Incidental Mutation 'R1687:Cldn9'
ID 189458
Institutional Source Beutler Lab
Gene Symbol Cldn9
Ensembl Gene ENSMUSG00000066720
Gene Name claudin 9
Synonyms nmf329
MMRRC Submission 039720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R1687 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 23682584-23684018 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23683076 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 192 (R192S)
Ref Sequence ENSEMBL: ENSMUSP00000093236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024699] [ENSMUST00000085989]
AlphaFold Q9Z0S7
Predicted Effect probably benign
Transcript: ENSMUST00000024699
SMART Domains Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906

Pfam:PMP22_Claudin 4 181 2.5e-35 PFAM
Pfam:Claudin_2 15 183 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085989
AA Change: R192S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093236
Gene: ENSMUSG00000066720
AA Change: R192S

Pfam:PMP22_Claudin 4 181 9.7e-35 PFAM
Pfam:Claudin_2 15 183 8.1e-12 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: This intronless 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 developmentally regulated; it is expressed in neonate kidney, but disappers by adulthood. It is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit severe and early hearing loss associated with degeneration of outer hair cells and increased perilymph potassium ion concentration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,293,888 (GRCm38) F931I probably benign Het
Alox15 T A 11: 70,349,918 (GRCm38) H212L probably benign Het
Arhgap42 A T 9: 9,035,537 (GRCm38) V268D probably benign Het
Armc9 A G 1: 86,156,955 (GRCm38) M1V probably null Het
BB287469 A G 12: 87,819,718 (GRCm38) D133G unknown Het
Brca1 C T 11: 101,489,840 (GRCm38) C1789Y probably benign Het
Cacng4 A G 11: 107,736,759 (GRCm38) V138A probably benign Het
Camsap1 A G 2: 25,939,615 (GRCm38) F699S probably damaging Het
Ccm2 A G 11: 6,585,118 (GRCm38) R67G probably damaging Het
Cdk16 G A X: 20,696,659 (GRCm38) probably null Het
Cep85 T C 4: 134,148,013 (GRCm38) H546R probably benign Het
Cfap54 T C 10: 92,932,640 (GRCm38) D207G probably damaging Het
Crybb3 A G 5: 113,079,767 (GRCm38) S63P probably damaging Het
Cux1 A G 5: 136,312,669 (GRCm38) L615P probably damaging Het
Dctn3 A G 4: 41,715,407 (GRCm38) Y154H probably damaging Het
Dnah3 A T 7: 120,045,786 (GRCm38) probably null Het
Eml6 G A 11: 29,833,187 (GRCm38) H565Y probably damaging Het
Ephb6 T C 6: 41,617,366 (GRCm38) V610A probably benign Het
Fam234a T C 17: 26,215,308 (GRCm38) Y333C probably damaging Het
Fbln1 G A 15: 85,227,106 (GRCm38) V154I probably benign Het
Frem2 A T 3: 53,653,952 (GRCm38) W1045R probably benign Het
Fubp1 A G 3: 152,228,201 (GRCm38) probably benign Het
Gja3 T A 14: 57,036,876 (GRCm38) N13I probably damaging Het
Gpr20 C A 15: 73,695,902 (GRCm38) V213L probably benign Het
Grk5 T C 19: 61,076,783 (GRCm38) I295T probably damaging Het
Gucy1b1 A G 3: 82,038,042 (GRCm38) F430L probably damaging Het
Gzmk T A 13: 113,173,928 (GRCm38) I119L probably benign Het
