Incidental Mutation 'R7207:Cldn13'
ID 560693
Institutional Source Beutler Lab
Gene Symbol Cldn13
Ensembl Gene ENSMUSG00000008843
Gene Name claudin 13
Synonyms 2500004B14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7207 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 134943103-134944380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134943766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 140 (H140Y)
Ref Sequence ENSEMBL: ENSMUSP00000008987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008987]
AlphaFold Q9Z0S4
Predicted Effect probably benign
Transcript: ENSMUST00000008987
AA Change: H140Y

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000008987
Gene: ENSMUSG00000008843
AA Change: H140Y

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 180 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,527,734 (GRCm39) Y1019H probably benign Het
Adam11 C A 11: 102,662,883 (GRCm39) A212D probably benign Het
Adamts13 C A 2: 26,868,707 (GRCm39) H230Q probably damaging Het
Adgrl3 G A 5: 81,457,874 (GRCm39) M1I probably null Het
Agap1 A T 1: 89,770,821 (GRCm39) H657L possibly damaging Het
Ano3 T C 2: 110,611,768 (GRCm39) D238G probably damaging Het
Atp8b5 A T 4: 43,357,018 (GRCm39) I589F probably damaging Het
Bmp1 C T 14: 70,717,000 (GRCm39) A859T possibly damaging Het
Cdh20 C A 1: 104,921,702 (GRCm39) D666E probably damaging Het
Cep135 T G 5: 76,780,090 (GRCm39) D807E probably benign Het
Cnksr1 G T 4: 133,962,434 (GRCm39) Q155K possibly damaging Het
Col1a1 G A 11: 94,829,352 (GRCm39) R121Q unknown Het
Coro6 G A 11: 77,358,089 (GRCm39) A225T possibly damaging Het
Ctse C A 1: 131,592,112 (GRCm39) T146K possibly damaging Het
Dhrs7b C A 11: 60,746,623 (GRCm39) Y237* probably null Het
Dnah3 A G 7: 119,570,312 (GRCm39) F2303L probably damaging Het
Dsg2 T A 18: 20,734,516 (GRCm39) D831E probably damaging Het
Dst T C 1: 34,202,418 (GRCm39) S575P probably damaging Het
Epg5 T C 18: 77,992,170 (GRCm39) L289P probably damaging Het
Etl4 A G 2: 20,714,387 (GRCm39) N162S probably damaging Het
Fbf1 A T 11: 116,040,300 (GRCm39) Y602N probably benign Het
Fgd4 A T 16: 16,302,420 (GRCm39) M45K probably benign Het
Fryl C T 5: 73,222,438 (GRCm39) V2048I probably benign Het
Gulp1 T C 1: 44,805,292 (GRCm39) V127A possibly damaging Het
H2-DMb1 T A 17: 34,376,490 (GRCm39) I203N probably damaging Het
Harbi1 T C 2: 91,542,790 (GRCm39) S84P probably damaging Het
Hrh2 T C 13: 54,368,266 (GRCm39) S81P possibly damaging Het
Iars1 T C 13: 49,841,791 (GRCm39) probably null Het
Kcnma1 T C 14: 23,359,083 (GRCm39) *1087W probably null Het
Lama5 T A 2: 179,848,877 (GRCm39) N241I probably damaging Het
Lig4 T A 8: 10,022,101 (GRCm39) K560* probably null Het
Lpin3 G T 2: 160,735,923 (GRCm39) E68* probably null Het
Mrtfb A T 16: 13,144,300 (GRCm39) I7L probably benign Het
Msrb3 A T 10: 120,627,305 (GRCm39) probably null Het
Muc5b A G 7: 141,416,602 (GRCm39) T3183A probably benign Het
Mx1 T A 16: 97,253,398 (GRCm39) D342V probably benign Het
Nrap G T 19: 56,333,953 (GRCm39) T1003K probably damaging Het
Or8u10 A G 2: 85,915,159 (GRCm39) S321P possibly damaging Het
Plxna2 C T 1: 194,326,327 (GRCm39) P87L probably damaging Het
Pms2 C T 5: 143,850,452 (GRCm39) T89I probably damaging Het
Ppp1r12c C A 7: 4,492,867 (GRCm39) R203L probably damaging Het
Pramel31 A G 4: 144,088,473 (GRCm39) T90A probably benign Het
Rab44 C T 17: 29,357,013 (GRCm39) Q48* probably null Het
Rgs14 T C 13: 55,531,047 (GRCm39) V417A probably benign Het
Sgms1 T A 19: 32,120,147 (GRCm39) K253M probably null Het
Sidt2 T C 9: 45,856,449 (GRCm39) Y492C probably damaging Het
Slco1a5 G T 6: 142,194,475 (GRCm39) Y389* probably null Het
Slfn14 G A 11: 83,170,214 (GRCm39) Q477* probably null Het
Sorbs3 T C 14: 70,438,934 (GRCm39) K142R probably damaging Het
Sphk1 A T 11: 116,426,590 (GRCm39) D182V probably damaging Het
Srsf9 C G 5: 115,465,481 (GRCm39) Y38* probably null Het
Stk40 A C 4: 126,019,547 (GRCm39) E107A probably damaging Het
Syngr4 T C 7: 45,538,101 (GRCm39) Y89C possibly damaging Het
Tead1 G A 7: 112,441,287 (GRCm39) R109H possibly damaging Het
Thra A G 11: 98,651,802 (GRCm39) Q108R probably damaging Het
Tnni3k G A 3: 154,580,782 (GRCm39) T621I probably damaging Het
Trim3 A C 7: 105,262,583 (GRCm39) V525G possibly damaging Het
Usp49 T C 17: 47,989,802 (GRCm39) V529A probably benign Het
Vill A T 9: 118,900,281 (GRCm39) Q849L possibly damaging Het
Vps36 T A 8: 22,701,623 (GRCm39) S237T probably benign Het
Zar1l A T 5: 150,430,558 (GRCm39) C284* probably null Het
Zfp948 T C 17: 21,808,602 (GRCm39) V598A possibly damaging Het
Zfp952 T C 17: 33,222,489 (GRCm39) Y323H 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
R6459:Cldn13 UTSW 5 134,943,769 (GRCm39) missense possibly damaging 0.64
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'- CTAGGGGTCTCAATGCAACG -3'
(R):5'- CTGTATGACACCCGGATACTG -3'

Sequencing Primer
(F):5'- CGGGGAAAGTCTCTGCATACTG -3'
(R):5'- CACAGGACATAAAAGTGTCTCGAGTC -3'
Posted On 2019-06-26