Incidental Mutation 'R1610:Cldn23'
ID 176737
Institutional Source Beutler Lab
Gene Symbol Cldn23
Ensembl Gene ENSMUSG00000055976
Gene Name claudin 23
Synonyms 2310014B08Rik
MMRRC Submission 039647-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 36291866-36293713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36293084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 135 (Y135H)
Ref Sequence ENSEMBL: ENSMUSP00000049725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060128]
AlphaFold Q9D7D7
Predicted Effect probably damaging
Transcript: ENSMUST00000060128
AA Change: Y135H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: Y135H

Pfam:PMP22_Claudin 3 177 6e-19 PFAM
low complexity region 273 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210370
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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. This gene is intronless and the protein encoded by this gene is 77% identical to the human homolog. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign Het
Other mutations in Cldn23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Cldn23 APN 8 36,293,074 (GRCm39) missense possibly damaging 0.81
IGL01767:Cldn23 APN 8 36,292,816 (GRCm39) missense probably damaging 1.00
IGL02078:Cldn23 APN 8 36,293,359 (GRCm39) missense possibly damaging 0.94
IGL03346:Cldn23 APN 8 36,292,594 (GRCm39) intron probably benign
R1753:Cldn23 UTSW 8 36,293,140 (GRCm39) missense possibly damaging 0.94
R1915:Cldn23 UTSW 8 36,293,099 (GRCm39) missense possibly damaging 0.69
R2121:Cldn23 UTSW 8 36,293,389 (GRCm39) missense probably benign
R4342:Cldn23 UTSW 8 36,292,652 (GRCm39) missense probably benign 0.00
R5167:Cldn23 UTSW 8 36,293,474 (GRCm39) missense possibly damaging 0.89
R5207:Cldn23 UTSW 8 36,293,182 (GRCm39) missense probably damaging 1.00
R6102:Cldn23 UTSW 8 36,292,705 (GRCm39) missense probably benign 0.00
R7106:Cldn23 UTSW 8 36,293,069 (GRCm39) missense probably benign
R7363:Cldn23 UTSW 8 36,292,659 (GRCm39) critical splice donor site probably null
R7721:Cldn23 UTSW 8 36,293,417 (GRCm39) missense possibly damaging 0.89
R8119:Cldn23 UTSW 8 36,293,056 (GRCm39) missense probably damaging 0.99
R9011:Cldn23 UTSW 8 36,292,826 (GRCm39) missense probably damaging 1.00
R9504:Cldn23 UTSW 8 36,293,470 (GRCm39) missense probably damaging 1.00
Z1176:Cldn23 UTSW 8 36,293,431 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-24