Incidental Mutation 'R4943:Cldn10'
ID 383299
Institutional Source Beutler Lab
Gene Symbol Cldn10
Ensembl Gene ENSMUSG00000022132
Gene Name claudin 10
Synonyms D14Ertd728e, 6720456I16Rik, Cldn10a, Cldn10b
MMRRC Submission 042540-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.651) question?
Stock # R4943 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 119025283-119111937 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119025725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 53 (G53S)
Ref Sequence ENSEMBL: ENSMUSP00000041616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047761] [ENSMUST00000071546]
AlphaFold Q9Z0S6
Predicted Effect possibly damaging
Transcript: ENSMUST00000047761
AA Change: G53S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041616
Gene: ENSMUSG00000022132
AA Change: G53S

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
AA Change: G53S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071476
Gene: ENSMUSG00000022132
AA Change: G53S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 3 167 9e-35 PFAM
Pfam:Claudin_2 13 160 2.4e-10 PFAM
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 99% (81/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,393,446 (GRCm39) T366K possibly damaging Het
2510039O18Rik T A 4: 148,029,555 (GRCm39) H508Q probably damaging Het
Aadacl4fm5 T A 4: 144,504,290 (GRCm39) E287V probably benign Het
Actl9 G A 17: 33,652,059 (GRCm39) V40M possibly damaging Het
Aen T A 7: 78,552,109 (GRCm39) V23E probably damaging Het
Agbl1 G A 7: 76,069,764 (GRCm39) R432K probably benign Het
Akap13 T A 7: 75,398,988 (GRCm39) F2689I probably benign Het
Arhgap45 A G 10: 79,862,337 (GRCm39) S475G probably benign Het
Atg7 A C 6: 114,674,045 (GRCm39) Q231P probably benign Het
Calr3 A T 8: 73,185,221 (GRCm39) V226D probably benign Het
Cops4 A T 5: 100,695,292 (GRCm39) M404L probably benign Het
Cpne4 A T 9: 104,896,972 (GRCm39) H375L probably damaging Het
D16Ertd472e A T 16: 78,372,877 (GRCm39) V20D probably damaging Het
Dcun1d5 T C 9: 7,186,844 (GRCm39) F55L possibly damaging Het
Dhx8 T A 11: 101,628,526 (GRCm39) L93* probably null Het
Dtx4 A G 19: 12,478,424 (GRCm39) L53P probably damaging Het
Ern2 C T 7: 121,772,481 (GRCm39) R659H possibly damaging Het
Etl4 G A 2: 20,812,092 (GRCm39) A1392T probably benign Het
Fat2 T C 11: 55,169,859 (GRCm39) R2967G probably benign Het
Fat4 A G 3: 39,034,322 (GRCm39) D2658G probably benign Het
Ftsj3 A G 11: 106,140,344 (GRCm39) V808A probably damaging Het
Gm10447 A T 11: 53,347,216 (GRCm39) Y104* probably null Het
Gm27013 A T 6: 130,653,163 (GRCm39) C766* probably null Het
Gm5581 A G 6: 131,144,088 (GRCm39) noncoding transcript Het
Gpr158 G A 2: 21,831,968 (GRCm39) V1023I probably damaging Het
Hectd2 T G 19: 36,581,647 (GRCm39) probably null Het
Hmcn2 T C 2: 31,225,504 (GRCm39) Y138H probably damaging Het
Kif28 T C 1: 179,541,516 (GRCm39) I369V probably benign Het
Kif4-ps C T 12: 101,115,476 (GRCm39) noncoding transcript Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Map3k20 G A 2: 72,202,262 (GRCm39) M164I possibly damaging Het
Map4k4 A G 1: 40,058,754 (GRCm39) I1050V probably damaging Het
Med23 T A 10: 24,751,567 (GRCm39) V133D possibly damaging Het
Mycn A T 12: 12,987,080 (GRCm39) L439Q probably damaging Het
Myh2 G T 11: 67,088,143 (GRCm39) A1920S probably damaging Het
Myom3 T C 4: 135,541,585 (GRCm39) V1392A possibly damaging Het
Nktr T A 9: 121,549,020 (GRCm39) probably benign Het
Nme3 A G 17: 25,115,697 (GRCm39) K48E probably damaging Het
Nt5dc1 T C 10: 34,186,387 (GRCm39) R58G probably damaging Het
Nup205 A G 6: 35,201,574 (GRCm39) E1270G probably damaging Het
Or12d16-ps1 G T 17: 37,705,916 (GRCm39) A162S probably benign Het
Or4e2 C G 14: 52,688,051 (GRCm39) Y60* probably null Het
Or51l4 A T 7: 103,404,503 (GRCm39) F96L probably benign Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pclo T C 5: 14,762,651 (GRCm39) L3708P unknown Het
Pde4dip A T 3: 97,662,827 (GRCm39) N590K probably damaging Het
Prokr1 A C 6: 87,558,806 (GRCm39) I193S possibly damaging Het
Pxdc1 C A 13: 34,822,989 (GRCm39) probably null Het
Rapgef2 A T 3: 78,971,854 (GRCm39) S1494T probably benign Het
Rbms3 G C 9: 116,507,573 (GRCm39) probably benign Het
Reep3 T A 10: 66,932,042 (GRCm39) probably benign Het
Rwdd2b T C 16: 87,231,422 (GRCm39) K244R possibly damaging Het
Srrm2 T C 17: 24,041,389 (GRCm39) V2533A possibly damaging Het
Stab2 T C 10: 86,790,026 (GRCm39) Y580C probably damaging Het
Stac2 G T 11: 97,932,398 (GRCm39) S198R probably benign Het
Tdp2 T A 13: 25,022,248 (GRCm39) N222K probably benign Het
Tex21 A G 12: 76,268,474 (GRCm39) S103P probably damaging Het
Thbs1 A T 2: 117,943,930 (GRCm39) I183F probably damaging Het
Tm9sf1 T C 14: 55,878,625 (GRCm39) I256V probably damaging Het
Tmem207 C T 16: 26,336,603 (GRCm39) W50* probably null Het
Trpm2 C A 10: 77,801,841 (GRCm39) V75L probably damaging Het
Vmn1r227 A T 17: 20,955,623 (GRCm39) noncoding transcript Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r75 A T 7: 85,814,705 (GRCm39) S263T probably damaging Het
Wdr64 G A 1: 175,547,882 (GRCm39) V140I probably benign Het
Xpo4 T C 14: 57,875,697 (GRCm39) I145M possibly damaging Het
Zan G A 5: 137,456,152 (GRCm39) T1336I unknown Het
Zdbf2 G T 1: 63,342,073 (GRCm39) V151F possibly damaging Het
Zfhx3 T C 8: 109,674,949 (GRCm39) S2000P probably damaging Het
Zfp65 T A 13: 67,859,099 (GRCm39) I12F probably damaging Het
Zfp703 C A 8: 27,469,619 (GRCm39) Q428K probably benign Het
Zfp947 A C 17: 22,364,813 (GRCm39) M287R probably benign Het
Zfp976 A T 7: 42,261,846 (GRCm39) probably benign Het
Other mutations in Cldn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Cldn10 APN 14 119,111,129 (GRCm39) splice site probably benign
IGL02064:Cldn10 APN 14 119,092,424 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCAGTGTCTGCATGCCTAG -3'
(R):5'- AATGTGGCGCTTTAGCACAC -3'

Sequencing Primer
(F):5'- ACCAAAGCCTTCTGTGTGGAC -3'
(R):5'- CTCGGAGTGAGTAGCCAACTG -3'
Posted On 2016-04-27