Incidental Mutation 'R6459:Cldn13'
ID 517507
Institutional Source Beutler Lab
Gene Symbol Cldn13
Ensembl Gene ENSMUSG00000008843
Gene Name claudin 13
Synonyms 2500004B14Rik
MMRRC Submission 044594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6459 (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 C at 134943769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 139 (T139A)
Ref Sequence ENSEMBL: ENSMUSP00000008987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008987]
AlphaFold Q9Z0S4
Predicted Effect possibly damaging
Transcript: ENSMUST00000008987
AA Change: T139A

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000008987
Gene: ENSMUSG00000008843
AA Change: T139A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 180 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200866
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr C A 11: 76,315,815 (GRCm39) R583L probably damaging Het
Acss1 A G 2: 150,509,840 (GRCm39) I93T probably damaging Het
Ank3 C T 10: 69,827,577 (GRCm39) probably benign Het
Aoah A G 13: 21,184,112 (GRCm39) Y392C probably damaging Het
Atl3 A T 19: 7,498,163 (GRCm39) E186D probably benign Het
Atp4a A G 7: 30,411,887 (GRCm39) K41E probably benign Het
Atp9a G A 2: 168,509,933 (GRCm39) P500L probably damaging Het
Ccdc88b A T 19: 6,832,246 (GRCm39) V363D possibly damaging Het
Cftr T C 6: 18,258,235 (GRCm39) V532A probably damaging Het
Cnksr3 T C 10: 7,076,820 (GRCm39) Y124C probably benign Het
Cyb5r2 T C 7: 107,352,462 (GRCm39) K161E possibly damaging Het
Epop T C 11: 97,519,333 (GRCm39) S259G possibly damaging Het
Fhl2 G A 1: 43,162,813 (GRCm39) T234I possibly damaging Het
Fnip2 T C 3: 79,388,941 (GRCm39) T567A possibly damaging Het
Frmd4b A G 6: 97,464,601 (GRCm39) C39R probably damaging Het
Grhl3 T C 4: 135,284,744 (GRCm39) N116S possibly damaging Het
Igkv14-111 A T 6: 68,233,725 (GRCm39) R75S probably benign Het
Il16 A T 7: 83,371,529 (GRCm39) D92E probably damaging Het
Il16 C A 7: 83,371,536 (GRCm39) G90V probably damaging Het
Ipo11 T C 13: 107,002,277 (GRCm39) probably null Het
Kng2 A G 16: 22,830,865 (GRCm39) I148T probably damaging Het
Lrrc41 T C 4: 115,945,977 (GRCm39) S231P possibly damaging Het
Maneal C T 4: 124,750,635 (GRCm39) V374I possibly damaging Het
Mgat4c T A 10: 102,220,988 (GRCm39) L90Q probably damaging Het
Mrps28 A G 3: 8,965,040 (GRCm39) probably null Het
Ncapd3 A G 9: 26,963,051 (GRCm39) D452G probably benign Het
Nefh T C 11: 4,889,551 (GRCm39) T1023A unknown Het
Nipa1 A G 7: 55,629,354 (GRCm39) V253A probably benign Het
Or5ac17 C T 16: 59,036,383 (GRCm39) V198M probably benign Het
Or5b97 G T 19: 12,878,369 (GRCm39) F258L possibly damaging Het
Or5m11 G T 2: 85,781,862 (GRCm39) G152C probably damaging Het
Or8d23 A G 9: 38,841,961 (GRCm39) S165G probably benign Het
Or8k41 T A 2: 86,313,573 (GRCm39) H171L probably benign Het
Pak1 A G 7: 97,557,088 (GRCm39) D495G probably benign Het
Pcm1 G A 8: 41,714,073 (GRCm39) R213H probably damaging Het
Prg4 T C 1: 150,330,052 (GRCm39) probably benign Het
Proser1 C T 3: 53,385,750 (GRCm39) T544M possibly damaging Het
Rftn1 T C 17: 50,354,334 (GRCm39) M343V probably benign Het
Ryr1 T C 7: 28,715,079 (GRCm39) I4656V probably benign Het
Scg2 T A 1: 79,414,007 (GRCm39) N239Y probably damaging Het
Sec16a C A 2: 26,313,512 (GRCm39) M1949I probably benign Het
Sipa1l2 A G 8: 126,171,223 (GRCm39) probably null Het
Slc10a2 A C 8: 5,148,581 (GRCm39) probably null Het
Slc25a16 C T 10: 62,773,256 (GRCm39) Q164* probably null Het
Specc1l T C 10: 75,082,001 (GRCm39) Y483H probably damaging Het
Ston1 T C 17: 88,943,896 (GRCm39) V434A probably benign Het
Tarbp2 A G 15: 102,426,914 (GRCm39) probably benign Het
Trappc8 C T 18: 20,969,925 (GRCm39) V1022M probably benign Het
Tsen54 T C 11: 115,712,506 (GRCm39) V269A probably damaging Het
Vps13a A T 19: 16,641,382 (GRCm39) M78K possibly damaging Het
Vwa5b2 A G 16: 20,413,429 (GRCm39) T215A probably damaging Het
Zc3h7a A G 16: 10,971,025 (GRCm39) Y335H probably damaging Het
Zfp994 T A 17: 22,419,527 (GRCm39) Q474L 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
R5333:Cldn13 UTSW 5 134,943,869 (GRCm39) missense probably benign 0.19
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'- TAGGGGTCTCAATGCAACGG -3'
(R):5'- CTGTATGACACCCGGATACTG -3'

Sequencing Primer
(F):5'- CGGGGAAAGTCTCTGCATACTG -3'
(R):5'- CACAGGACATAAAAGTGTCTCGAGTC -3'
Posted On 2018-05-21