Incidental Mutation 'R8457:Cldn11'
ID 655054
Institutional Source Beutler Lab
Gene Symbol Cldn11
Ensembl Gene ENSMUSG00000037625
Gene Name claudin 11
Synonyms Otm, Osp, oligodendrocyte-specific protein
MMRRC Submission 067834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R8457 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 31204069-31218473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31217342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 170 (V170A)
Ref Sequence ENSEMBL: ENSMUSP00000042181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046174]
AlphaFold Q60771
Predicted Effect probably benign
Transcript: ENSMUST00000046174
AA Change: V170A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042181
Gene: ENSMUSG00000037625
AA Change: V170A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 175 2.6e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,030,939 (GRCm39) L813Q probably damaging Het
Alpk3 A G 7: 80,743,066 (GRCm39) N961S probably damaging Het
Arhgap42 A T 9: 9,016,221 (GRCm39) S403T probably benign Het
Cdkl1 T C 12: 69,794,112 (GRCm39) T342A probably benign Het
Chd2 T C 7: 73,096,985 (GRCm39) E1497G probably damaging Het
Cps1 T A 1: 67,196,013 (GRCm39) F291I probably damaging Het
Cpsf2 T A 12: 101,968,929 (GRCm39) S722T probably damaging Het
Creld1 T C 6: 113,468,699 (GRCm39) probably null Het
Dgki T A 6: 36,827,891 (GRCm39) E1002V possibly damaging Het
Disp3 T A 4: 148,345,572 (GRCm39) I423F possibly damaging Het
Dysf T C 6: 84,165,227 (GRCm39) V1601A probably benign Het
E4f1 G A 17: 24,665,501 (GRCm39) A347V probably benign Het
Epb41l1 G A 2: 156,367,171 (GRCm39) R680Q probably benign Het
Fcrl5 T G 3: 87,351,567 (GRCm39) S272A probably damaging Het
Gbp7 A T 3: 142,252,133 (GRCm39) D572V probably benign Het
Gm21903 A T 17: 39,354,211 (GRCm39) F8I unknown Het
Grin2b A G 6: 135,709,197 (GRCm39) S1450P probably benign Het
Icos C A 1: 61,033,015 (GRCm39) S71R probably damaging Het
Ighv1-13 T A 12: 114,594,452 (GRCm39) N51K unknown Het
Ighv1-37 C T 12: 114,860,245 (GRCm39) probably benign Het
Il36g A G 2: 24,078,661 (GRCm39) Y87C probably benign Het
Irf7 T C 7: 140,843,194 (GRCm39) N440D possibly damaging Het
Ivns1abp T A 1: 151,229,761 (GRCm39) L150M probably damaging Het
Kif16b A G 2: 142,553,828 (GRCm39) I990T probably damaging Het
Kif23 A G 9: 61,834,317 (GRCm39) probably null Het
Lca5l T G 16: 95,960,908 (GRCm39) K523T possibly damaging Het
Mast3 A G 8: 71,233,085 (GRCm39) F1076L probably benign Het
Nek11 A T 9: 105,225,191 (GRCm39) I107N probably damaging Het
Nlrp12 T C 7: 3,289,435 (GRCm39) H359R probably damaging Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Or10q12 A T 19: 13,745,721 (GRCm39) N5I probably benign Het
Or8g36 A C 9: 39,422,442 (GRCm39) N191K probably benign Het
Rnf10 C A 5: 115,410,320 (GRCm39) K51N possibly damaging Het
Scap G A 9: 110,210,354 (GRCm39) G921D probably benign Het
Slc6a13 G A 6: 121,303,063 (GRCm39) probably null Het
Tk2 A T 8: 104,963,450 (GRCm39) S140T probably damaging Het
Tmem106b A G 6: 13,084,243 (GRCm39) Y249C probably damaging Het
Ttll5 T A 12: 85,923,352 (GRCm39) S276R probably damaging Het
Ugt1a7c T C 1: 88,023,078 (GRCm39) V79A probably benign Het
Zfp410 T C 12: 84,374,086 (GRCm39) V141A possibly damaging 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
R8174:Cldn11 UTSW 3 31,208,210 (GRCm39) missense probably benign 0.12
R8357: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'- GCCAAAGGAGCTGTGTTCTG -3'
(R):5'- TTTAGTGCCTGGCAGGGAAG -3'

Sequencing Primer
(F):5'- ATGTGTCATGAGTAGACCCGC -3'
(R):5'- ACTGTGGCGAGCAAACC -3'
Posted On 2020-10-20