (GRCm39) S4P probably benign Het
Gm38119 A T 3: 92,645,337 (GRCm39) C86S unknown Het
Gpr171 T G 3: 59,005,320 (GRCm39) I152L probably benign Het
Hes7 T A 11: 69,012,352 (GRCm39) T9S unknown Het
Homer3 T C 8: 70,743,662 (GRCm39) V180A probably benign Het
Irx1 T A 13: 72,108,176 (GRCm39) M169L probably benign Het
Kap A G 6: 133,828,690 (GRCm39) probably null Het
Mgat5b A G 11: 116,857,627 (GRCm39) M2V Het
Mob4 C T 1: 55,187,479 (GRCm39) Q76* probably null Het
Or10w3 T A 19: 13,704,207 (GRCm39) I194N possibly damaging Het
Or8b47 A T 9: 38,435,013 (GRCm39) probably null Het
Or8g26 A G 9: 39,096,056 (GRCm39) D191G probably benign Het
Pate14 C T 9: 36,549,159 (GRCm39) G34R possibly damaging Het
Pcdha9 A T 18: 37,132,689 (GRCm39) Q586L probably benign Het
Pgk2 T A 17: 40,518,409 (GRCm39) I340F probably benign Het
Prex1 G A 2: 166,419,810 (GRCm39) Q1289* probably null Het
Prr22 A G 17: 57,078,819 (GRCm39) D324G possibly damaging Het
Rab2b A T 14: 52,501,217 (GRCm39) S201T probably benign Het
Rdh1 T A 10: 127,596,121 (GRCm39) probably null Het
Rhbdl1 G T 17: 26,055,123 (GRCm39) N82K probably benign Het
Rspo1 C A 4: 124,885,210 (GRCm39) Q29K possibly damaging Het
Rtp3 A T 9: 110,814,948 (GRCm39) Y472* probably null Het
Senp5 T A 16: 31,809,252 (GRCm39) M1L unknown Het
Slfn4 A T 11: 83,078,389 (GRCm39) probably null Het
Stab1 A G 14: 30,863,413 (GRCm39) V2091A possibly damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tpr A G 1: 150,320,180 (GRCm39) T2243A probably benign Het
Tubgcp6 A T 15: 88,985,604 (GRCm39) N1544K probably damaging Het
Uqcc1 T C 2: 155,700,066 (GRCm39) N202S probably benign Het
Vmn2r18 C T 5: 151,510,158 (GRCm39) E72K possibly damaging Het
Zfp654 C A 16: 64,606,570 (GRCm39) C3F probably damaging Het
Zfp804b T C 5: 6,821,263 (GRCm39) E600G possibly 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
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'- ACAAGAATCGCAGCTGGATG -3'
(R):5'- AGGATCACTCCACCTAGCTC -3'

Sequencing Primer
(F):5'- TGGATGAGCGCTCCTTCAG -3'
(R):5'- AACCTCTCTCTGTCCCCTAGAG -3'
Posted On 2019-11-12