Incidental Mutation 'R5167:Cldn23'
ID 397352
Institutional Source Beutler Lab
Gene Symbol Cldn23
Ensembl Gene ENSMUSG00000055976
Gene Name claudin 23
Synonyms 2310014B08Rik
MMRRC Submission 042747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5167 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 36291866-36293713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36293474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 5 (V5M)
Ref Sequence ENSEMBL: ENSMUSP00000049725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060128]
AlphaFold Q9D7D7
Predicted Effect possibly damaging
Transcript: ENSMUST00000060128
AA Change: V5M

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049725
Gene: ENSMUSG00000055976
AA Change: V5M

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 3 177 6e-19 PFAM
low complexity region 273 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210370
Meta Mutation Damage Score 0.2170 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (38/39)
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. 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,862,656 (GRCm39) Y113N probably damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Calm3 T C 7: 16,651,626 (GRCm39) D21G probably damaging Het
D630003M21Rik A G 2: 158,047,665 (GRCm39) S735P probably damaging Het
Dscaml1 T C 9: 45,628,730 (GRCm39) Y1095H probably damaging Het
Esr2 T C 12: 76,170,048 (GRCm39) T427A probably benign Het
Fbxo28 T C 1: 182,145,558 (GRCm39) I177V possibly damaging Het
Fubp1 T C 3: 151,926,989 (GRCm39) L372P possibly damaging Het
Glis1 G A 4: 107,491,891 (GRCm39) G585E probably damaging Het
Gm7258 T C 7: 128,197,791 (GRCm39) noncoding transcript Het
Hecw1 C T 13: 14,460,242 (GRCm39) R613Q probably damaging Het
Kif13b T C 14: 65,010,384 (GRCm39) S1228P probably damaging Het
Knl1 A G 2: 118,900,512 (GRCm39) I738V probably damaging Het
Lig1 T A 7: 13,044,983 (GRCm39) V892D probably damaging Het
Lvrn T A 18: 47,013,814 (GRCm39) Y499N probably damaging Het
Ly9 C A 1: 171,432,773 (GRCm39) W80L probably damaging Het
Lypd5 T C 7: 24,051,889 (GRCm39) V68A possibly damaging Het
Ngdn C T 14: 55,259,656 (GRCm39) Q236* probably null Het
Nudt7 C A 8: 114,878,567 (GRCm39) C154* probably null Het
Obi1 A G 14: 104,716,223 (GRCm39) S717P probably damaging Het
Or14j10 C A 17: 37,934,642 (GRCm39) E295* probably null Het
Or4f14b A T 2: 111,775,447 (GRCm39) M118K probably damaging Het
Or5b117 T A 19: 13,431,741 (GRCm39) I47F probably damaging Het
Paxbp1 A G 16: 90,819,555 (GRCm39) probably null Het
Pcnt G T 10: 76,256,258 (GRCm39) Q661K probably damaging Het
Plekha1 G A 7: 130,487,179 (GRCm39) probably null Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Rac3 A G 11: 120,613,421 (GRCm39) D58G probably null Het
Rgl2 C T 17: 34,154,948 (GRCm39) R203* probably null Het
Ryr1 T C 7: 28,767,118 (GRCm39) D2948G probably damaging Het
Serpina12 A T 12: 104,004,179 (GRCm39) L151Q probably damaging Het
Sf3a1 T C 11: 4,127,456 (GRCm39) V594A possibly damaging Het
Spdl1 G T 11: 34,704,187 (GRCm39) H549N possibly damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Zfp352 A G 4: 90,112,453 (GRCm39) T198A possibly damaging 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
R1610:Cldn23 UTSW 8 36,293,084 (GRCm39) missense probably damaging 1.00
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
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
(F):5'- TAGTGGCCAGTGACGTGATC -3'
(R):5'- ACTTGGTGTGAGAGGCTCAG -3'

Sequencing Primer
(F):5'- AGTGACGTGATCATGAGTCCC -3'
(R):5'- AGGCTCAGTGGGGACAGTTC -3'
Posted On 2016-07-06