Incidental Mutation 'R3052:Cldn8'
ID 265008
Institutional Source Beutler Lab
Gene Symbol Cldn8
Ensembl Gene ENSMUSG00000050520
Gene Name claudin 8
Synonyms
MMRRC Submission 040561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R3052 (G1)
Quality Score 224
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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (38/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Adcy5 T C 16: 35,124,086 (GRCm39) L1255P probably damaging Het
Ampd2 C T 3: 107,993,803 (GRCm39) probably benign Het
Asb18 T A 1: 89,920,707 (GRCm39) H149L probably damaging Het
Atp8b1 T C 18: 64,686,179 (GRCm39) E668G probably benign Het
Axdnd1 T C 1: 156,169,440 (GRCm39) T809A probably damaging Het
B430306N03Rik T C 17: 48,623,938 (GRCm39) S80P probably damaging Het
Banp G A 8: 122,732,426 (GRCm39) probably null Het
Capn2 G A 1: 182,315,337 (GRCm39) T306M probably benign Het
Ccpg1 A T 9: 72,913,150 (GRCm39) S229C probably damaging Het
Cep250 G T 2: 155,832,968 (GRCm39) S1630I probably damaging Het
Ces1g C A 8: 94,061,676 (GRCm39) V77L possibly damaging Het
Col6a3 T A 1: 90,729,852 (GRCm39) H1211L possibly damaging Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Gm10384 A G 15: 36,871,996 (GRCm39) noncoding transcript Het
Gm973 T C 1: 59,672,299 (GRCm39) probably benign Het
Ift88 C T 14: 57,668,025 (GRCm39) P9S probably damaging Het
Mfsd2a A G 4: 122,845,635 (GRCm39) L172P probably damaging Het
Nav3 T A 10: 109,739,613 (GRCm39) I119F probably damaging Het
Nbeal2 T C 9: 110,462,153 (GRCm39) E1428G possibly damaging Het
Or12e7 C A 2: 87,288,247 (GRCm39) T246K probably damaging Het
Phf13 T C 4: 152,076,820 (GRCm39) D124G possibly damaging Het
Ppp3ca T G 3: 136,503,605 (GRCm39) S59R probably benign Het
Rsu1 A G 2: 13,174,946 (GRCm39) probably benign Het
Rttn T C 18: 89,033,370 (GRCm39) probably benign Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Sc5d G T 9: 42,166,866 (GRCm39) N224K probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Tbc1d21 T A 9: 58,270,352 (GRCm39) D141V probably damaging Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Ugt3a1 G T 15: 9,365,374 (GRCm39) W329L probably damaging Het
Unk T C 11: 115,940,949 (GRCm39) Y237H probably benign Het
Vcam1 A C 3: 115,918,079 (GRCm39) probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zc3h12c A T 9: 52,055,356 (GRCm39) L132Q possibly 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
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'- TTTAGGGCCACATCCACCAG -3'
(R):5'- GACTATCATGCCTCAGTGGAGAG -3'

Sequencing Primer
(F):5'- CCAGTGGGTTGTAGAAGTCTC -3'
(R):5'- AGAGTGTCTGCCTTCATCGAAAG -3'
Posted On 2015-02-05