Incidental Mutation 'R9098:Cldn11'
ID 691454
Institutional Source Beutler Lab
Gene Symbol Cldn11
Ensembl Gene ENSMUSG00000037625
Gene Name claudin 11
Synonyms Otm, Osp, oligodendrocyte-specific protein
MMRRC Submission 068913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R9098 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 31204069-31218473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31217276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 148 (E148G)
Ref Sequence ENSEMBL: ENSMUSP00000042181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046174]
AlphaFold Q60771
Predicted Effect probably damaging
Transcript: ENSMUST00000046174
AA Change: E148G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042181
Gene: ENSMUSG00000037625
AA Change: E148G

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 175 2.6e-22 PFAM
Meta Mutation Damage Score 0.4076 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (72/74)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,633,211 (GRCm39) D168V probably damaging Het
Abcb4 A T 5: 9,008,441 (GRCm39) D1203V probably damaging Het
Acat2 G A 17: 13,178,979 (GRCm39) probably benign Het
Adam3 C T 8: 25,179,484 (GRCm39) C611Y probably damaging Het
Adgrb1 A G 15: 74,415,189 (GRCm39) D638G probably damaging Het
Adra1b T C 11: 43,667,218 (GRCm39) N340D probably damaging Het
Ankrd31 A G 13: 96,916,879 (GRCm39) H131R probably damaging Het
Aoc2 T C 11: 101,217,164 (GRCm39) S416P possibly damaging Het
Armc8 G A 9: 99,387,362 (GRCm39) R419* probably null Het
Atp6v1h T G 1: 5,163,638 (GRCm39) V90G probably damaging Het
Avl9 T C 6: 56,707,628 (GRCm39) V191A probably benign Het
Bsn G A 9: 107,990,173 (GRCm39) P1860S possibly damaging Het
Btd A G 14: 31,384,233 (GRCm39) K73R probably benign Het
Cd22 T C 7: 30,567,391 (GRCm39) K731R probably benign Het
Chmp7 C A 14: 69,956,911 (GRCm39) L332F probably damaging Het
Cirop T G 14: 54,932,686 (GRCm39) S393R probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnbd1 A T 4: 18,886,061 (GRCm39) Y319* probably null Het
Cnnm4 A G 1: 36,511,170 (GRCm39) T133A probably benign Het
Cpeb4 A T 11: 31,822,679 (GRCm39) E131V probably benign Het
Ctns A G 11: 73,078,561 (GRCm39) probably null Het
Dhx36 C A 3: 62,414,142 (GRCm39) Q73H probably benign Het
Dhx36 C A 3: 62,414,141 (GRCm39) E74* probably null Het
Dnah5 A G 15: 28,420,107 (GRCm39) T3802A Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Flnc C T 6: 29,455,518 (GRCm39) Q2056* probably null Het
Fmo9 T C 1: 166,492,199 (GRCm39) D408G possibly damaging Het
Gipr C T 7: 18,897,495 (GRCm39) S117N unknown Het
Gm14412 T A 2: 177,006,356 (GRCm39) H513L probably damaging Het
Gm21663 G C 5: 26,147,167 (GRCm39) C46W probably benign Het
Gucy1a2 A T 9: 3,634,489 (GRCm39) I178L probably benign Het
Htr1b A T 9: 81,514,481 (GRCm39) L42Q Het
Htr2b T C 1: 86,027,481 (GRCm39) T342A probably damaging Het
Jkampl T C 6: 73,446,517 (GRCm39) T11A probably benign Het
Jph2 C T 2: 163,181,473 (GRCm39) V564M probably damaging Het
Kcnmb1 A G 11: 33,914,806 (GRCm39) T36A probably damaging Het
Krit1 A C 5: 3,863,135 (GRCm39) K310N probably benign Het
Lama1 C T 17: 68,111,508 (GRCm39) T2253M Het
Lpar6 C T 14: 73,476,233 (GRCm39) L65F probably damaging Het
Megf6 G A 4: 154,354,160 (GRCm39) G1355R probably damaging Het
Mmp3 T A 9: 7,446,936 (GRCm39) Y39N probably damaging Het
Mrtfb A G 16: 13,221,053 (GRCm39) H743R probably benign Het
Ms4a18 C A 19: 10,990,741 (GRCm39) V118F Het
Mthfr G A 4: 148,126,082 (GRCm39) S51N probably benign Het
Muc16 T A 9: 18,554,975 (GRCm39) T3773S unknown Het
Mus81 T A 19: 5,534,032 (GRCm39) K400* probably null Het
Naaladl2 A T 3: 24,487,344 (GRCm39) D192E probably benign Het
Naip5 T C 13: 100,366,127 (GRCm39) D329G possibly damaging Het
Nek11 T A 9: 105,170,856 (GRCm39) H393L probably benign Het
Nmt2 T A 2: 3,306,315 (GRCm39) probably benign Het
Nmur2 T C 11: 55,920,408 (GRCm39) D279G possibly damaging Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,379 (GRCm39) D119G probably damaging Het
Or1o2 T C 17: 37,542,961 (GRCm39) Y100C probably benign Het
Or5ak22 T C 2: 85,229,995 (GRCm39) N294S probably damaging Het
Palm A G 10: 79,654,988 (GRCm39) T249A probably benign Het
Pramel22 A T 4: 143,381,097 (GRCm39) Y309N probably benign Het
Rhobtb3 A G 13: 76,087,702 (GRCm39) I95T probably damaging Het
Rnpep A T 1: 135,206,559 (GRCm39) F178L possibly damaging Het
Rsl1d1 A G 16: 11,019,227 (GRCm39) S105P probably damaging Het
Rxra C T 2: 27,638,756 (GRCm39) T253I possibly damaging Het
Schip1 A G 3: 67,972,318 (GRCm39) D15G Het
Sis T A 3: 72,844,578 (GRCm39) I719F possibly damaging Het
Snx18 A G 13: 113,754,310 (GRCm39) S208P probably benign Het
Srcap T C 7: 127,151,816 (GRCm39) V2125A probably damaging Het
Stx7 C T 10: 24,058,724 (GRCm39) Q199* probably null Het
Syt6 T C 3: 103,492,895 (GRCm39) I134T probably damaging Het
Tlr12 A G 4: 128,510,870 (GRCm39) M460T probably benign Het
Tnni3k T C 3: 154,647,314 (GRCm39) T398A possibly damaging Het
Tspan4 T C 7: 141,071,816 (GRCm39) S188P probably benign Het
Ubap2l A G 3: 89,909,756 (GRCm39) S1025P unknown Het
Ubl7 A G 9: 57,829,035 (GRCm39) D219G probably benign Het
Vmn2r115 C A 17: 23,564,803 (GRCm39) T230K probably benign Het
Vmn2r95 T A 17: 18,660,167 (GRCm39) M193K possibly damaging Het
Zfp639 A G 3: 32,573,885 (GRCm39) E170G probably damaging Het
Zfy1 A G Y: 725,987 (GRCm39) S593P possibly damaging Het
Zscan4-ps1 T A 7: 10,799,495 (GRCm39) T465S probably 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
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
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'- TGCCAAAGGAGCTGTGTTCTG -3'
(R):5'- CAGCATTTACAGCACCTCGG -3'

Sequencing Primer
(F):5'- CCAAAGGAGCTGTGTTCTGTTTTG -3'
(R):5'- TGGAGCAGCCCTCTTAGACATG -3'
Posted On 2021-12-30