Incidental Mutation 'R6200:Cldn17'
ID 503159
Institutional Source Beutler Lab
Gene Symbol Cldn17
Ensembl Gene ENSMUSG00000055811
Gene Name claudin 17
Synonyms
MMRRC Submission 044340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6200 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 88302695-88303866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88303459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 90 (L90R)
Ref Sequence ENSEMBL: ENSMUSP00000066427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069549]
AlphaFold Q8BXA6
Predicted Effect probably damaging
Transcript: ENSMUST00000069549
AA Change: L90R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066427
Gene: ENSMUSG00000055811
AA Change: L90R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 9.8e-29 PFAM
Pfam:Claudin_2 16 184 2.6e-9 PFAM
Meta Mutation Damage Score 0.6856 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 91% (32/35)
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 is clustered with the Cldn8 gene on chromosome 16. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,876 (GRCm39) Y54C probably damaging Het
Ash1l A G 3: 88,977,834 (GRCm39) H2719R probably damaging Het
Atraid A G 5: 31,210,210 (GRCm39) N127D probably damaging Het
Capzb T C 4: 139,007,324 (GRCm39) V145A probably benign Het
Catspere2 A G 1: 177,939,124 (GRCm39) N666D possibly damaging Het
Cfhr4 T A 1: 139,682,073 (GRCm39) R174S probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Fancc A C 13: 63,508,062 (GRCm39) L158V probably damaging Het
Fcamr T C 1: 130,730,927 (GRCm39) L60P probably benign Het
G6pd2 C T 5: 61,967,214 (GRCm39) R330C probably benign Het
Gpr158 A T 2: 21,404,227 (GRCm39) N333I probably damaging Het
Herpud2 A G 9: 25,062,130 (GRCm39) Y45H probably damaging Het
Icam5 A G 9: 20,950,045 (GRCm39) Y868C probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Luzp1 C A 4: 136,268,577 (GRCm39) Q267K probably benign Het
Nkpd1 C A 7: 19,258,528 (GRCm39) A769E possibly damaging Het
Or5p58 AACTCTGTCACT AACT 7: 107,694,732 (GRCm39) probably null Het
Pabpc4l C A 3: 46,401,138 (GRCm39) V169L probably damaging Het
Pcdhga7 A G 18: 37,849,135 (GRCm39) N381D probably damaging Het
Pcsk1 A T 13: 75,263,374 (GRCm39) N372Y possibly damaging Het
Ppp1r21 C T 17: 88,876,613 (GRCm39) T475M possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Psd2 G A 18: 36,139,776 (GRCm39) probably null Het
Psip1 T C 4: 83,392,610 (GRCm39) K100E probably benign Het
Pxdn A G 12: 30,053,111 (GRCm39) H1096R probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a8 C T 15: 79,137,137 (GRCm39) G91D probably damaging Het
Slc22a21 A T 11: 53,848,864 (GRCm39) I296N probably damaging Het
Smad9 A G 3: 54,696,607 (GRCm39) D224G probably benign Het
Tle2 G A 10: 81,424,706 (GRCm39) V678M probably damaging Het
Tmc1 C T 19: 20,766,954 (GRCm39) R749Q possibly damaging Het
Tmco3 T A 8: 13,342,077 (GRCm39) probably null Het
Tspoap1 A G 11: 87,652,529 (GRCm39) E101G possibly damaging Het
Zfp57 A T 17: 37,321,303 (GRCm39) T386S probably benign Het
Other mutations in Cldn17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Cldn17 APN 16 88,303,045 (GRCm39) utr 3 prime probably benign
IGL01481:Cldn17 APN 16 88,303,471 (GRCm39) missense probably benign 0.03
IGL01505:Cldn17 APN 16 88,303,591 (GRCm39) missense possibly damaging 0.67
IGL03100:Cldn17 APN 16 88,303,489 (GRCm39) missense probably damaging 1.00
BB002:Cldn17 UTSW 16 88,303,533 (GRCm39) missense probably damaging 1.00
BB012:Cldn17 UTSW 16 88,303,533 (GRCm39) missense probably damaging 1.00
R1721:Cldn17 UTSW 16 88,303,444 (GRCm39) missense probably damaging 1.00
R5944:Cldn17 UTSW 16 88,303,597 (GRCm39) missense probably damaging 1.00
R6750:Cldn17 UTSW 16 88,303,195 (GRCm39) missense possibly damaging 0.88
R7698:Cldn17 UTSW 16 88,303,244 (GRCm39) nonsense probably null
R7925:Cldn17 UTSW 16 88,303,533 (GRCm39) missense probably damaging 1.00
X0025:Cldn17 UTSW 16 88,303,280 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGAAGAGTGCTCCTCCAAG -3'
(R):5'- AGCTTTCATCGGCAGCAAC -3'

Sequencing Primer
(F):5'- GGAAGAGTGCTCCTCCAAGTTCTC -3'
(R):5'- CGGCAGCAACATTATTATCTTTGAG -3'
Posted On 2018-02-27