Incidental Mutation 'R9591:Cldn19'
ID 722993
Institutional Source Beutler Lab
Gene Symbol Cldn19
Ensembl Gene ENSMUSG00000066058
Gene Name claudin 19
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9591 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 119112638-119119635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119114357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 133 (T133A)
Ref Sequence ENSEMBL: ENSMUSP00000081334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084309] [ENSMUST00000094823]
AlphaFold Q9ET38
PDB Structure CRYSTAL STRUCTURE of MOUSE CLAUDIN-19 IN COMPLEX with C-TERMINAL FRAGMENT OF CLOSTRIDIUM PERFRINGENS ENTEROTOXIN [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000084309
AA Change: T133A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000081334
Gene: ENSMUSG00000066058
AA Change: T133A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 5.8e-45 PFAM
Pfam:Claudin_2 15 184 1.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094823
AA Change: T133A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000092418
Gene: ENSMUSG00000066058
AA Change: T133A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 6.1e-43 PFAM
Pfam:Claudin_2 15 184 2.6e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,488 (GRCm39) I486N probably damaging Het
Ablim3 T C 18: 61,954,984 (GRCm39) Y335C probably benign Het
Adam24 C A 8: 41,132,698 (GRCm39) D55E probably benign Het
Ankrd13d A G 19: 4,320,250 (GRCm39) *164Q probably null Het
Arhgap25 T C 6: 87,440,102 (GRCm39) N515S probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Btbd9 T C 17: 30,736,222 (GRCm39) D297G probably damaging Het
C4b A T 17: 34,957,929 (GRCm39) M584K probably benign Het
C9orf72 C T 4: 35,218,557 (GRCm39) G101R Het
Ccdc116 T C 16: 16,960,598 (GRCm39) D73G probably damaging Het
Cd19 A G 7: 126,011,296 (GRCm39) V296A probably benign Het
Crygn G T 5: 24,961,073 (GRCm39) H78N probably damaging Het
Dhrs11 T G 11: 84,719,584 (GRCm39) N47T probably benign Het
Fat3 T C 9: 16,288,336 (GRCm39) S396G probably benign Het
Gm3667 T C 14: 18,270,388 (GRCm39) Y139C probably damaging Het
Hivep2 A G 10: 14,019,640 (GRCm39) N2137S probably damaging Het
Iapp T A 6: 142,249,063 (GRCm39) C39S probably damaging Het
Irs1 T C 1: 82,265,969 (GRCm39) E749G probably benign Het
Lpcat1 T G 13: 73,659,471 (GRCm39) V411G probably damaging Het
Map3k4 C A 17: 12,454,795 (GRCm39) E1398D possibly damaging Het
Muc5b A G 7: 141,412,516 (GRCm39) T1821A unknown Het
Neu1 T C 17: 35,150,474 (GRCm39) L31P probably benign Het
Nfam1 T C 15: 82,900,581 (GRCm39) T94A possibly damaging Het
Nlrc5 T G 8: 95,249,309 (GRCm39) S1752R probably damaging Het
Opn1sw T A 6: 29,378,926 (GRCm39) E242V probably damaging Het
Or51b6 A T 7: 103,556,470 (GRCm39) I272F Het
Peak1 C A 9: 56,166,834 (GRCm39) V365F possibly damaging Het
Rgl2 C T 17: 34,151,451 (GRCm39) T165I possibly damaging Het
Rnpepl1 T C 1: 92,847,309 (GRCm39) L632P probably damaging Het
Sec1 G A 7: 45,328,102 (GRCm39) T315M Het
Sipa1l2 A T 8: 126,219,112 (GRCm39) M75K probably damaging Het
Smchd1 G A 17: 71,701,828 (GRCm39) H1055Y probably damaging Het
Sprr2a3 T A 3: 92,195,961 (GRCm39) C23S unknown Het
Tbck T A 3: 132,400,195 (GRCm39) L82Q probably benign Het
Tmprss11a C T 5: 86,567,897 (GRCm39) V277I possibly damaging Het
Vmn2r103 A T 17: 20,031,921 (GRCm39) E565V possibly damaging Het
Zfp148 T A 16: 33,315,737 (GRCm39) D230E 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
R5238:Cldn19 UTSW 4 119,112,930 (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
Predicted Primers PCR Primer
(F):5'- TCAGTGTCGTGGGCATGAAG -3'
(R):5'- ACGTGGCTCTCCTTTCTTAGAAAC -3'

Sequencing Primer
(F):5'- CACTCGGGTTGGAGACAGTAACC -3'
(R):5'- AAACTAGCTGGGGCCTGTTAC -3'
Posted On 2022-08-09