Incidental Mutation 'IGL02064:Cldn10'
ID 185565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn10
Ensembl Gene ENSMUSG00000022132
Gene Name claudin 10
Synonyms D14Ertd728e, 6720456I16Rik, Cldn10a, Cldn10b
Accession Numbers
Essential gene? Possibly essential (E-score: 0.651) question?
Stock # IGL02064
Quality Score
Status
Chromosome 14
Chromosomal Location 119025283-119111937 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119092424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 8 (I8T)
Ref Sequence ENSEMBL: ENSMUSP00000097889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047761] [ENSMUST00000071546] [ENSMUST00000100314]
AlphaFold Q9Z0S6
Predicted Effect probably benign
Transcript: ENSMUST00000047761
SMART Domains Protein: ENSMUSP00000041616
Gene: ENSMUSG00000022132

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 3 177 9.2e-44 PFAM
Pfam:Claudin_2 13 179 3.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071546
SMART Domains Protein: ENSMUSP00000071476
Gene: ENSMUSG00000022132

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 3 167 9e-35 PFAM
Pfam:Claudin_2 13 160 2.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100314
AA Change: I8T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097889
Gene: ENSMUSG00000022132
AA Change: I8T

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 179 9.6e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight unction 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. Six alternatively spliced transcript variants have been identified, which encode different isoforms with distinct electric charge of the first extracellular loop and with or without the fourth transmembrane region. These isoforms exhibit distinct localization and function in paracellular anion or cation permeability. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice lacking expression of this gene in the thick ascending limb of renal tubules display nephrocalcinosis, hypermagnesemia, and abnormalities in renal reabsorbtion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Cldn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Cldn10 APN 14 119,111,129 (GRCm39) splice site probably benign
R0090:Cldn10 UTSW 14 119,111,612 (GRCm39) missense probably damaging 1.00
R1573:Cldn10 UTSW 14 119,111,080 (GRCm39) missense probably benign 0.12
R3712:Cldn10 UTSW 14 119,092,522 (GRCm39) missense probably damaging 1.00
R4897:Cldn10 UTSW 14 119,025,725 (GRCm39) missense possibly damaging 0.88
R4941:Cldn10 UTSW 14 119,025,725 (GRCm39) missense possibly damaging 0.88
R4942:Cldn10 UTSW 14 119,025,725 (GRCm39) missense possibly damaging 0.88
R4943:Cldn10 UTSW 14 119,025,725 (GRCm39) missense possibly damaging 0.88
R4998:Cldn10 UTSW 14 119,025,725 (GRCm39) missense possibly damaging 0.88
R6160:Cldn10 UTSW 14 119,099,255 (GRCm39) missense possibly damaging 0.61
R7205:Cldn10 UTSW 14 119,099,255 (GRCm39) missense possibly damaging 0.61
R7943:Cldn10 UTSW 14 119,099,271 (GRCm39) critical splice donor site probably null
R8519:Cldn10 UTSW 14 119,092,439 (GRCm39) missense probably benign 0.01
R8895:Cldn10 UTSW 14 119,092,507 (GRCm39) missense probably damaging 1.00
R9048:Cldn10 UTSW 14 119,025,656 (GRCm39) missense probably damaging 1.00
R9278:Cldn10 UTSW 14 119,111,647 (GRCm39) missense probably damaging 0.96
R9657:Cldn10 UTSW 14 119,025,781 (GRCm39) missense probably benign
R9676:Cldn10 UTSW 14 119,025,677 (GRCm39) missense probably damaging 1.00
R9706:Cldn10 UTSW 14 119,099,189 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07