Incidental Mutation 'R6676:Cldn9'
ID 527296
Institutional Source Beutler Lab
Gene Symbol Cldn9
Ensembl Gene ENSMUSG00000066720
Gene Name claudin 9
Synonyms nmf329
MMRRC Submission 044795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R6676 (G1)
Quality Score 196.009
Status Not validated
Chromosome 17
Chromosomal Location 23901558-23903000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23902023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 201 (S201P)
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

DomainStartEndE-ValueType
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: S201P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000093236
Gene: ENSMUSG00000066720
AA Change: S201P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 181 9.7e-35 PFAM
Pfam:Claudin_2 15 183 8.1e-12 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.3%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 A T 8: 27,601,268 (GRCm39) I303F possibly damaging Het
Clstn2 G T 9: 97,343,584 (GRCm39) P621Q probably damaging Het
Ctdspl2 A G 2: 121,837,445 (GRCm39) N403S probably damaging Het
Cyp2j5 T C 4: 96,524,045 (GRCm39) Y329C possibly damaging Het
Elapor1 A G 3: 108,377,231 (GRCm39) L461P probably damaging Het
Elovl1 A G 4: 118,287,700 (GRCm39) probably benign Het
Fam83a A G 15: 57,856,439 (GRCm39) D206G possibly damaging Het
Fancd2 C T 6: 113,514,626 (GRCm39) Q144* probably null Het
Fhl2 T C 1: 43,170,970 (GRCm39) M115V possibly damaging Het
Fry T A 5: 150,304,387 (GRCm39) D592E probably benign Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Mamdc2 T A 19: 23,280,997 (GRCm39) I684F probably damaging Het
Mia2 T C 12: 59,155,156 (GRCm39) Y290H probably damaging Het
Mup12 C T 4: 60,696,642 (GRCm39) probably null Het
Olr1 T A 6: 129,477,040 (GRCm39) probably null Het
Or51a24 T C 7: 103,733,661 (GRCm39) T209A probably benign Het
Pcdhb15 T C 18: 37,607,860 (GRCm39) V364A possibly damaging Het
Pfkp A G 13: 6,636,575 (GRCm39) S654P possibly damaging Het
Rab3gap2 T G 1: 185,015,607 (GRCm39) V1275G probably damaging Het
Rbbp4 A G 4: 129,222,414 (GRCm39) F93L probably benign Het
Ripk1 T C 13: 34,194,587 (GRCm39) V75A probably damaging Het
Scg2 T A 1: 79,413,499 (GRCm39) Q368L possibly damaging Het
Tmprss9 A G 10: 80,734,145 (GRCm39) probably benign Het
Other mutations in Cldn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1687:Cldn9 UTSW 17 23,902,050 (GRCm39) missense probably benign 0.00
R4195:Cldn9 UTSW 17 23,902,148 (GRCm39) missense probably damaging 1.00
R5710:Cldn9 UTSW 17 23,902,421 (GRCm39) missense probably damaging 1.00
R7007:Cldn9 UTSW 17 23,902,052 (GRCm39) missense probably benign
R7336:Cldn9 UTSW 17 23,901,989 (GRCm39) missense probably benign 0.27
R9456:Cldn9 UTSW 17 23,902,556 (GRCm39) missense probably damaging 0.99
Z1177:Cldn9 UTSW 17 23,902,175 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGATCCCCTAAGAGCCAAGTC -3'
(R):5'- GGCATTTTGGTGCTCATCCC -3'

Sequencing Primer
(F):5'- AGTCCTGGCCAATAAGTGAGCTTC -3'
(R):5'- TGGACAGCCCATGCCATC -3'
Posted On 2018-07-23