Hadh T C 3: 131,245,249 (GRCm38) I153V probably benign Het
Hsfy2 T C 1: 56,636,853 (GRCm38) Y175C probably damaging Het
Hspa5 T C 2: 34,775,824 (GRCm38) I560T probably benign Het
Igdcc4 T C 9: 65,131,663 (GRCm38) V863A probably damaging Het
Il22ra2 A G 10: 19,632,872 (GRCm38) D216G probably benign Het
Klc2 G A 19: 5,111,654 (GRCm38) P303S probably damaging Het
Lama5 C T 2: 180,194,066 (GRCm38) V1192I probably benign Het
Mon2 A G 10: 123,026,124 (GRCm38) S772P probably damaging Het
Mphosph8 T A 14: 56,672,478 (GRCm38) L96Q probably damaging Het
Mzf1 C A 7: 13,052,771 (GRCm38) R124L possibly damaging Het
Nckap1 A G 2: 80,520,585 (GRCm38) I726T probably damaging Het
Ndnf A T 6: 65,703,423 (GRCm38) T229S probably benign Het
Npas3 A T 12: 54,048,875 (GRCm38) probably null Het
Nrap C T 19: 56,355,529 (GRCm38) E729K probably damaging Het
Nsun2 T A 13: 69,627,597 (GRCm38) F387I probably damaging Het
Olfr743 T C 14: 50,533,702 (GRCm38) S97P possibly damaging Het
Pabpc1l C T 2: 164,044,306 (GRCm38) T452M probably benign Het
Pcdh10 T C 3: 45,380,015 (GRCm38) Y255H probably damaging Het
Pdcd6ip A T 9: 113,700,019 (GRCm38) Y72N probably damaging Het
Pglyrp1 A T 7: 18,884,704 (GRCm38) probably benign Het
Pkp2 T C 16: 16,268,709 (GRCm38) probably null Het
Ppard A G 17: 28,297,180 (GRCm38) Y126C probably damaging Het
Prkcq T C 2: 11,290,533 (GRCm38) Y598H probably damaging Het
Rhobtb1 A G 10: 69,270,279 (GRCm38) T287A probably damaging Het
Sema4b T C 7: 80,219,262 (GRCm38) Y361H probably damaging Het
Slfn9 A T 11: 82,982,157 (GRCm38) I640N probably damaging Het
Smurf2 C A 11: 106,836,070 (GRCm38) probably null Het
Spag5 T C 11: 78,304,929 (GRCm38) V354A probably benign Het
Sptb T C 12: 76,603,699 (GRCm38) D1748G possibly damaging Het
St6galnac5 C A 3: 152,981,250 (GRCm38) L22F probably benign Het
Sugp2 T C 8: 70,242,634 (GRCm38) S86P probably damaging Het
Tnk1 T C 11: 69,856,473 (GRCm38) I111V possibly damaging Het
Tnni3k T A 3: 154,939,626 (GRCm38) I541F possibly damaging Het
Trim36 G T 18: 46,188,657 (GRCm38) H108N possibly damaging Het
Ttn T C 2: 76,870,907 (GRCm38) probably benign Het
Usp28 T A 9: 49,024,017 (GRCm38) S89R probably benign Het
Vmn2r121 T C X: 124,132,791 (GRCm38) D223G probably benign Het
Vmn2r65 T A 7: 84,940,818 (GRCm38) Y630F probably benign Het
Washc2 T A 6: 116,256,712 (GRCm38) S900T probably benign Het
Wdr72 A G 9: 74,210,199 (GRCm38) N731S probably benign Het
Xrra1 T A 7: 99,876,244 (GRCm38) F123L probably damaging Het
Zfp648 A G 1: 154,204,242 (GRCm38) D49G probably benign Het
Other mutations in Cldn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4195:Cldn9 UTSW 17 23,683,174 (GRCm38) missense probably damaging 1.00
R5710:Cldn9 UTSW 17 23,683,447 (GRCm38) missense probably damaging 1.00
R6676:Cldn9 UTSW 17 23,683,049 (GRCm38) missense probably benign 0.00
R7007:Cldn9 UTSW 17 23,683,078 (GRCm38) missense probably benign
R7336:Cldn9 UTSW 17 23,683,015 (GRCm38) missense probably benign 0.27
R9456:Cldn9 UTSW 17 23,683,582 (GRCm38) missense probably damaging 0.99
Z1177:Cldn9 UTSW 17 23,683,201 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-14