Incidental Mutation 'R4428:Cldn8'
ID 328295
Institutional Source Beutler Lab
Gene Symbol Cldn8
Ensembl Gene ENSMUSG00000050520
Gene Name claudin 8
Synonyms
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 88357716-88360071 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88359619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 102 (M102R)
Ref Sequence ENSEMBL: ENSMUSP00000051887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049697]
AlphaFold Q9Z260
Predicted Effect probably damaging
Transcript: ENSMUST00000049697
AA Change: M102R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520
AA Change: M102R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.9e-32 PFAM
Pfam:Claudin_2 15 184 5.6e-10 PFAM
Meta Mutation Damage Score 0.5186 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E 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
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
R7684:Cldn8 UTSW 16 88,359,335 (GRCm39) missense probably damaging 1.00
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'- TTTAGGGCCACATCCACCAG -3'
(R):5'- TGTGACTATCATGCCTCAGTG -3'

Sequencing Primer
(F):5'- CCAGTGGGTTGTAGAAGTCTC -3'
(R):5'- AGAGTGTCTGCCTTCATCGAAAG -3'
Posted On 2015-07-07