Incidental Mutation 'R8323:Cldn13'
ID 643914
Institutional Source Beutler Lab
Gene Symbol Cldn13
Ensembl Gene ENSMUSG00000008843
Gene Name claudin 13
Synonyms 2500004B14Rik
MMRRC Submission 067724-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8323 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 134943103-134944380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134943828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 119 (V119A)
Ref Sequence ENSEMBL: ENSMUSP00000008987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008987]
AlphaFold Q9Z0S4
Predicted Effect probably benign
Transcript: ENSMUST00000008987
AA Change: V119A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000008987
Gene: ENSMUSG00000008843
AA Change: V119A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 180 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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. The protein encoded by this gene is a developmentally expressed renal tight junction protein. This gene is expressed in the cecum, colon, liver and kidney of mice, but is not identified in rat tissues. Humans and chimpanzees lack this gene. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,351 (GRCm39) F6S probably benign Het
Braf T C 6: 39,620,058 (GRCm39) T507A possibly damaging Het
Catsperb A C 12: 101,375,658 (GRCm39) H24P probably benign Het
Ccdc57 G T 11: 120,788,750 (GRCm39) Q366K possibly damaging Het
Cep295 G T 9: 15,249,529 (GRCm39) T462K possibly damaging Het
Cep295 T A 9: 15,264,357 (GRCm39) R96S probably damaging Het
Cfap206 C T 4: 34,719,647 (GRCm39) E256K probably benign Het
Cfap251 A G 5: 123,435,588 (GRCm39) N1016S probably benign Het
Csmd1 G T 8: 17,266,751 (GRCm39) C58* probably null Het
Csmd3 T C 15: 47,561,547 (GRCm39) Y1343C Het
Dcbld2 T A 16: 58,283,473 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,109 (GRCm39) I2299V probably benign Het
Dsp C T 13: 38,356,806 (GRCm39) H229Y possibly damaging Het
Fam193b A T 13: 55,702,223 (GRCm39) C51* probably null Het
Fbxw10 G A 11: 62,767,506 (GRCm39) V781I probably benign Het
Fdps G T 3: 89,002,696 (GRCm39) P151T possibly damaging Het
Galk2 C T 2: 125,708,298 (GRCm39) H16Y probably benign Het
Gm1110 A G 9: 26,813,719 (GRCm39) probably null Het
Gm3727 C T 14: 7,261,693 (GRCm38) V204I probably benign Het
Gtf2h3 A G 5: 124,720,534 (GRCm39) I13V probably benign Het
H2-T24 T A 17: 36,328,431 (GRCm39) probably null Het
Heatr5a C T 12: 52,002,289 (GRCm39) V216M probably benign Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Igfbp2 C T 1: 72,888,780 (GRCm39) P224S probably damaging Het
Igkv17-127 A G 6: 67,838,498 (GRCm39) I70V possibly damaging Het
Kif11 T A 19: 37,372,692 (GRCm39) F27I possibly damaging Het
Lcor T C 19: 41,572,036 (GRCm39) S264P probably benign Het
Lrrc28 G T 7: 67,245,455 (GRCm39) T137K unknown Het
Lyg1 T A 1: 37,989,018 (GRCm39) R67S probably damaging Het
Ms4a10 G A 19: 10,940,363 (GRCm39) Q255* probably null Het
Myo1h A G 5: 114,480,200 (GRCm39) R512G Het
Nmnat3 T C 9: 98,292,276 (GRCm39) Y174H probably damaging Het
