Incidental Mutation 'R8333:Cldn13'
ID 644474
Institutional Source Beutler Lab
Gene Symbol Cldn13
Ensembl Gene ENSMUSG00000008843
Gene Name claudin 13
Synonyms 2500004B14Rik
MMRRC Submission 067861-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8333 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 134943103-134944380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134943850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 112 (I112F)
Ref Sequence ENSEMBL: ENSMUSP00000008987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008987]
AlphaFold Q9Z0S4
Predicted Effect possibly damaging
Transcript: ENSMUST00000008987
AA Change: I112F

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000008987
Gene: ENSMUSG00000008843
AA Change: I112F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 180 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 T C 15: 97,143,166 (GRCm39) T419A probably damaging Het
Baiap2l1 A C 5: 144,217,691 (GRCm39) I298M possibly damaging Het
BC005624 G T 2: 30,863,748 (GRCm39) A245D probably benign Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Celsr1 T C 15: 85,915,615 (GRCm39) H786R possibly damaging Het
Cerkl A G 2: 79,168,922 (GRCm39) V427A possibly damaging Het
Cfap43 G T 19: 47,885,765 (GRCm39) C283* probably null Het
Chfr G A 5: 110,302,803 (GRCm39) A455T probably benign Het
Cyb5rl T A 4: 106,925,875 (GRCm39) V19E probably benign Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Dlgap2 T A 8: 14,828,295 (GRCm39) C568S probably benign Het
Ecm2 T C 13: 49,671,859 (GRCm39) L120P probably damaging Het
Gpr156 T C 16: 37,812,416 (GRCm39) S251P probably damaging Het
Gpr182 T C 10: 127,585,790 (GRCm39) N387S probably benign Het
Grid1 T C 14: 35,291,595 (GRCm39) V834A possibly damaging Het
Igkv8-34 T C 6: 70,021,337 (GRCm39) S42G probably benign Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lrrc19 T A 4: 94,527,587 (GRCm39) D208V probably benign Het
Lrrc9 C T 12: 72,528,317 (GRCm39) T872I probably benign Het
Macf1 T C 4: 123,279,245 (GRCm39) probably null Het
Mrpl13 A G 15: 55,420,679 (GRCm39) M1T probably null Het
Ncapg C T 5: 45,831,805 (GRCm39) T217I probably damaging Het
Nim1k G A 13: 120,174,022 (GRCm39) P291S probably damaging Het
Or8c11 G A 9: 38,289,912 (GRCm39) G239D probably damaging Het
Or8k31-ps1 A T 2: 86,356,415 (GRCm39) Y35* probably null Het
Padi6 T C 4: 140,464,687 (GRCm39) M181V probably damaging Het
Pax7 T A 4: 139,557,514 (GRCm39) I86F probably damaging Het
Pbk T A 14: 66,054,680 (GRCm39) Y271N probably benign Het
Rabgap1 C T 2: 37,385,710 (GRCm39) P492L probably benign Het
Rhno1 G T 6: 128,334,728 (GRCm39) D198E probably damaging Het
Scn2a A C 2: 65,514,191 (GRCm39) I292L probably benign Het
Slc40a1 T C 1: 45,950,439 (GRCm39) S338G probably damaging Het
Slc45a3 A G 1: 131,905,928 (GRCm39) Y317C probably damaging Het
Stard9 T A 2: 120,532,270 (GRCm39) S2842R probably benign Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Ttn C T 2: 76,553,938 (GRCm39) V30922I possibly damaging Het
Usp33 C T 3: 152,080,297 (GRCm39) P476L probably damaging Het
Wdr38 T C 2: 38,889,361 (GRCm39) Y51H probably 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
R5333:Cldn13 UTSW 5 134,943,869 (GRCm39) missense probably benign 0.19
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
R9510:Cldn13 UTSW 5 134,943,843 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- ACTGGGATGTTGACACAGAG -3'
(R):5'- ATGCCAGGTTCGGGAAAAC -3'

Sequencing Primer
(F):5'- TTGACACAGAGCAGGATGCCTC -3'
(R):5'- CCAGGTTCGGGAAAACAGGTG -3'
Posted On 2020-09-02