Incidental Mutation 'R4388:Cldn20'
ID 326322
Institutional Source Beutler Lab
Gene Symbol Cldn20
Ensembl Gene ENSMUSG00000091530
Gene Name claudin 20
Synonyms EG621628
MMRRC Submission 041125-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4388 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 3582829-3583484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3583485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 219 (M219I)
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: M219I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126169
Gene: ENSMUSG00000091530
AA Change: M219I

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 8.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232647
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 86% (31/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,464,693 (GRCm39) probably null Het
Adgrv1 T C 13: 81,729,828 (GRCm39) T218A probably damaging Het
Aldh1l2 T C 10: 83,349,486 (GRCm39) D254G probably damaging Het
Arpc4 A G 6: 113,362,458 (GRCm39) D36G probably damaging Het
Cd209b A G 8: 3,975,960 (GRCm39) L67P probably damaging Het
Dmxl2 G A 9: 54,303,551 (GRCm39) P2308S probably damaging Het
Fancd2 A G 6: 113,533,329 (GRCm39) I549V probably damaging Het
Galnt2 T C 8: 125,022,192 (GRCm39) probably null Het
Galnt9 A G 5: 110,736,257 (GRCm39) D191G probably damaging Het
Hgf T A 5: 16,819,941 (GRCm39) H557Q probably benign Het
Ifna12 T C 4: 88,521,346 (GRCm39) D67G probably benign Het
Igf1r A G 7: 67,819,757 (GRCm39) I356V probably benign Het
Itih1 A G 14: 30,663,512 (GRCm39) V164A possibly damaging Het
Kcnc1 C A 7: 46,047,126 (GRCm39) R9S possibly damaging Het
Kmt2b A C 7: 30,288,015 (GRCm39) probably benign Het
Kmt2d C T 15: 98,751,507 (GRCm39) probably benign Het
Kng1 T A 16: 22,898,068 (GRCm39) H489Q possibly damaging Het
Larp7-ps A T 4: 92,079,351 (GRCm39) S157T probably benign Het
Map4k5 C A 12: 69,892,583 (GRCm39) M115I probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Naca T C 10: 127,880,661 (GRCm39) S1898P probably damaging Het
Nlrp4e A G 7: 23,000,902 (GRCm39) K66E probably benign Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Pex26 A G 6: 121,161,351 (GRCm39) D43G probably damaging Het
Prr14l A G 5: 32,986,598 (GRCm39) S966P probably damaging Het
Recql4 A G 15: 76,590,158 (GRCm39) S659P probably benign Het
Serpina3n C A 12: 104,377,616 (GRCm39) Q290K probably benign Het
Sft2d1 A G 17: 8,539,469 (GRCm39) K91E possibly damaging Het
Slc25a16 T C 10: 62,764,105 (GRCm39) V54A probably benign Het
Svep1 A G 4: 58,069,249 (GRCm39) Y2846H possibly damaging Het
Ttll2 T A 17: 7,618,599 (GRCm39) R443* probably null Het
Uty A G Y: 1,151,956 (GRCm39) S795P possibly damaging Het
Xrcc5 T A 1: 72,369,189 (GRCm39) S348T possibly damaging Het
Other mutations in Cldn20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Cldn20 APN 17 3,583,375 (GRCm39) missense probably benign 0.16
IGL03175:Cldn20 APN 17 3,583,409 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- GAGCCCTGTACATTGGGTTTATTTC -3'
(R):5'- AGTCAGGCCCTCTTTCAGTTAC -3'

Sequencing Primer
(F):5'- CGGCGATGCTACTACTTATCTCTGG -3'
(R):5'- ATGCAATAATGGGAAAATAAACGC -3'
Posted On 2015-07-06