Incidental Mutation 'R8174:Cldn11'
ID 634223
Institutional Source Beutler Lab
Gene Symbol Cldn11
Ensembl Gene ENSMUSG00000037625
Gene Name claudin 11
Synonyms Otm, Osp, oligodendrocyte-specific protein
MMRRC Submission 067599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R8174 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 31204069-31218473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31208210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 125 (V125A)
Ref Sequence ENSEMBL: ENSMUSP00000042181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046174]
AlphaFold Q60771
Predicted Effect probably benign
Transcript: ENSMUST00000046174
AA Change: V125A

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042181
Gene: ENSMUSG00000037625
AA Change: V125A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 175 2.6e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (40/40)
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 a major component of CNS (central nervous system) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. The basal cell tight junctions in stria vascularis are primarily composed of this protein, and the gene-null mice suffer severe deafness. This protein is also an obligatory protein for tight junction formation and barrier integrity in the testis and the gene deficiency results in loss of the Sertoli cell epithelial phenotype in the testis. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous null mice exhibit tremors, impaired coordination, hindlimb weakness, abnormal myelination of the cranial nerves, increased auditory thresholds, and abnormal stria vascularis. Mutant males have small testes, abnormal seminiferous tubules, and sperm abnormalities resulting in infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Asxl3 T C 18: 22,650,800 (GRCm39) S930P probably benign Het
Cachd1 T A 4: 100,823,466 (GRCm39) I506N probably damaging Het
Calm1 G T 12: 100,171,967 (GRCm39) V140L probably benign Het
Cdsn A T 17: 35,866,529 (GRCm39) K353* probably null Het
Ddx60 G A 8: 62,470,284 (GRCm39) probably null Het
Dlg2 A G 7: 91,589,248 (GRCm39) I216V probably benign Het
Dnah5 A G 15: 28,311,279 (GRCm39) probably null Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Erap1 A T 13: 74,794,683 (GRCm39) Y114F probably benign Het
Gm14443 G A 2: 175,011,468 (GRCm39) P326L probably damaging Het
Gm2042 T A 12: 87,926,928 (GRCm39) L415Q probably damaging Het
Gm8797 T C 3: 5,816,094 (GRCm39) I44T probably benign Het
Matn2 C A 15: 34,422,555 (GRCm39) F547L probably benign Het
Mpc2 T A 1: 165,308,458 (GRCm39) probably null Het
Or5b12b A G 19: 12,861,268 (GRCm39) T8A probably benign Het
Or7d10 A C 9: 19,832,020 (GRCm39) T172P probably damaging Het
Pcnx4 T A 12: 72,603,687 (GRCm39) L536Q probably damaging Het
Phlpp2 G A 8: 110,595,321 (GRCm39) R24H unknown Het
Pkmyt1 A T 17: 23,952,813 (GRCm39) D123V probably damaging Het
Polg A T 7: 79,106,466 (GRCm39) M668K probably benign Het
Ppp1r12a G T 10: 108,107,598 (GRCm39) A974S probably benign Het
Ppp2r3d T C 9: 101,090,501 (GRCm39) probably benign Het
Rabl3 T C 16: 37,377,225 (GRCm39) Y61H probably damaging Het
Rap2a T A 14: 120,716,269 (GRCm39) I44N probably damaging Het
Rev3l T C 10: 39,735,111 (GRCm39) V2779A probably damaging Het
Rnf43 G T 11: 87,622,057 (GRCm39) R259L probably benign Het
Rspry1 T A 8: 95,376,450 (GRCm39) L448Q probably damaging Het
Slc43a2 T G 11: 75,434,193 (GRCm39) probably null Het
Slc6a5 A G 7: 49,598,057 (GRCm39) I640M probably benign Het
Sp140l1 T G 1: 85,077,261 (GRCm39) S102R probably damaging Het
Srrm2 C T 17: 24,034,297 (GRCm39) P314S unknown Het
Strn4 C T 7: 16,562,733 (GRCm39) R291C probably damaging Het
Syt4 T A 18: 31,577,230 (GRCm39) R41S probably benign Het
Tfb1m T C 17: 3,569,855 (GRCm39) D337G probably benign Het
Togaram1 G T 12: 65,029,465 (GRCm39) D963Y possibly damaging Het
Tpsg1 T C 17: 25,591,564 (GRCm39) C55R probably damaging Het
Tram1l1 A G 3: 124,115,911 (GRCm39) K357R probably benign Het
Veph1 A G 3: 66,171,316 (GRCm39) I42T probably damaging Het
Vps13b C G 15: 35,709,456 (GRCm39) S1801* probably null Het
Zcwpw1 G A 5: 137,817,839 (GRCm39) probably null Het
Zfp266 G A 9: 20,418,110 (GRCm39) probably benign Het
Zmym5 T A 14: 57,031,918 (GRCm39) R397* probably null Het
Other mutations in Cldn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02123:Cldn11 APN 3 31,204,336 (GRCm39) missense probably benign 0.01
IGL02403:Cldn11 APN 3 31,204,345 (GRCm39) missense probably benign 0.00
IGL03047:Cldn11 UTSW 3 31,217,256 (GRCm39) missense probably damaging 1.00
R2122:Cldn11 UTSW 3 31,217,300 (GRCm39) missense probably damaging 1.00
R4082:Cldn11 UTSW 3 31,217,278 (GRCm39) missense probably benign 0.00
R5589:Cldn11 UTSW 3 31,204,395 (GRCm39) missense probably damaging 0.96
R7591:Cldn11 UTSW 3 31,204,436 (GRCm39) missense probably benign 0.24
R8357:Cldn11 UTSW 3 31,217,342 (GRCm39) missense probably benign 0.10
R8457:Cldn11 UTSW 3 31,217,342 (GRCm39) missense probably benign 0.10
R8694:Cldn11 UTSW 3 31,217,239 (GRCm39) missense probably damaging 1.00
R9098:Cldn11 UTSW 3 31,217,276 (GRCm39) missense probably damaging 1.00
R9376:Cldn11 UTSW 3 31,217,410 (GRCm39) missense possibly damaging 0.69
Z1176:Cldn11 UTSW 3 31,204,455 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGTTGAATTCCCGAGAG -3'
(R):5'- CCTATGGGCTCCTTTCACAG -3'

Sequencing Primer
(F):5'- AGTAGGAGGACCTCTCTCTCCAC -3'
(R):5'- CCTTTCACAGATGTAGATAGAGTCCC -3'
Posted On 2020-07-13