Incidental Mutation 'R5333:Cldn13'
ID 423344
Institutional Source Beutler Lab
Gene Symbol Cldn13
Ensembl Gene ENSMUSG00000008843
Gene Name claudin 13
Synonyms 2500004B14Rik
MMRRC Submission 042915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5333 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 134943103-134944380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134943869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 105 (N105K)
Ref Sequence ENSEMBL: ENSMUSP00000008987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008987]
AlphaFold Q9Z0S4
Predicted Effect probably benign
Transcript: ENSMUST00000008987
AA Change: N105K

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000008987
Gene: ENSMUSG00000008843
AA Change: N105K

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 180 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200866
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (56/58)
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 developmentally expressed renal tight junction protein. This gene is expressed in the cecum, colon, liver and kidney of mice, but is not identified in rat tissues. Humans and chimpanzees lack this gene. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abca14 T A 7: 119,888,769 (GRCm39) Y1238* probably null Het
Abcb5 A T 12: 118,831,677 (GRCm39) V1225D probably damaging Het
Arhgef15 A G 11: 68,838,022 (GRCm39) probably benign Het
As3mt A G 19: 46,696,635 (GRCm39) R58G probably null Het
Asap1 T G 15: 63,999,263 (GRCm39) N525T possibly damaging Het
Bhmt2 A G 13: 93,807,938 (GRCm39) V50A probably benign Het
Bpnt2 A C 4: 4,767,963 (GRCm39) V271G possibly damaging Het
Ccdc180 A T 4: 45,890,935 (GRCm39) I36F possibly damaging Het
Cd209c A G 8: 3,994,976 (GRCm39) S63P probably damaging Het
Cdc37 T C 9: 21,054,457 (GRCm39) E56G possibly damaging Het
Cdkal1 T C 13: 29,510,135 (GRCm39) Y541C probably benign Het
Cenph G T 13: 100,898,280 (GRCm39) H208N probably benign Het
Cfap65 A T 1: 74,942,334 (GRCm39) L1740Q probably benign Het
Cfap74 A G 4: 155,521,197 (GRCm39) D623G probably damaging Het
Ckap4 C A 10: 84,363,474 (GRCm39) V530L probably damaging Het
Ddn T C 15: 98,703,237 (GRCm39) D685G possibly damaging Het
Fdxr T C 11: 115,163,084 (GRCm39) I70V probably benign Het
Fn1 A T 1: 71,663,339 (GRCm39) Y1050N probably damaging Het
Iqcf3 A G 9: 106,430,860 (GRCm39) I96T possibly damaging Het
Itgax A G 7: 127,741,455 (GRCm39) Y822C probably damaging Het
Katnb1 A T 8: 95,822,234 (GRCm39) I286L possibly damaging Het
Lrp2 A C 2: 69,355,572 (GRCm39) I424R probably benign Het
Lrpprc C A 17: 85,097,821 (GRCm39) A41S probably benign Het
Mast3 A G 8: 71,236,145 (GRCm39) L761P probably benign Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mpp4 C A 1: 59,196,600 (GRCm39) R44L probably benign Het
Nalf1 T A 8: 9,820,762 (GRCm39) Q86L possibly damaging Het
Nkain3 T A 4: 20,484,889 (GRCm39) M63L probably benign Het
Nup88 A C 11: 70,835,842 (GRCm39) probably benign Het
Obscn A T 11: 58,953,518 (GRCm39) C3837S probably damaging Het
Ogdh T G 11: 6,302,126 (GRCm39) L850V probably damaging Het
Or4f17-ps1 A G 2: 111,358,048 (GRCm39) I148V probably benign Het
Or5w11 A G 2: 87,459,458 (GRCm39) Y217C probably damaging Het
Panx2 T C 15: 88,952,742 (GRCm39) I411T possibly damaging Het
Papss1 T A 3: 131,348,805 (GRCm39) M585K probably damaging Het
Pcbp2 T G 15: 102,394,456 (GRCm39) L180R possibly damaging Het
Pcdha7 A T 18: 37,107,619 (GRCm39) T215S probably benign Het
Pcdhga4 C T 18: 37,818,477 (GRCm39) R9C probably benign Het
Plin4 A G 17: 56,411,970 (GRCm39) V687A probably benign Het
Potefam1 A T 2: 111,024,682 (GRCm39) Y61N possibly damaging Het
Psma6 A G 12: 55,454,213 (GRCm39) probably benign Het
Rcn1 A T 2: 105,219,471 (GRCm39) S241T probably benign Het
Scgb2b18 A T 7: 32,872,700 (GRCm39) L35H probably damaging Het
Slc11a1 A C 1: 74,423,304 (GRCm39) D385A probably damaging Het
Stk31 T A 6: 49,446,086 (GRCm39) C930S probably benign Het
Syt10 T A 15: 89,725,932 (GRCm39) Q14L probably benign Het
Tnxb T G 17: 34,909,205 (GRCm39) W1578G probably damaging Het
Triml1 C T 8: 43,583,327 (GRCm39) A425T possibly damaging Het
Vil1 G A 1: 74,471,549 (GRCm39) V777I probably benign Het
Vmn1r175 T C 7: 23,508,004 (GRCm39) I208V possibly damaging Het
Other mutations in Cldn13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Cldn13 APN 5 134,944,114 (GRCm39) missense possibly damaging 0.60
R0330:Cldn13 UTSW 5 134,944,176 (GRCm39) missense probably benign 0.00
R0632:Cldn13 UTSW 5 134,943,601 (GRCm39) missense probably benign 0.01
R6459:Cldn13 UTSW 5 134,943,769 (GRCm39) missense possibly damaging 0.64
R7207:Cldn13 UTSW 5 134,943,766 (GRCm39) missense probably benign 0.19
R7320:Cldn13 UTSW 5 134,943,874 (GRCm39) missense probably benign 0.01
R7472:Cldn13 UTSW 5 134,943,975 (GRCm39) missense probably damaging 0.96
R8323:Cldn13 UTSW 5 134,943,828 (GRCm39) missense probably benign 0.02
R8333:Cldn13 UTSW 5 134,943,850 (GRCm39) missense possibly damaging 0.81
R9510:Cldn13 UTSW 5 134,943,843 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- ATACTGGGATGTTGACACAGAGC -3'
(R):5'- GAGGGTCTGTGGCACATATG -3'

Sequencing Primer
(F):5'- TTGACACAGAGCAGGATGCCTC -3'
(R):5'- GCACATATGCCAGGTTCGG -3'
Posted On 2016-08-04