Incidental Mutation 'R7320:Cldn13'
ID 568125
Institutional Source Beutler Lab
Gene Symbol Cldn13
Ensembl Gene ENSMUSG00000008843
Gene Name claudin 13
MMRRC Submission 045370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 134914249-134915526 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 134915020 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 104 (I104L)
Ref Sequence ENSEMBL: ENSMUSP00000008987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008987]
AlphaFold Q9Z0S4
Predicted Effect probably benign
Transcript: ENSMUST00000008987
AA Change: I104L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000008987
Gene: ENSMUSG00000008843
AA Change: I104L

Pfam:PMP22_Claudin 6 180 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik T A 3: 108,464,303 (GRCm38) K650* probably null Het
Abcc3 A G 11: 94,367,645 (GRCm38) I458T probably benign Het
Adam29 A G 8: 55,872,714 (GRCm38) I235T possibly damaging Het
AF529169 A G 9: 89,601,626 (GRCm38) S573P probably benign Het
Afap1 G A 5: 35,948,223 (GRCm38) V174I probably damaging Het
Ak8 A T 2: 28,812,992 (GRCm38) D456V probably damaging Het
Alb T C 5: 90,464,987 (GRCm38) probably null Het
Alox12 C T 11: 70,254,472 (GRCm38) A92T probably benign Het
Arhgap23 T C 11: 97,451,545 (GRCm38) S218P probably benign Het
Blm G A 7: 80,455,354 (GRCm38) Q1389* probably null Het
C1ql4 A T 15: 99,087,724 (GRCm38) V2E unknown Het
Casp12 A G 9: 5,348,897 (GRCm38) probably null Het
Ccdc73 A T 2: 104,999,176 (GRCm38) I1065F possibly damaging Het
Ccdc83 C T 7: 90,224,034 (GRCm38) G371D probably damaging Het
Cfap65 A G 1: 74,926,604 (GRCm38) S416P probably damaging Het
Cftr T A 6: 18,319,013 (GRCm38) C1351S probably damaging Het
Clcn4 A T 7: 7,291,828 (GRCm38) H311Q probably benign Het
Cul9 A G 17: 46,510,909 (GRCm38) V1880A possibly damaging Het
Ddx17 A T 15: 79,531,904 (GRCm38) D407E probably damaging Het
Ddx28 G A 8: 106,011,325 (GRCm38) P34S probably damaging Het
Dnah5 A T 15: 28,270,470 (GRCm38) N973Y probably null Het
Dock10 A G 1: 80,549,704 (GRCm38) probably null Het
Dock3 T C 9: 106,895,524 (GRCm38) D510G probably benign Het
Dst T A 1: 34,191,094 (GRCm38) D2589E probably benign Het
E2f7 T C 10: 110,764,130 (GRCm38) Y249H not run Het
Eef2kmt T C 16: 5,250,509 (GRCm38) Y69C possibly damaging Het
Erlin1 T C 19: 44,059,065 (GRCm38) Y139C probably damaging Het
Exog G T 9: 119,462,478 (GRCm38) V274L possibly damaging Het
Fam83e G A 7: 45,722,472 (GRCm38) V98M probably benign Het
Fras1 C T 5: 96,709,886 (GRCm38) T2013I probably benign Het
Gart G T 16: 91,621,681 (GRCm38) A970E probably benign Het
Gga2 T A 7: 122,002,103 (GRCm38) H259L probably benign Het
Glis3 C A 19: 28,531,598 (GRCm38) V329F probably damaging Het
Gm6356 T A 14: 6,972,923 (GRCm38) N53I probably damaging Het
Golgb1 C A 16: 36,915,951 (GRCm38) C1894* probably null Het
Ifi203 T C 1: 173,929,167 (GRCm38) N350S unknown Het
Isy1 T A 6: 87,833,706 (GRCm38) R55S unknown Het
Itsn1 A T 16: 91,839,699 (GRCm38) D678V unknown Het
Lhcgr T A 17: 88,742,078 (GRCm38) R673S probably benign Het
Lnx2 C A 5: 147,020,133 (GRCm38) R601L possibly damaging Het
Map4 A G 9: 110,081,517 (GRCm38) T1093A probably benign Het
Mink1 A G 11: 70,599,073 (GRCm38) K92E probably benign Het
Moxd1 A G 10: 24,301,465 (GRCm38) I560V probably benign Het
Mrc2 C A 11: 105,329,235 (GRCm38) D327E possibly damaging Het
