Incidental Mutation 'R5238:Cldn19'
ID 400478
Institutional Source Beutler Lab
Gene Symbol Cldn19
Ensembl Gene ENSMUSG00000066058
Gene Name claudin 19
Synonyms
MMRRC Submission 042809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5238 (G1)
Quality Score 181
Status Not validated
Chromosome 4
Chromosomal Location 119112638-119119635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119112930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 54 (C54F)
Ref Sequence ENSEMBL: ENSMUSP00000092418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084309] [ENSMUST00000094823]
AlphaFold Q9ET38
Predicted Effect probably damaging
Transcript: ENSMUST00000084309
AA Change: C54F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081334
Gene: ENSMUSG00000066058
AA Change: C54F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 5.8e-45 PFAM
Pfam:Claudin_2 15 184 1.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094823
AA Change: C54F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092418
Gene: ENSMUSG00000066058
AA Change: C54F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 6.1e-43 PFAM
Pfam:Claudin_2 15 184 2.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150252
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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. siRNA knockdown of this gene in mice develops the FHHNC (familial hypomagnesemia with hypercalciuria and nephrocalcinosis) symptoms of chronic renal wasting of magnesium and calcium together with defective renal salt handling. The protein encoded by this gene interacts with another family member, Claudin 16, and their interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. This protein is a constituent of tight junctions in the Schwann cells of peripheral myelinated nerves and the gene deficiency affects the nerve conduction of peripheral myelinated fibers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a peripheral neuropathy associated with significant behavioral abnormalities, a complete lack of tight junctions from myelinated Schwann cells, and abnormal nerve conduction parameters of peripheral myelinated fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,210,142 (GRCm39) probably null Het
Adamtsl5 C T 10: 80,181,192 (GRCm39) G63D probably damaging Het
Armc9 T A 1: 86,127,569 (GRCm39) M68K probably benign Het
Atad2 A C 15: 57,971,733 (GRCm39) H381Q possibly damaging Het
Bclaf1 T G 10: 20,208,130 (GRCm39) probably benign Het
Ccdc188 A G 16: 18,037,038 (GRCm39) E238G probably damaging Het
Clip1 T C 5: 123,785,946 (GRCm39) D246G probably damaging Het
Col20a1 T C 2: 180,640,379 (GRCm39) V512A probably damaging Het
Cyfip1 G T 7: 55,541,779 (GRCm39) A355S probably benign Het
Dffa T G 4: 149,188,760 (GRCm39) L18R probably benign Het
Dnah8 G A 17: 31,009,891 (GRCm39) E3761K probably damaging Het
Dusp10 A G 1: 183,769,210 (GRCm39) T59A possibly damaging Het
Eed T C 7: 89,626,173 (GRCm39) S67G probably benign Het
Fam181a C T 12: 103,282,392 (GRCm39) A99V probably benign Het
Gm12185 G A 11: 48,799,044 (GRCm39) T483I possibly damaging Het
Htr3b A T 9: 48,848,542 (GRCm39) C234* probably null Het
Kidins220 C A 12: 25,053,009 (GRCm39) T433K probably benign Het
Man2a1 T C 17: 64,943,502 (GRCm39) Y186H probably damaging Het
Mcm9 G T 10: 53,506,093 (GRCm39) S60R possibly damaging Het
Mst1r T A 9: 107,784,773 (GRCm39) C144S probably damaging Het
Nckap5 A G 1: 125,955,461 (GRCm39) C364R probably damaging Het
Nptx2 T C 5: 144,493,041 (GRCm39) I376T probably damaging Het
Or2a14 T C 6: 43,130,961 (GRCm39) S241P probably damaging Het
Otogl A T 10: 107,604,834 (GRCm39) C2191S probably damaging Het
Plxdc2 T A 2: 16,655,026 (GRCm39) F208L probably damaging Het
Robo3 A C 9: 37,328,175 (GRCm39) Y1339D probably damaging Het
Rsph9 G T 17: 46,446,008 (GRCm39) Y42* probably null Het
Slc39a1 T A 3: 90,156,702 (GRCm39) L86Q probably null Het
Slfn8 T C 11: 82,904,214 (GRCm39) D392G probably damaging Het
Tiprl A G 1: 165,043,337 (GRCm39) V263A probably benign Het
Tmub2 A G 11: 102,175,820 (GRCm39) probably benign Het
Trpm1 T A 7: 63,918,702 (GRCm39) F681I probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uba3 A T 6: 97,178,896 (GRCm39) C68* probably null Het
Vmn1r158 T A 7: 22,489,799 (GRCm39) M137L probably benign Het
Vmn1r50 C T 6: 90,084,465 (GRCm39) A70V possibly damaging Het
Wwc1 T C 11: 35,766,723 (GRCm39) K511E probably benign Het
Zfp600 T C 4: 146,131,741 (GRCm39) probably null Het
Zng1 G T 19: 24,897,994 (GRCm39) T382K probably damaging Het
Other mutations in Cldn19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02560:Cldn19 APN 4 119,112,921 (GRCm39) nonsense probably null
R1459:Cldn19 UTSW 4 119,112,810 (GRCm39) missense probably damaging 1.00
R1524:Cldn19 UTSW 4 119,114,248 (GRCm39) critical splice donor site probably null
R1828:Cldn19 UTSW 4 119,112,990 (GRCm39) missense probably benign 0.00
R3008:Cldn19 UTSW 4 119,112,987 (GRCm39) missense probably damaging 1.00
R3709:Cldn19 UTSW 4 119,114,094 (GRCm39) missense possibly damaging 0.70
R3877:Cldn19 UTSW 4 119,114,094 (GRCm39) missense possibly damaging 0.70
R4840:Cldn19 UTSW 4 119,112,951 (GRCm39) missense probably damaging 1.00
R5629:Cldn19 UTSW 4 119,114,116 (GRCm39) missense probably damaging 0.98
R7407:Cldn19 UTSW 4 119,112,882 (GRCm39) missense probably damaging 0.98
R9591:Cldn19 UTSW 4 119,114,357 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGAGTCCTGGAACTCTCAGAC -3'
(R):5'- AGGACAGAAGTTAGGGACTCCC -3'

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