Incidental Mutation 'R5629:Cldn19'
ID 441969
Institutional Source Beutler Lab
Gene Symbol Cldn19
Ensembl Gene ENSMUSG00000066058
Gene Name claudin 19
Synonyms
MMRRC Submission 043280-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5629 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 119112638-119119635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119114116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 86 (V86E)
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: V86E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081334
Gene: ENSMUSG00000066058
AA Change: V86E

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: V86E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092418
Gene: ENSMUSG00000066058
AA Change: V86E

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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. 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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,014,507 (GRCm39) D189N probably benign Het
Adamts9 A T 6: 92,775,114 (GRCm39) V1052D probably damaging Het
Apob T C 12: 8,057,847 (GRCm39) Y2077H probably damaging Het
Apol7e A T 15: 77,602,276 (GRCm39) K291N probably benign Het
Arsk A T 13: 76,242,027 (GRCm39) I82N probably damaging Het
Art1 A G 7: 101,756,286 (GRCm39) Q159R probably benign Het
Atp2a2 A G 5: 122,598,159 (GRCm39) V733A probably damaging Het
Btn2a2 A T 13: 23,666,130 (GRCm39) probably null Het
Catsper1 C T 19: 5,386,165 (GRCm39) P133S probably benign Het
Celsr3 A G 9: 108,726,266 (GRCm39) D3165G probably benign Het
Ctnna1 T A 18: 35,382,802 (GRCm39) D649E probably benign Het
Cttnbp2 A G 6: 18,405,217 (GRCm39) I1094T probably damaging Het
Ddx24 T C 12: 103,391,806 (GRCm39) probably benign Het
Ern2 T A 7: 121,769,389 (GRCm39) H879L probably damaging Het
Etv4 T A 11: 101,662,751 (GRCm39) H277L probably damaging Het
Faap100 G T 11: 120,267,837 (GRCm39) A312D probably damaging Het
Glipr1l1 G A 10: 111,914,308 (GRCm39) C223Y possibly damaging Het
Gna14 T C 19: 16,414,097 (GRCm39) S14P possibly damaging Het
Hapln1 A G 13: 89,749,634 (GRCm39) T60A probably damaging Het
Hars2 T A 18: 36,921,719 (GRCm39) Y273* probably null Het
Ighv5-6 A T 12: 113,589,242 (GRCm39) Y79* probably null Het
Iqgap2 T A 13: 95,768,682 (GRCm39) N1406I probably damaging Het
Kalrn T C 16: 33,860,304 (GRCm39) T215A possibly damaging Het
Krtap13-1 T A 16: 88,526,047 (GRCm39) S90R probably benign Het
Mettl8 T C 2: 70,795,913 (GRCm39) I372V probably benign Het
Mfn1 A T 3: 32,615,659 (GRCm39) T341S possibly damaging Het
Mocos T A 18: 24,797,142 (GRCm39) probably null Het
Muc5b T C 7: 141,415,036 (GRCm39) S2661P possibly damaging Het
Myo15a C T 11: 60,370,578 (GRCm39) P1113S probably benign Het
Myo5a A T 9: 75,111,127 (GRCm39) I1540F possibly damaging Het
Myoc T C 1: 162,476,156 (GRCm39) Y287H probably damaging Het
Napepld A G 5: 21,880,901 (GRCm39) F165L probably benign Het
Ndufb10 T C 17: 24,941,656 (GRCm39) E102G probably damaging Het
Nrros T A 16: 31,963,223 (GRCm39) I265F probably damaging Het
Nrxn1 A T 17: 90,897,460 (GRCm39) F891I possibly damaging Het
Nsfl1c T C 2: 151,346,085 (GRCm39) Y169H probably damaging Het
Oas2 G A 5: 120,876,516 (GRCm39) Q476* probably null Het
Or51f5 A T 7: 102,423,847 (GRCm39) I39F possibly damaging Het
Pcnx2 C A 8: 126,624,780 (GRCm39) W14L probably damaging Het
Pip4p1 T C 14: 51,165,373 (GRCm39) H278R probably benign Het
Piwil2 C T 14: 70,660,416 (GRCm39) V70M probably damaging Het
Prss23 A C 7: 89,159,400 (GRCm39) V223G probably damaging Het
Rarres2 A T 6: 48,547,194 (GRCm39) L122Q probably benign Het
Robo1 T C 16: 72,780,598 (GRCm39) V776A probably benign Het
Robo3 G A 9: 37,330,507 (GRCm39) Q1008* probably null Het
Robo4 G A 9: 37,319,658 (GRCm39) C636Y probably damaging Het
Sacm1l A G 9: 123,395,464 (GRCm39) M196V probably benign Het
Septin7 T A 9: 25,199,589 (GRCm39) Y163N probably damaging Het
Skint6 G A 4: 112,870,176 (GRCm39) T594I possibly damaging Het
Slc23a1 T C 18: 35,759,545 (GRCm39) H13R probably benign Het
Slc25a39 A C 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc8a3 G A 12: 81,246,405 (GRCm39) R883C probably damaging Het
Spag17 A T 3: 99,987,435 (GRCm39) Y1575F probably benign Het
Spdye4c T A 2: 128,438,705 (GRCm39) I321N probably damaging Het
Stk32b G A 5: 37,614,576 (GRCm39) P311S probably damaging Het
Svs3a T A 2: 164,132,040 (GRCm39) S203T probably benign Het
Taf3 A T 2: 9,922,989 (GRCm39) I45N probably damaging Het
Taf7 T C 18: 37,776,555 (GRCm39) N4S probably benign Het
Tial1 T A 7: 128,046,421 (GRCm39) D87V probably damaging Het
Tmem120a T A 5: 135,770,904 (GRCm39) E78V probably benign Het
Tmem19 A G 10: 115,183,165 (GRCm39) F137L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trim30d T C 7: 104,137,136 (GRCm39) K23E possibly damaging Het
Ubxn7 C A 16: 32,151,117 (GRCm39) H4Q unknown Het
Usp40 C T 1: 87,908,731 (GRCm39) R590H probably benign Het
Vmn1r90 A G 7: 14,296,011 (GRCm39) M22T possibly damaging Het
Vmn2r1 G A 3: 64,012,538 (GRCm39) V800M possibly damaging Het
Vps11 A T 9: 44,267,673 (GRCm39) I313N probably damaging Het
Zhx1 A G 15: 57,918,207 (GRCm39) V13A probably damaging Het
Zic4 G A 9: 91,260,805 (GRCm39) R20H probably benign Het
Zp3r C T 1: 130,510,616 (GRCm39) V369M 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
R5238:Cldn19 UTSW 4 119,112,930 (GRCm39) missense probably damaging 1.00
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'- CTTCAGGCTTCTACCCAAGC -3'
(R):5'- AAGTAGGGAAGCTCAGCTCTG -3'

Sequencing Primer
(F):5'- TCTACCCAAGCCCTTCCACG -3'
(R):5'- AAGCTCAGCTCTGCCTGG -3'
Posted On 2016-11-08