Incidental Mutation 'R3972:Cldn20'
ID 311041
Institutional Source Beutler Lab
Gene Symbol Cldn20
Ensembl Gene ENSMUSG00000091530
Gene Name claudin 20
Synonyms EG621628
MMRRC Submission 040840-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3972 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 3582829-3583484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3582914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 29 (N29S)
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: N29S

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126169
Gene: ENSMUSG00000091530
AA Change: N29S

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T G 17: 72,292,442 (GRCm39) D512A probably benign Het
Avl9 T C 6: 56,720,393 (GRCm39) F477S probably damaging Het
C7 C T 15: 5,037,133 (GRCm39) V582I possibly damaging Het
Coro2b C T 9: 62,336,522 (GRCm39) A251T possibly damaging Het
Dnah3 T A 7: 119,685,943 (GRCm39) D131V probably damaging Het
Dusp12 T C 1: 170,707,344 (GRCm39) K248R probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fgf1 T C 18: 38,980,147 (GRCm39) T76A probably benign Het
Gucy2c C T 6: 136,685,364 (GRCm39) R859K probably damaging Het
Irf2bp1 T A 7: 18,739,369 (GRCm39) D336E possibly damaging Het
Lpar6 A G 14: 73,476,513 (GRCm39) H158R probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Lyst T C 13: 13,881,210 (GRCm39) C2814R possibly damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mrpl16 A G 19: 11,750,239 (GRCm39) N41S probably benign Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nudt9 G T 5: 104,194,991 (GRCm39) C29F probably benign Het
Or4d11 G T 19: 12,013,383 (GRCm39) T241N probably damaging Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Otp T G 13: 95,019,692 (GRCm39) L181R probably damaging Het
Pde4a A G 9: 21,117,513 (GRCm39) T592A probably damaging Het
Pi4ka A G 16: 17,111,739 (GRCm39) Y1579H probably damaging Het
Rb1cc1 T C 1: 6,319,224 (GRCm39) V864A probably benign Het
Reln A T 5: 22,183,999 (GRCm39) F1667I probably damaging Het
Serpinb10 T A 1: 107,463,852 (GRCm39) F45I probably damaging Het
Setdb1 A T 3: 95,248,649 (GRCm39) N422K probably damaging Het
Slc17a7 A G 7: 44,819,334 (GRCm39) I137V possibly damaging Het
Tet1 T A 10: 62,649,505 (GRCm39) E67D probably damaging Het
Tpcn1 C A 5: 120,691,817 (GRCm39) probably null Het
Trav9-4 T C 14: 53,913,877 (GRCm39) Y44H possibly damaging Het
Trmt1l A G 1: 151,309,634 (GRCm39) N106D possibly damaging Het
Ttll12 A T 15: 83,466,297 (GRCm39) L388Q probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubfd1 T G 7: 121,666,656 (GRCm39) S51A probably benign Het
Uckl1 T C 2: 181,216,256 (GRCm39) D148G probably damaging Het
Usp34 T C 11: 23,407,803 (GRCm39) L2571S probably damaging Het
Wdr75 T C 1: 45,861,714 (GRCm39) V718A probably benign Het
Zfp266 A G 9: 20,411,446 (GRCm39) S244P probably damaging Het
Zfp979 G A 4: 147,702,876 (GRCm39) Q25* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TATGTGGGTCTCAGCTGCAC -3'
(R):5'- CAGTTCATTCCTGCTATCGAAGTAC -3'

Sequencing Primer
(F):5'- GGTCTCAGCTGCACAGAAATAGC -3'
(R):5'- TTCCTGCTATCGAAGTACAAATCC -3'
Posted On 2015-04-29