Incidental Mutation 'IGL02078:Cldn23'
ID 186041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn23
Ensembl Gene ENSMUSG00000055976
Gene Name claudin 23
Synonyms 2310014B08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL02078
Quality Score
Status
Chromosome 8
Chromosomal Location 36291866-36293713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36293359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 43 (V43E)
Ref Sequence ENSEMBL: ENSMUSP00000049725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060128]
AlphaFold Q9D7D7
Predicted Effect possibly damaging
Transcript: ENSMUST00000060128
AA Change: V43E

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: V43E

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 3 177 6e-19 PFAM
low complexity region 273 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210370
Coding Region Coverage
Validation Efficiency
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. This gene is intronless and the protein encoded by this gene is 77% identical to the human homolog. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,179 (GRCm39) D87G probably benign Het
Acap1 C T 11: 69,786,112 (GRCm39) R18Q probably damaging Het
Atp1a1 A C 3: 101,499,179 (GRCm39) V140G probably damaging Het
Bmpr1b G A 3: 141,576,498 (GRCm39) P112S possibly damaging Het
Chst8 T A 7: 34,374,759 (GRCm39) N360I possibly damaging Het
Clta T C 4: 44,030,232 (GRCm39) F168S probably damaging Het
Cyp2c40 T C 19: 39,755,926 (GRCm39) I463V probably benign Het
E2f2 A G 4: 135,920,323 (GRCm39) D436G probably damaging Het
Fbxo24 T G 5: 137,622,611 (GRCm39) T52P probably damaging Het
Gria4 G A 9: 4,793,878 (GRCm39) A60V probably damaging Het
Grm1 C T 10: 10,565,354 (GRCm39) V985M probably benign Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Inf2 T A 12: 112,568,048 (GRCm39) V200E probably damaging Het
Kif20b T A 19: 34,913,044 (GRCm39) V319E probably damaging Het
Klhl10 A G 11: 100,336,577 (GRCm39) D188G probably benign Het
Mobp G A 9: 119,996,980 (GRCm39) R37H probably damaging Het
Mybpc2 T A 7: 44,153,204 (GRCm39) D1086V probably damaging Het
Nadk A C 4: 155,663,860 (GRCm39) probably benign Het
Or7g33 T A 9: 19,448,749 (GRCm39) H159L probably benign Het
Per1 A G 11: 68,995,125 (GRCm39) E619G probably damaging Het
Rab3gap1 G A 1: 127,796,652 (GRCm39) probably benign Het
Rimkla A G 4: 119,325,344 (GRCm39) L355P probably damaging Het
Rnf139 A G 15: 58,771,880 (GRCm39) D635G possibly damaging Het
Sall1 T A 8: 89,757,003 (GRCm39) N1034Y probably damaging Het
Serpinb13 A T 1: 106,926,688 (GRCm39) Q228L probably damaging Het
Sin3b G T 8: 73,480,208 (GRCm39) M903I possibly damaging Het
Slco1a5 A T 6: 142,200,172 (GRCm39) M204K probably benign Het
Smo A G 6: 29,754,707 (GRCm39) D259G possibly damaging Het
Spata31g1 A C 4: 42,972,685 (GRCm39) K673Q possibly damaging Het
Sult2a4 T C 7: 13,723,469 (GRCm39) I15M probably benign Het
Ttn T A 2: 76,772,785 (GRCm39) probably null Het
Wdtc1 C A 4: 133,033,271 (GRCm39) D176Y probably damaging Het
Other mutations in Cldn23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Cldn23 APN 8 36,293,074 (GRCm39) missense possibly damaging 0.81
IGL01767:Cldn23 APN 8 36,292,816 (GRCm39) missense probably damaging 1.00
IGL03346:Cldn23 APN 8 36,292,594 (GRCm39) intron probably benign
R1610:Cldn23 UTSW 8 36,293,084 (GRCm39) missense probably damaging 1.00
R1753:Cldn23 UTSW 8 36,293,140 (GRCm39) missense possibly damaging 0.94
R1915:Cldn23 UTSW 8 36,293,099 (GRCm39) missense possibly damaging 0.69
R2121:Cldn23 UTSW 8 36,293,389 (GRCm39) missense probably benign
R4342:Cldn23 UTSW 8 36,292,652 (GRCm39) missense probably benign 0.00
R5167:Cldn23 UTSW 8 36,293,474 (GRCm39) missense possibly damaging 0.89
R5207:Cldn23 UTSW 8 36,293,182 (GRCm39) missense probably damaging 1.00
R6102:Cldn23 UTSW 8 36,292,705 (GRCm39) missense probably benign 0.00
R7106:Cldn23 UTSW 8 36,293,069 (GRCm39) missense probably benign
R7363:Cldn23 UTSW 8 36,292,659 (GRCm39) critical splice donor site probably null
R7721:Cldn23 UTSW 8 36,293,417 (GRCm39) missense possibly damaging 0.89
R8119:Cldn23 UTSW 8 36,293,056 (GRCm39) missense probably damaging 0.99
R9011:Cldn23 UTSW 8 36,292,826 (GRCm39) missense probably damaging 1.00
R9504:Cldn23 UTSW 8 36,293,470 (GRCm39) missense probably damaging 1.00
Z1176:Cldn23 UTSW 8 36,293,431 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07