Incidental Mutation 'R7824:Cldn6'
ID 602100
Institutional Source Beutler Lab
Gene Symbol Cldn6
Ensembl Gene ENSMUSG00000023906
Gene Name claudin 6
Synonyms
MMRRC Submission 045878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7824 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 23898345-23901417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23900581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 182 (C182S)
Ref Sequence ENSEMBL: ENSMUSP00000024699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024698] [ENSMUST00000024699] [ENSMUST00000085989] [ENSMUST00000167059]
AlphaFold Q9Z262
Predicted Effect probably benign
Transcript: ENSMUST00000024698
SMART Domains Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905

DomainStartEndE-ValueType
Pfam:stn_TNFRSF12A 1 129 4.7e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000024699
AA Change: C182S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906
AA Change: C182S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 2.5e-35 PFAM
Pfam:Claudin_2 15 183 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085989
SMART Domains Protein: ENSMUSP00000093236
Gene: ENSMUSG00000066720

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 9.7e-35 PFAM
Pfam:Claudin_2 15 183 8.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167059
SMART Domains Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905

DomainStartEndE-ValueType
Pfam:stn_TNFRSF12A 1 35 2.9e-13 PFAM
Pfam:stn_TNFRSF12A 32 94 1.1e-33 PFAM
Meta Mutation Damage Score 0.8449 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
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 essential for blastocyst formation in preimplantation mouse embryos, and is invloved in and is crucial for the formation and maintenance of the epidermal permeability barrier. This gene is adjacent to another family member Cldn9 on chromosome 17. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele do not exhibit overt abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,273,275 (GRCm39) R396G probably damaging Het
Arhgap40 A T 2: 158,376,666 (GRCm39) R267S probably damaging Het
Asb5 A C 8: 55,037,827 (GRCm39) H173P Het
Atp6v0a2 A G 5: 124,779,443 (GRCm39) E186G probably damaging Het
Bbs2 A T 8: 94,816,388 (GRCm39) probably null Het
Bub1b T G 2: 118,457,448 (GRCm39) probably null Het
Capn7 A G 14: 31,074,367 (GRCm39) T257A probably benign Het
Chrna6 T C 8: 27,897,392 (GRCm39) I162V probably damaging Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Cysltr2 A G 14: 73,267,203 (GRCm39) I169T probably benign Het
Ddx11 T C 17: 66,437,543 (GRCm39) probably null Het
Efhc1 A T 1: 21,049,685 (GRCm39) Y515F probably damaging Het
Farsb T C 1: 78,445,936 (GRCm39) N148D probably benign Het
Fmnl2 C T 2: 52,963,692 (GRCm39) L275F unknown Het
Gfpt2 T G 11: 49,715,268 (GRCm39) I421R probably damaging Het
Gm8297 A G 14: 16,167,939 (GRCm39) N193S possibly damaging Het
Hic1 C T 11: 75,057,042 (GRCm39) V616M possibly damaging Het
Ica1l T G 1: 60,047,029 (GRCm39) M241L probably benign Het
Ighg3 A T 12: 113,323,426 (GRCm39) D283E Het
Ing1 A G 8: 11,611,814 (GRCm39) E178G probably benign Het
Ism2 A C 12: 87,326,634 (GRCm39) V435G probably damaging Het
Klhdc2 A G 12: 69,354,002 (GRCm39) H271R probably damaging Het
Lama1 T A 17: 68,111,468 (GRCm39) S2240T Het
