Incidental Mutation 'R0332:Cldn8'
ID 37430
Institutional Source Beutler Lab
Gene Symbol Cldn8
Ensembl Gene ENSMUSG00000050520
Gene Name claudin 8
Synonyms
MMRRC Submission 038541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R0332 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 88357716-88360071 bp(-) (GRCm39)
Type of Mutation synonymous
DNA Base Change (assembly) C to T at 88359246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000051887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049697]
AlphaFold Q9Z260
Predicted Effect silent
Transcript: ENSMUST00000049697
SMART Domains Protein: ENSMUSP00000051887
Gene: ENSMUSG00000050520

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.9e-32 PFAM
Pfam:Claudin_2 15 184 5.6e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,268 (GRCm39) probably null Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cstf3 G T 2: 104,476,812 (GRCm39) probably null Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fam228a T A 12: 4,785,018 (GRCm39) I38F probably damaging Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Ints4 T C 7: 97,166,925 (GRCm39) L577P probably damaging Het
Jph4 T C 14: 55,351,467 (GRCm39) E183G possibly damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Or7e178 A G 9: 20,225,352 (GRCm39) L288S probably benign Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Snx2 T C 18: 53,345,983 (GRCm39) F389L probably benign Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L 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
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
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'- AACTGCCACCCGCATCTACTTG -3'
(R):5'- AGAAGCCCTCTACATAGGCTGGAC -3'

Sequencing Primer
(F):5'- AGCCAACAGTCTTTCGATGTG -3'
(R):5'- TCTACATAGGCTGGACCACAG -3'
Posted On 2013-05-10