Incidental Mutation 'IGL02064:Cldn10'
ID185565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn10
Ensembl Gene ENSMUSG00000022132
Gene Nameclaudin 10
SynonymsCldn10a, Cldn10b, D14Ertd728e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL02064
Quality Score
Status
Chromosome14
Chromosomal Location118787908-118875489 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118855012 bp
ZygosityHeterozygous
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]
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
4732456N10Rik T C 15: 101,562,653 H58R possibly damaging Het
Acap2 A C 16: 31,127,328 W284G probably damaging Het
Acsf3 T C 8: 122,780,247 L93P possibly damaging Het
Agbl2 G T 2: 90,784,024 probably benign Het
Arap3 C T 18: 37,991,701 G242D probably damaging Het
Asxl3 G A 18: 22,524,344 V1804I possibly damaging Het
BC025446 A G 15: 75,221,656 probably benign Het
Bnc1 C A 7: 81,973,503 V659L probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Car9 A G 4: 43,507,363 E103G probably benign Het
Chrm4 A G 2: 91,927,831 T195A probably damaging Het
Col12a1 G A 9: 79,692,372 S833F probably benign Het
Cryba2 T A 1: 74,890,561 D139V possibly damaging Het
Emp1 T A 6: 135,377,212 M1K probably null Het
Exosc4 C A 15: 76,329,636 A220E probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fryl A G 5: 73,124,769 probably benign Het
Gm8298 T C 3: 59,877,042 L312P probably damaging Het
Grid2 C T 6: 64,063,935 T287I probably benign Het
Grifin C T 5: 140,564,739 A7T probably damaging Het
Gzmg T C 14: 56,157,341 K157E probably benign Het
Kcnq2 A T 2: 181,109,026 I340N probably damaging Het
Klrb1 T A 6: 128,710,637 H98L probably benign Het
Krtap5-2 C A 7: 142,175,731 G71C unknown Het
Krtap7-1 A T 16: 89,508,123 M47K probably benign Het
Lmntd1 T A 6: 145,427,276 probably null Het
Musk A G 4: 58,286,128 N6S possibly damaging Het
Olfr169 A G 16: 19,566,548 C112R probably damaging Het
Olfr33 A G 7: 102,713,601 F271L probably damaging Het
Olfr482 T G 7: 108,095,247 T108P probably benign Het
Olfr682-ps1 A T 7: 105,127,034 F89Y possibly damaging Het
Olfr893 T A 9: 38,209,578 I122N probably damaging Het
Pcdh19 A G X: 133,685,970 M432T probably benign Het
Prdm1 A G 10: 44,441,342 F495S probably damaging Het
Prkar2a T C 9: 108,733,204 Y211H possibly damaging Het
Ralgapa1 C A 12: 55,708,077 G1143V probably damaging Het
Rbbp7 A G X: 162,769,787 probably null Het
Scel C A 14: 103,533,326 H65Q probably damaging Het
Sec24d T C 3: 123,343,814 probably benign Het
Sfswap C A 5: 129,560,796 T839N probably benign Het
Slc15a1 T C 14: 121,462,499 I636V possibly damaging Het
Slc15a1 G T 14: 121,462,474 P644H probably benign Het
Slc6a21 T A 7: 45,286,459 I38N possibly damaging Het
Sucla2 C T 14: 73,579,473 Q218* probably null Het
Tbc1d14 A T 5: 36,507,675 L237* probably null Het
Trpm7 C T 2: 126,797,943 E1578K probably damaging Het
Ttc17 G A 2: 94,330,667 T896I probably damaging Het
Virma A G 4: 11,513,163 D339G possibly damaging Het
Vmn2r54 T A 7: 12,615,606 Y683F probably benign Het
Xrra1 T A 7: 99,914,204 L466Q probably damaging Het
Other mutations in Cldn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Cldn10 APN 14 118873717 splice site probably benign
R0090:Cldn10 UTSW 14 118874200 missense probably damaging 1.00
R1573:Cldn10 UTSW 14 118873668 missense probably benign 0.12
R3712:Cldn10 UTSW 14 118855110 missense probably damaging 1.00
R4897:Cldn10 UTSW 14 118788313 missense possibly damaging 0.88
R4941:Cldn10 UTSW 14 118788313 missense possibly damaging 0.88
R4942:Cldn10 UTSW 14 118788313 missense possibly damaging 0.88
R4943:Cldn10 UTSW 14 118788313 missense possibly damaging 0.88
R4998:Cldn10 UTSW 14 118788313 missense possibly damaging 0.88
R6160:Cldn10 UTSW 14 118861843 missense possibly damaging 0.61
R7205:Cldn10 UTSW 14 118861843 missense possibly damaging 0.61
R7943:Cldn10 UTSW 14 118861859 critical splice donor site probably null
Posted On2014-05-07