Lrp2 T A 2: 69,331,883 (GRCm39) E1624V possibly damaging Het
Map3k21 C G 8: 126,637,702 (GRCm39) P96R probably benign Het
Mfge8 G T 7: 78,795,135 (GRCm39) probably null Het
Mical2 T A 7: 112,006,844 (GRCm39) Y588N probably damaging Het
Mrps15 A T 4: 125,945,170 (GRCm39) N119I probably damaging Het
Mybpc2 G A 7: 44,154,284 (GRCm39) probably null Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Odf4 A T 11: 68,812,898 (GRCm39) S253R probably benign Het
Or6c5c A G 10: 129,298,665 (GRCm39) N40S probably damaging Het
Ovch2 A G 7: 107,388,295 (GRCm39) probably null Het
Pax8 A G 2: 24,325,913 (GRCm39) S324P possibly damaging Het
Plau A G 14: 20,892,393 (GRCm39) S393G probably benign Het
Primpol G T 8: 47,039,459 (GRCm39) P387Q probably damaging Het
Prph2 T C 17: 47,221,732 (GRCm39) L37S possibly damaging Het
Rapgefl1 A G 11: 98,741,980 (GRCm39) N648S probably damaging Het
Rin2 T A 2: 145,703,037 (GRCm39) S533T probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Setd6 A T 8: 96,442,866 (GRCm39) H101L probably benign Het
Sez6 T C 11: 77,865,375 (GRCm39) S671P probably damaging Het
Slc22a3 G T 17: 12,683,350 (GRCm39) A171E probably damaging Het
Son T C 16: 91,453,416 (GRCm39) L721S probably damaging Het
Spata31d1b A T 13: 59,865,047 (GRCm39) R732W possibly damaging Het
Speg T A 1: 75,360,661 (GRCm39) probably null Het
Srd5a3 T A 5: 76,302,618 (GRCm39) F328I probably damaging Het
Tbc1d2 C T 4: 46,637,746 (GRCm39) probably null Het
Tfap2b G A 1: 19,304,531 (GRCm39) G447D probably damaging Het
Thoc3 A C 13: 54,611,591 (GRCm39) F232C probably damaging Het
Togaram2 T A 17: 72,011,746 (GRCm39) M476K probably benign Het
Tpgs2 G T 18: 25,262,922 (GRCm39) F232L probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Tube1 A G 10: 39,018,294 (GRCm39) I124V probably benign Het
Ubr5 A T 15: 37,991,566 (GRCm39) H1992Q probably damaging Het
Utrn G A 10: 12,362,354 (GRCm39) R2660C probably damaging Het
Vcan T C 13: 89,836,773 (GRCm39) T2924A probably damaging Het
Vmn2r120 T C 17: 57,832,942 (GRCm39) Y79C probably damaging Het
Vwa8 T C 14: 79,275,587 (GRCm39) V790A probably benign Het
Vwf A G 6: 125,635,778 (GRCm39) K270E Het
Zfp874b A G 13: 67,622,093 (GRCm39) F402L probably benign Het
Other mutations in Cldn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Cldn6 APN 17 23,900,698 (GRCm39) unclassified probably benign
IGL01876:Cldn6 APN 17 23,900,158 (GRCm39) missense probably damaging 0.98
IGL02529:Cldn6 APN 17 23,900,291 (GRCm39) missense probably damaging 0.98
R0681:Cldn6 UTSW 17 23,900,167 (GRCm39) missense probably damaging 1.00
R0853:Cldn6 UTSW 17 23,900,438 (GRCm39) missense probably damaging 0.99
R4133:Cldn6 UTSW 17 23,900,467 (GRCm39) missense probably damaging 1.00
R4366:Cldn6 UTSW 17 23,900,494 (GRCm39) missense probably benign 0.00
R4454:Cldn6 UTSW 17 23,900,060 (GRCm39) splice site probably null
R4780:Cldn6 UTSW 17 23,900,221 (GRCm39) missense probably benign 0.30
R7775:Cldn6 UTSW 17 23,900,581 (GRCm39) missense probably damaging 1.00
R7778:Cldn6 UTSW 17 23,900,581 (GRCm39) missense probably damaging 1.00
R7863:Cldn6 UTSW 17 23,900,096 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACCTGTGTGGAAGATAGGAACTCC -3'
(R):5'- TTGATGGCTCAGCTCAGGTTC -3'

Sequencing Primer
(F):5'- GATAGGAACTCCAAGTCTCGTCTG -3'
(R):5'- AGGTTCCCTGGCTAGCAGAG -3'
Posted On 2019-12-03