Notch2 A G 3: 98,131,327 (GRCm38) E1262G possibly damaging Het
Olfr1025-ps1 A T 2: 85,918,374 (GRCm38) I150F probably benign Het
Olfr1052 GTACTTTTT GT 2: 86,297,994 (GRCm38) probably null Het
Olfr123 T A 17: 37,796,357 (GRCm38) N304K probably benign Het
Olfr1298 A G 2: 111,645,952 (GRCm38) L15S probably benign Het
Olfr1434 G A 19: 12,283,816 (GRCm38) G256D possibly damaging Het
Olfr1477 T A 19: 13,503,180 (GRCm38) M279K possibly damaging Het
Olfr653 C A 7: 104,580,438 (GRCm38) S264* probably null Het
Olfr785 A T 10: 129,409,785 (GRCm38) T140S possibly damaging Het
Pcbp2 T A 15: 102,473,347 (GRCm38) V5E probably damaging Het
Pcp4l1 G A 1: 171,174,465 (GRCm38) A42V possibly damaging Het
Pgghg A T 7: 140,943,040 (GRCm38) Y104F probably benign Het
Plscr2 T C 9: 92,291,140 (GRCm38) probably null Het
Ppfibp1 C T 6: 146,978,053 (GRCm38) A25V probably damaging Het
Ptgfr C T 3: 151,835,397 (GRCm38) G158D probably benign Het
Ptgs2 T C 1: 150,102,695 (GRCm38) F186S probably damaging Het
Ptpn14 A G 1: 189,832,759 (GRCm38) E181G probably benign Het
Rpgrip1 A G 14: 52,131,216 (GRCm38) K291E possibly damaging Het
Rtn4rl1 T C 11: 75,194,296 (GRCm38) probably null Het
Sema3b T A 9: 107,600,942 (GRCm38) M415L probably benign Het
Sh3bp4 A G 1: 89,145,494 (GRCm38) E688G probably damaging Het
Slco6c1 G A 1: 97,128,162 (GRCm38) R5C possibly damaging Het
Slmap A G 14: 26,460,072 (GRCm38) F369L possibly damaging Het
Sphk2 T C 7: 45,712,470 (GRCm38) N181S possibly damaging Het
Sqor A G 2: 122,799,810 (GRCm38) T235A probably benign Het
St13 A G 15: 81,389,653 (GRCm38) L80P probably damaging Het
St3gal6 A G 16: 58,493,711 (GRCm38) Y20H probably benign Het
Sun1 T G 5: 139,248,484 (GRCm38) Y899D probably damaging Het
Synm C T 7: 67,735,380 (GRCm38) E845K possibly damaging Het
Tg A T 15: 66,694,784 (GRCm38) D1227V possibly damaging Het
Thbs1 A G 2: 118,114,957 (GRCm38) N306D possibly damaging Het
Tmcc3 A T 10: 94,578,495 (GRCm38) N51Y possibly damaging Het
Usp4 A G 9: 108,388,306 (GRCm38) D856G probably benign Het
Vil1 G A 1: 74,418,444 (GRCm38) A79T probably damaging Het
Vmn1r119 T A 7: 21,012,346 (GRCm38) H37L probably damaging Het
Vmn2r110 A T 17: 20,596,054 (GRCm38) M69K probably benign Het
Wdr78 A T 4: 103,050,187 (GRCm38) I634N possibly damaging Het
Ywhaq A G 12: 21,394,981 (GRCm38) L221P probably damaging Het
Zfp142 G A 1: 74,570,008 (GRCm38) Q1543* probably null Het
Zfp384 T A 6: 125,024,830 (GRCm38) M146K possibly damaging Het
Other mutations in Cldn13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Cldn13 APN 5 134,915,260 (GRCm38) missense possibly damaging 0.60
R0330:Cldn13 UTSW 5 134,915,322 (GRCm38) missense probably benign 0.00
R0632:Cldn13 UTSW 5 134,914,747 (GRCm38) missense probably benign 0.01
R5333:Cldn13 UTSW 5 134,915,015 (GRCm38) missense probably benign 0.19
R6459:Cldn13 UTSW 5 134,914,915 (GRCm38) missense possibly damaging 0.64
R7207:Cldn13 UTSW 5 134,914,912 (GRCm38) missense probably benign 0.19
R7472:Cldn13 UTSW 5 134,915,121 (GRCm38) missense probably damaging 0.96
R8323:Cldn13 UTSW 5 134,914,974 (GRCm38) missense probably benign 0.02
R8333:Cldn13 UTSW 5 134,914,996 (GRCm38) missense possibly damaging 0.81
R9510:Cldn13 UTSW 5 134,914,989 (GRCm38) missense probably benign 0.25
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-26