Incidental Mutation 'IGL03175:Cldn20'
ID 411983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cldn20
Ensembl Gene ENSMUSG00000091530
Gene Name claudin 20
Synonyms EG621628
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03175
Quality Score
Status
Chromosome 17
Chromosomal Location 3582829-3583484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3583409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 194 (I194T)
Ref Sequence ENSEMBL: ENSMUSP00000126169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000168560] [ENSMUST00000227405]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041003
SMART Domains Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983

DomainStartEndE-ValueType
rADc 43 234 5.56e-69 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168560
AA Change: I194T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126169
Gene: ENSMUSG00000091530
AA Change: I194T

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 8.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232647
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. The protein encoded by this gene is identified in retinal pigment epithelium (RPE) and analysis of the RPE transcriptome reveals that this gene expression appears late during development of chick embryo. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T C 12: 84,122,103 (GRCm39) L229P probably damaging Het
Adamts20 C T 15: 94,171,136 (GRCm39) W1862* probably null Het
Adgrg6 A G 10: 14,315,502 (GRCm39) S601P probably benign Het
Bpifb3 T C 2: 153,761,568 (GRCm39) Y6H unknown Het
Calr3 A G 8: 73,197,449 (GRCm39) F27L probably damaging Het
Ckap2l T C 2: 129,127,437 (GRCm39) Q247R probably benign Het
Col22a1 G A 15: 71,840,952 (GRCm39) P468S possibly damaging Het
Cyp2c54 T A 19: 40,058,672 (GRCm39) E253D probably benign Het
Efemp1 A T 11: 28,876,259 (GRCm39) T475S probably benign Het
Fam98b A G 2: 117,089,719 (GRCm39) S79G probably benign Het
Galnt14 C A 17: 73,829,649 (GRCm39) D299Y probably damaging Het
Hecw2 T C 1: 53,965,416 (GRCm39) E470G possibly damaging Het
Hmmr T C 11: 40,605,636 (GRCm39) M318V probably benign Het
Il17rd T A 14: 26,821,963 (GRCm39) I419K probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Nlrp4f A G 13: 65,342,410 (GRCm39) F412L probably damaging Het
Or5p4 C A 7: 107,680,925 (GRCm39) T308K probably benign Het
Sel1l3 A G 5: 53,279,199 (GRCm39) Y955H probably damaging Het
Slc4a10 A G 2: 62,127,304 (GRCm39) I916V probably damaging Het
Smg9 A G 7: 24,121,730 (GRCm39) H497R probably damaging Het
Tpp2 T C 1: 44,012,671 (GRCm39) I635T probably benign Het
Usp34 T C 11: 23,438,686 (GRCm39) V3416A probably benign Het
Other mutations in Cldn20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Cldn20 APN 17 3,583,375 (GRCm39) missense probably benign 0.16
R1130:Cldn20 UTSW 17 3,583,243 (GRCm39) missense probably damaging 1.00
R1721:Cldn20 UTSW 17 3,583,157 (GRCm39) missense probably damaging 1.00
R3972:Cldn20 UTSW 17 3,582,914 (GRCm39) missense probably benign 0.26
R4388:Cldn20 UTSW 17 3,583,485 (GRCm39) missense probably benign
R6467:Cldn20 UTSW 17 3,582,992 (GRCm39) missense possibly damaging 0.75
R7384:Cldn20 UTSW 17 3,582,886 (GRCm39) missense probably damaging 1.00
R7578:Cldn20 UTSW 17 3,583,274 (GRCm39) missense probably damaging 0.99
R7661:Cldn20 UTSW 17 3,583,133 (GRCm39) missense possibly damaging 0.93
R7727:Cldn20 UTSW 17 3,583,030 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02