Incidental Mutation 'R7684:Cldn8'
ID 592965
Institutional Source Beutler Lab
Gene Symbol Cldn8
Ensembl Gene ENSMUSG00000050520
Gene Name claudin 8
Synonyms
MMRRC Submission 067780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R7684 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 88357716-88360071 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88359335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 197 (Y197H)
Ref Sequence ENSEMBL: ENSMUSP00000051887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049697]
AlphaFold Q9Z260
Predicted Effect probably damaging
Transcript: ENSMUST00000049697
AA Change: Y197H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520
AA Change: Y197H

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.9e-32 PFAM
Pfam:Claudin_2 15 184 5.6e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: This intronless 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 paracellular cation barrier. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,659 (GRCm39) K1239* probably null Het
Abhd6 T C 14: 8,039,807 (GRCm38) F60S probably damaging Het
Adam6b G A 12: 113,455,196 (GRCm39) W671* probably null Het
Ankrd36 A G 11: 5,520,113 (GRCm39) T63A possibly damaging Het
Arhgef16 A G 4: 154,366,285 (GRCm39) V494A possibly damaging Het
Arhgef7 T A 8: 11,869,663 (GRCm39) M659K probably benign Het
Cacna1h A G 17: 25,608,346 (GRCm39) Y854H probably damaging Het
Chd3 A T 11: 69,248,692 (GRCm39) F780I possibly damaging Het
Cpne8 A T 15: 90,533,450 (GRCm39) D58E probably damaging Het
Cul9 T G 17: 46,820,815 (GRCm39) Y1954S probably damaging Het
Cyp4a10 T A 4: 115,375,549 (GRCm39) F11I probably benign Het
Cysrt1 A T 2: 25,129,094 (GRCm39) C139* probably null Het
Dnajc16 A G 4: 141,501,879 (GRCm39) V317A probably benign Het
Dnmt3a T C 12: 3,947,340 (GRCm39) V437A probably benign Het
Dok5 T C 2: 170,683,344 (GRCm39) C202R probably damaging Het
Dusp11 T A 6: 85,927,542 (GRCm39) R164S probably damaging Het
Dysf T C 6: 84,077,117 (GRCm39) S648P probably benign Het
Egfem1 A T 3: 29,744,334 (GRCm39) R581S probably damaging Het
Enpep A G 3: 129,115,094 (GRCm39) F226S probably damaging Het
Ep400 A G 5: 110,845,218 (GRCm39) I1541T unknown Het
Exd1 A G 2: 119,350,684 (GRCm39) S526P probably damaging Het
Fam118a A G 15: 84,942,982 (GRCm39) E337G possibly damaging Het
Fam20b T C 1: 156,518,215 (GRCm39) N193S probably benign Het
Fat3 A G 9: 15,899,564 (GRCm39) probably null Het
Flg2 T C 3: 93,126,956 (GRCm39) V1956A unknown Het
Fzd10 A G 5: 128,678,480 (GRCm39) I67V possibly damaging Het
Gckr A T 5: 31,465,141 (GRCm39) D370V probably damaging Het
Gm8797 A T 3: 5,816,148 (GRCm39) Q62L probably benign Het
H6pd G T 4: 150,080,519 (GRCm39) Q109K probably benign Het
Higd1a T C 9: 121,679,322 (GRCm39) K55R possibly damaging Het
Il1b C T 2: 129,209,277 (GRCm39) V118I probably benign Het
Insr T C 8: 3,219,753 (GRCm39) N923S possibly damaging Het
Krit1 A G 5: 3,880,723 (GRCm39) I561V possibly damaging Het
Lamc2 T C 1: 153,002,771 (GRCm39) D1070G probably null Het
Lpcat2 T A 8: 93,635,823 (GRCm39) D408E possibly damaging Het
Mst1r T A 9: 107,788,762 (GRCm39) F427Y probably benign Het
Mtx1 A T 3: 89,117,739 (GRCm39) I258K possibly damaging Het
Nckap5 T C 1: 125,954,594 (GRCm39) T653A probably benign Het
Npas3 A T 12: 54,115,609 (GRCm39) N844Y probably damaging Het
Nrg3 A T 14: 39,194,522 (GRCm39) L79Q probably damaging Het
Nsmce1 C A 7: 125,070,348 (GRCm39) K154N probably damaging Het
Oard1 T C 17: 48,723,726 (GRCm39) L124P probably damaging Het
Or10ag57 T C 2: 87,218,372 (GRCm39) S108P probably damaging Het
Or10ak13 T C 4: 118,639,471 (GRCm39) M104V probably benign Het
