Incidental Mutation 'R7482:Cldn7'
ID 579870
Institutional Source Beutler Lab
Gene Symbol Cldn7
Ensembl Gene ENSMUSG00000018569
Gene Name claudin 7
Synonyms
MMRRC Submission 045556-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R7482 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69855605-69858711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69856865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 38 (D38G)
Ref Sequence ENSEMBL: ENSMUSP00000018713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018713] [ENSMUST00000060651] [ENSMUST00000108594] [ENSMUST00000108595] [ENSMUST00000108596] [ENSMUST00000108597] [ENSMUST00000142788] [ENSMUST00000151515]
AlphaFold Q9Z261
Predicted Effect possibly damaging
Transcript: ENSMUST00000018713
AA Change: D38G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018713
Gene: ENSMUSG00000018569
AA Change: D38G

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.3e-53 PFAM
Pfam:Claudin_2 15 184 1.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000060651
AA Change: D38G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090725
Gene: ENSMUSG00000018569
AA Change: D38G

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 83 3.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108594
SMART Domains Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 201 1.1e-12 PFAM
Pfam:Elong_Iki1 205 282 3.8e-10 PFAM
low complexity region 283 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108595
SMART Domains Protein: ENSMUSP00000104236
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 139 9.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108596
SMART Domains Protein: ENSMUSP00000104237
Gene: ENSMUSG00000018569

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 99 1.1e-29 PFAM
Pfam:Claudin_2 1 101 1.4e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108597
AA Change: D38G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104238
Gene: ENSMUSG00000018569
AA Change: D38G

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.5e-53 PFAM
Pfam:Claudin_2 15 184 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127437
Predicted Effect probably benign
Transcript: ENSMUST00000142788
SMART Domains Protein: ENSMUSP00000136063
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 63 1.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151515
SMART Domains Protein: ENSMUSP00000137627
Gene: ENSMUSG00000018569

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 99 5.7e-30 PFAM
Pfam:Claudin_2 1 101 7.3e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (37/37)
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 expressed constitutively in the mammary epithelium throughout development, and might be involved in vesicle trafficking to the basolateral membrane. It is essential for NaCl homeostasis in distal nephrons. The knockout mice lacking this gene showed severe salt wasting, chronic dehydration, and growth retardation, and died within 12 days after birth. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, weight, and length; abnormal potassium, chloride, and sodium ion excretion; chronic dehydration; and postnatal lethality by P12. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G A 13: 111,392,673 (GRCm39) R336H probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ap2a2 C T 7: 141,182,210 (GRCm39) P180S possibly damaging Het
Arfgef2 T C 2: 166,693,199 (GRCm39) probably null Het
Arhgef25 A T 10: 127,021,540 (GRCm39) M226K probably damaging Het
Brd7 T C 8: 89,088,254 (GRCm39) D45G probably damaging Het
Bsn C A 9: 107,990,728 (GRCm39) V1675F probably damaging Het
Chtf18 C A 17: 25,938,963 (GRCm39) R820L possibly damaging Het
Clpb T C 7: 101,435,926 (GRCm39) V615A possibly damaging Het
Cntnap4 T C 8: 113,460,194 (GRCm39) probably null Het
Dchs2 T A 3: 83,156,032 (GRCm39) S798T possibly damaging Het
Ect2l A T 10: 18,044,202 (GRCm39) M311K probably benign Het
Hectd4 T A 5: 121,501,941 (GRCm39) C4225S possibly damaging Het
Hecw2 T C 1: 54,079,629 (GRCm39) H8R probably damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Itgb2l T C 16: 96,228,033 (GRCm39) E490G probably benign Het
Jakmip3 T A 7: 138,627,228 (GRCm39) C411S possibly damaging Het
Klhl24 A G 16: 19,933,405 (GRCm39) T339A possibly damaging Het
Mctp1 A T 13: 76,889,579 (GRCm39) probably null Het
Mlf1 T A 3: 67,300,227 (GRCm39) H81Q probably benign Het
Muc4 T A 16: 32,587,324 (GRCm39) Y652N Het
Myo9b A G 8: 71,795,442 (GRCm39) S804G probably benign Het
Or8b1 T G 9: 38,399,747 (GRCm39) C141G probably damaging Het
Pramel58 T C 5: 94,830,739 (GRCm39) I79T possibly damaging Het
Rab11fip5 T C 6: 85,317,760 (GRCm39) E1043G probably benign Het
Radil A G 5: 142,472,518 (GRCm39) V941A probably benign Het
Senp8 A G 9: 59,644,943 (GRCm39) V71A probably damaging Het
Sh2d4a G A 8: 68,749,328 (GRCm39) A121T probably benign Het
Stx17 A G 4: 48,181,722 (GRCm39) D297G possibly damaging Het
Tas2r105 A T 6: 131,663,972 (GRCm39) M152K probably benign Het
Tlr11 G T 14: 50,600,456 (GRCm39) C814F probably damaging Het
Tsc22d1 T C 14: 76,655,927 (GRCm39) V802A probably benign Het
Vmn1r234 A G 17: 21,449,637 (GRCm39) N184D probably benign Het
Vmn2r114 T C 17: 23,510,468 (GRCm39) K671E probably damaging Het
Vmn2r27 A G 6: 124,201,220 (GRCm39) F246L probably damaging Het
Xpo1 T G 11: 23,232,544 (GRCm39) L355V probably benign Het
Other mutations in Cldn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Cldn7 APN 11 69,857,834 (GRCm39) missense probably benign 0.01
R4890:Cldn7 UTSW 11 69,857,918 (GRCm39) missense probably benign
R5987:Cldn7 UTSW 11 69,858,494 (GRCm39) missense probably benign 0.00
R8145:Cldn7 UTSW 11 69,856,892 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGCTTTACTGTAGGGTCGCC -3'
(R):5'- CTTTTGTCCAGAGAAAGAAGCAGG -3'

Sequencing Primer
(F):5'- GGGCTTTTCAATGGCCAT -3'
(R):5'- TGCTTCGCCCAGGAAAC -3'
Posted On 2019-10-07