Incidental Mutation 'R5711:Cldn1'
ID 452236
Institutional Source Beutler Lab
Gene Symbol Cldn1
Ensembl Gene ENSMUSG00000022512
Gene Name claudin 1
Synonyms
MMRRC Submission 043185-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5711 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 26175395-26190589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26190167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 70 (L70F)
Ref Sequence ENSEMBL: ENSMUSP00000023154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023154]
AlphaFold O88551
Predicted Effect probably damaging
Transcript: ENSMUST00000023154
AA Change: L70F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023154
Gene: ENSMUSG00000022512
AA Change: L70F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2e-54 PFAM
Pfam:Claudin_2 15 184 4.4e-10 PFAM
low complexity region 187 205 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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 knockout mice lacking this gene die soon after birth as a consequence of dehydration from trandermal water loss, indicating that this gene is indispensable for creating and maintaining the epidermal barrier. The protein encoded by this gene also has gastric tumor suppressive activity, and is a key factor for hepatitis C virus (HCV) entry. [provided by RefSeq, Aug 2010]
PHENOTYPE: Animals homozygous for a mutation in this gene have wrinkled skin and die within 1 day after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak6 A T 13: 100,790,722 (GRCm39) T18S probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap19 A G 19: 41,773,227 (GRCm39) V275A possibly damaging Het
Cebpz T A 17: 79,242,040 (GRCm39) Q538L probably damaging Het
Chgb A T 2: 132,634,618 (GRCm39) I187F probably benign Het
Crybg2 A T 4: 133,809,938 (GRCm39) D1230V probably damaging Het
Csmd1 C T 8: 16,003,703 (GRCm39) C2617Y probably damaging Het
D7Ertd443e T A 7: 133,951,110 (GRCm39) N188Y probably benign Het
Ddx51 A G 5: 110,802,790 (GRCm39) I214M probably benign Het
Dlg5 A G 14: 24,200,716 (GRCm39) V1328A probably damaging Het
Dnah2 C T 11: 69,326,216 (GRCm39) C3639Y probably damaging Het
Dync1i2 C T 2: 71,081,326 (GRCm39) T511I probably benign Het
Fam220a A T 5: 143,549,212 (GRCm39) E208V probably damaging Het
Gm4846 T C 1: 166,311,594 (GRCm39) S422G probably benign Het
Grin2c C T 11: 115,141,115 (GRCm39) R1001Q probably benign Het
H2-T3 T C 17: 36,498,301 (GRCm39) E248G probably damaging Het
Idi2 T C 13: 9,008,518 (GRCm39) V92A probably benign Het
Iqcd C T 5: 120,740,571 (GRCm39) Q301* probably null Het
Klhl26 T C 8: 70,904,974 (GRCm39) D278G probably damaging Het
Mok G T 12: 110,774,503 (GRCm39) T228K probably damaging Het
Or1e22 A G 11: 73,377,008 (GRCm39) I214T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pabpc1 T C 15: 36,606,074 (GRCm39) I101V probably benign Het
Ppargc1a G T 5: 51,631,562 (GRCm39) Q356K probably damaging Het
Ptprt T A 2: 161,652,524 (GRCm39) D608V probably damaging Het
Rxfp1 C T 3: 79,586,054 (GRCm39) C96Y probably damaging Het
Scn11a A C 9: 119,618,990 (GRCm39) V784G probably damaging Het
Septin4 T C 11: 87,458,723 (GRCm39) S366P probably benign Het
Slc12a8 A G 16: 33,410,679 (GRCm39) Y226C probably damaging Het
Slc25a33 A G 4: 149,846,914 (GRCm39) V49A possibly damaging Het
Slc25a45 T C 19: 5,934,451 (GRCm39) S140P probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Spty2d1 G T 7: 46,647,845 (GRCm39) N361K possibly damaging Het
Stk4 G A 2: 163,941,674 (GRCm39) A297T probably benign Het
Thsd7b T A 1: 129,688,139 (GRCm39) N683K probably damaging Het
Tln2 T C 9: 67,299,829 (GRCm39) E141G probably benign Het
Tmem125 A T 4: 118,399,216 (GRCm39) C72S probably damaging Het
Ttn G T 2: 76,572,437 (GRCm39) T26152K probably damaging Het
Uhrf1 G A 17: 56,627,259 (GRCm39) G643D possibly damaging Het
Vmn2r50 C T 7: 9,774,299 (GRCm39) M532I possibly damaging Het
Other mutations in Cldn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Cldn1 APN 16 26,190,322 (GRCm39) missense possibly damaging 0.59
IGL02937:Cldn1 APN 16 26,179,623 (GRCm39) missense probably damaging 1.00
R1626:Cldn1 UTSW 16 26,190,202 (GRCm39) missense probably damaging 1.00
R2131:Cldn1 UTSW 16 26,190,300 (GRCm39) missense probably damaging 0.98
R2264:Cldn1 UTSW 16 26,177,949 (GRCm39) missense probably damaging 1.00
R3778:Cldn1 UTSW 16 26,190,216 (GRCm39) missense probably damaging 1.00
R4850:Cldn1 UTSW 16 26,181,913 (GRCm39) missense probably benign 0.04
R5753:Cldn1 UTSW 16 26,181,871 (GRCm39) missense probably benign 0.01
R6017:Cldn1 UTSW 16 26,181,969 (GRCm39) missense probably damaging 1.00
R7134:Cldn1 UTSW 16 26,190,376 (GRCm39) start codon destroyed probably null 0.98
R7199:Cldn1 UTSW 16 26,190,346 (GRCm39) missense probably benign 0.06
R7373:Cldn1 UTSW 16 26,179,606 (GRCm39) missense probably damaging 1.00
R7600:Cldn1 UTSW 16 26,179,669 (GRCm39) missense probably benign
R7675:Cldn1 UTSW 16 26,190,261 (GRCm39) missense probably benign 0.00
R8840:Cldn1 UTSW 16 26,190,286 (GRCm39) missense possibly damaging 0.61
R9489:Cldn1 UTSW 16 26,181,924 (GRCm39) missense probably damaging 1.00
R9508:Cldn1 UTSW 16 26,179,619 (GRCm39) nonsense probably null
R9605:Cldn1 UTSW 16 26,181,924 (GRCm39) missense probably damaging 1.00
Z1177:Cldn1 UTSW 16 26,179,614 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAGGCAAATCTAGGGCTTTAAC -3'
(R):5'- ATCCTGGCTTCTCTGGGATG -3'

Sequencing Primer
(F):5'- CTGCTTTATCAGGACAGAGCACATG -3'
(R):5'- GGATCGGCTCCATCGTCAG -3'
Posted On 2017-01-03