Or51a10 G A 7: 103,698,667 (GRCm39) T298I probably damaging Het
Or51ah3 T C 7: 103,210,425 (GRCm39) F247S probably benign Het
Ovgp1 A T 3: 105,887,272 (GRCm39) T223S probably damaging Het
Pik3c2a A T 7: 115,987,312 (GRCm39) Y536* probably null Het
Plekho2 A T 9: 65,466,816 (GRCm39) probably null Het
Prelid3b T C 2: 174,310,210 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rxfp1 T A 3: 79,578,214 (GRCm39) N159I possibly damaging Het
Sfmbt1 A G 14: 30,532,311 (GRCm39) Q557R probably damaging Het
Slc22a18 G T 7: 143,044,577 (GRCm39) V177L probably benign Het
Slc22a8 A G 19: 8,587,294 (GRCm39) I451M probably benign Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Snx20 T C 8: 89,353,863 (GRCm39) D289G probably benign Het
Sptb A G 12: 76,658,969 (GRCm39) Y1189H probably benign Het
Tbc1d1 T A 5: 64,473,829 (GRCm39) M784K probably benign Het
Tbkbp1 T C 11: 97,038,559 (GRCm39) probably benign Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Thy1 G A 9: 43,957,855 (GRCm39) G13D unknown Het
Ticam1 A G 17: 56,576,984 (GRCm39) S704P unknown Het
Tmem151b A G 17: 45,857,929 (GRCm39) Y106H probably damaging Het
Trappc8 T C 18: 20,996,559 (GRCm39) N452S probably benign Het
Ttc9c A G 19: 8,789,128 (GRCm39) Y166H probably damaging Het
Txndc16 A G 14: 45,385,325 (GRCm39) V556A possibly damaging Het
Tyrp1 C A 4: 80,758,862 (GRCm39) S245Y probably damaging Het
Urb1 A T 16: 90,583,006 (GRCm39) L621* probably null Het
Wdr72 A T 9: 74,054,292 (GRCm39) T224S probably damaging Het
Zc3h18 T G 8: 123,134,165 (GRCm39) S544A unknown Het
Zfp462 T A 4: 55,008,908 (GRCm39) N291K probably benign Het
Zfp609 T C 9: 65,638,362 (GRCm39) N290S possibly damaging Het
Zfp979 A T 4: 147,697,799 (GRCm39) H303Q probably damaging Het
Other mutations in Cldn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02888:Cldn8 APN 16 88,359,271 (GRCm39) missense probably benign 0.00
R0038:Cldn8 UTSW 16 88,359,922 (GRCm39) start codon destroyed probably null 1.00
R0038:Cldn8 UTSW 16 88,359,922 (GRCm39) start codon destroyed probably null 1.00
R0332:Cldn8 UTSW 16 88,359,246 (GRCm39) synonymous silent
R0690:Cldn8 UTSW 16 88,359,527 (GRCm39) missense probably damaging 1.00
R1496:Cldn8 UTSW 16 88,359,289 (GRCm39) missense probably benign
R1832:Cldn8 UTSW 16 88,359,746 (GRCm39) missense probably benign 0.07
R3052:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R3053:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4428:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4429:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4430:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4431:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4465:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4485:Cldn8 UTSW 16 88,359,619 (GRCm39) missense probably damaging 1.00
R4659:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4660:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4662:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4679:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R4741:Cldn8 UTSW 16 88,359,296 (GRCm39) missense probably benign
R6591:Cldn8 UTSW 16 88,359,423 (GRCm39) missense possibly damaging 0.73
R6691:Cldn8 UTSW 16 88,359,423 (GRCm39) missense possibly damaging 0.73
R7959:Cldn8 UTSW 16 88,359,829 (GRCm39) missense probably damaging 1.00
R8987:Cldn8 UTSW 16 88,359,733 (GRCm39) missense probably damaging 1.00
R9065:Cldn8 UTSW 16 88,359,902 (GRCm39) missense probably benign
R9756:Cldn8 UTSW 16 88,359,917 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- ACAGTGTGGGCTCCATTTCTC -3'
(R):5'- ACAGCCGGAATCATCTTCTTCATC -3'

Sequencing Primer
(F):5'- GGGCTCCATTTCTCTAAAATAGTGGC -3'
(R):5'- CTGTCAGCTGGGTTGCCAATTC -3'
Posted On 2019-11-12