Nrap T C 19: 56,378,255 (GRCm39) I19V probably benign Het
Nsf C A 11: 103,819,665 (GRCm39) V35L probably benign Het
Or1e30 A T 11: 73,677,766 (GRCm39) M1L probably damaging Het
Or2w6 T A 13: 21,843,302 (GRCm39) M64L possibly damaging Het
Osbpl9 A G 4: 108,965,119 (GRCm39) S116P probably benign Het
Pcdhb15 A C 18: 37,608,715 (GRCm39) E649A probably benign Het
Pcdhb8 T A 18: 37,488,476 (GRCm39) D51E probably benign Het
Plcl1 T A 1: 55,736,895 (GRCm39) D745E possibly damaging Het
Prss3 A G 6: 41,351,258 (GRCm39) L165P probably damaging Het
Psme4 T A 11: 30,793,532 (GRCm39) I1211N probably damaging Het
Rb1 A G 14: 73,503,023 (GRCm39) V416A probably benign Het
Rnf111 T A 9: 70,383,204 (GRCm39) Q243L probably benign Het
Sacm1l T C 9: 123,377,987 (GRCm39) V89A probably benign Het
Sardh C T 2: 27,125,576 (GRCm39) D313N probably damaging Het
Scin T C 12: 40,129,681 (GRCm39) I371V probably benign Het
Scn10a C A 9: 119,438,462 (GRCm39) L1801F possibly damaging Het
Sele G A 1: 163,879,207 (GRCm39) V281M possibly damaging Het
Slc17a1 C A 13: 24,071,982 (GRCm39) T400K probably damaging Het
Slc22a28 T A 19: 8,108,788 (GRCm39) D118V probably damaging Het
Slc2a10 T A 2: 165,356,671 (GRCm39) F110L probably benign Het
Slc51a A G 16: 32,295,197 (GRCm39) S294P probably damaging Het
Snapc4 T C 2: 26,254,711 (GRCm39) E1271G probably benign Het
Spata31 C A 13: 65,070,065 (GRCm39) Q738K possibly damaging Het
Spdya A G 17: 71,895,587 (GRCm39) D284G probably benign Het
Tdrd5 T C 1: 156,094,832 (GRCm39) D757G possibly damaging Het
Tmem104 T C 11: 115,134,199 (GRCm39) F245S probably damaging Het
Tmem170 A T 8: 112,603,153 (GRCm39) S39T probably benign Het
Trim24 G T 6: 37,892,233 (GRCm39) probably null Het
Uap1 A G 1: 169,978,635 (GRCm39) V302A probably damaging Het
Vmn2r96 A T 17: 18,803,023 (GRCm39) Y311F probably damaging Het
Wdhd1 A T 14: 47,512,252 (GRCm39) D46E possibly damaging Het
Zdbf2 G A 1: 63,342,073 (GRCm39) V151I possibly damaging Het
Zfp747l1 A T 7: 126,983,621 (GRCm39) C494S possibly damaging Het
Zfp943 A G 17: 22,211,763 (GRCm39) Q283R possibly damaging Het
Zfp944 A T 17: 22,558,235 (GRCm39) D337E probably benign Het
Other mutations in Cldn13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Cldn13 APN 5 134,944,114 (GRCm39) missense possibly damaging 0.60
R0330:Cldn13 UTSW 5 134,944,176 (GRCm39) missense probably benign 0.00
R0632:Cldn13 UTSW 5 134,943,601 (GRCm39) missense probably benign 0.01
R5333:Cldn13 UTSW 5 134,943,869 (GRCm39) missense probably benign 0.19
R6459:Cldn13 UTSW 5 134,943,769 (GRCm39) missense possibly damaging 0.64
R7207:Cldn13 UTSW 5 134,943,766 (GRCm39) missense probably benign 0.19
R7320:Cldn13 UTSW 5 134,943,874 (GRCm39) missense probably benign 0.01
R7472:Cldn13 UTSW 5 134,943,975 (GRCm39) missense probably damaging 0.96
R8333:Cldn13 UTSW 5 134,943,850 (GRCm39) missense possibly damaging 0.81
R9510:Cldn13 UTSW 5 134,943,843 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TCAATGCAACGGGGAAAGTC -3'
(R):5'- AGTGTACACTGTATGACACCCG -3'

Sequencing Primer
(F):5'- CTCTGCATACTGGGATGTTGACAC -3'
(R):5'- CTGTATGACACCCGGATACTG -3'
Posted On 2020-09-02