Incidental Mutation 'R7688:Cldn24'
ID 593213
Institutional Source Beutler Lab
Gene Symbol Cldn24
Ensembl Gene ENSMUSG00000061974
Gene Name claudin 24
Synonyms Gm10107
MMRRC Submission 045752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R7688 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 48275178-48275840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48275740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 188 (C188Y)
Ref Sequence ENSEMBL: ENSMUSP00000078584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038693] [ENSMUST00000057561] [ENSMUST00000079639]
AlphaFold D3YXJ9
Predicted Effect probably benign
Transcript: ENSMUST00000038693
SMART Domains Protein: ENSMUSP00000041676
Gene: ENSMUSG00000038064

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 183 6.2e-23 PFAM
Pfam:Claudin_2 18 184 1.8e-9 PFAM
low complexity region 185 197 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057561
SMART Domains Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563

DomainStartEndE-ValueType
WW 11 43 3.92e-11 SMART
WW 58 90 4.65e-4 SMART
low complexity region 143 156 N/A INTRINSIC
coiled coil region 162 194 N/A INTRINSIC
coiled coil region 223 254 N/A INTRINSIC
coiled coil region 302 333 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
coiled coil region 359 423 N/A INTRINSIC
low complexity region 540 567 N/A INTRINSIC
C2 713 818 5.29e0 SMART
coiled coil region 857 884 N/A INTRINSIC
coiled coil region 1067 1144 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000079639
AA Change: C188Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078584
Gene: ENSMUSG00000061974
AA Change: C188Y

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 183 9.1e-25 PFAM
Pfam:Claudin_2 18 184 2.2e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
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. The protein encoded by this gene is 75% identical to the human homolog. Similar to the human gene, this gene is upstream of the Cldn22 gene, which overlaps the Wwc2 gene on the opposite strand. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bag6 T C 17: 35,365,868 (GRCm39) Y1102H probably damaging Het
Dennd4c T C 4: 86,713,377 (GRCm39) W443R probably damaging Het
Dmxl1 T A 18: 50,088,938 (GRCm39) C2806S probably benign Het
Epb41l2 T C 10: 25,355,036 (GRCm39) Y449H probably damaging Het
Ets1 T A 9: 32,607,720 (GRCm39) I14N probably benign Het
F11 A T 8: 45,703,127 (GRCm39) F188I probably damaging Het
Fam13a C T 6: 58,912,692 (GRCm39) V654I probably benign Het
Flt1 C T 5: 147,613,135 (GRCm39) V369I probably benign Het
Focad T A 4: 88,096,370 (GRCm39) Y251N probably damaging Het
Gm5150 A G 3: 16,017,747 (GRCm39) S175P probably benign Het
Hnrnpul2 T A 19: 8,797,994 (GRCm39) S117T probably benign Het
Kcnj5 A G 9: 32,234,264 (GRCm39) V17A probably benign Het
Kctd1 T G 18: 15,107,255 (GRCm39) T737P probably benign Het
Kif14 T C 1: 136,422,392 (GRCm39) V894A probably damaging Het
Klhl12 A T 1: 134,416,768 (GRCm39) T497S probably benign Het
Klhl6 C A 16: 19,765,881 (GRCm39) V574L probably damaging Het
Lama1 A T 17: 68,068,623 (GRCm39) D774V Het
Leng1 G A 7: 3,665,809 (GRCm39) P176L probably benign Het
Lig1 T C 7: 13,023,389 (GRCm39) L196P probably benign Het
Macrod1 C A 19: 7,174,230 (GRCm39) Y245* probably null Het
Mcf2l T A 8: 12,998,130 (GRCm39) I6N possibly damaging Het
Megf11 A G 9: 64,599,146 (GRCm39) D687G possibly damaging Het
Muc4 A T 16: 32,570,278 (GRCm39) H446L possibly damaging Het
Oasl2 A T 5: 115,035,909 (GRCm39) I62F probably benign Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Or14a257 A G 7: 86,138,183 (GRCm39) V192A probably benign Het
Or4b12 A T 2: 90,095,959 (GRCm39) F272I probably damaging Het
Or52e8 C A 7: 104,624,332 (GRCm39) A291S possibly damaging Het
Pdcl2 T C 5: 76,465,770 (GRCm39) N150S probably benign Het
Pfkfb3 A G 2: 11,497,450 (GRCm39) Y54H probably damaging Het
Rab25 A T 3: 88,452,270 (GRCm39) probably null Het
Slc22a18 G A 7: 143,033,560 (GRCm39) G104S probably damaging Het
Slc44a5 T A 3: 153,679,437 (GRCm39) probably null Het
Slc5a8 A G 10: 88,757,561 (GRCm39) Y517C probably damaging Het
Spata18 A G 5: 73,809,005 (GRCm39) N26S probably benign Het
Tas2r115 T A 6: 132,714,643 (GRCm39) S103C probably damaging Het
Tigd2 T A 6: 59,187,382 (GRCm39) M83K probably damaging Het
Tnxb T A 17: 34,890,880 (GRCm39) C408S probably benign Het
Trbj2-3 T A 6: 41,520,159 (GRCm39) S1R possibly damaging Het
Triobp T C 15: 78,845,311 (GRCm39) probably null Het
Uaca A G 9: 60,781,409 (GRCm39) Q1349R probably benign Het
Ube2j2 T A 4: 156,040,885 (GRCm39) L171I probably damaging Het
Usp17ld C A 7: 102,899,982 (GRCm39) G317W probably damaging Het
Vinac1 G A 2: 128,880,964 (GRCm39) Q321* probably null Het
Vmn2r72 T A 7: 85,404,098 (GRCm39) D31V probably benign Het
Zfp317 T G 9: 19,559,251 (GRCm39) H488Q probably damaging Het
Other mutations in Cldn24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2252:Cldn24 UTSW 8 48,275,363 (GRCm39) missense probably benign 0.44
R2253:Cldn24 UTSW 8 48,275,363 (GRCm39) missense probably benign 0.44
R2309:Cldn24 UTSW 8 48,275,774 (GRCm39) nonsense probably null
R6265:Cldn24 UTSW 8 48,275,374 (GRCm39) missense probably benign 0.00
R6818:Cldn24 UTSW 8 48,275,757 (GRCm39) missense probably benign 0.03
R8891:Cldn24 UTSW 8 48,275,281 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTCATGGTGCTAGTTCCTGTC -3'
(R):5'- TTGGACAATCCCCAGCATAC -3'

Sequencing Primer
(F):5'- GCTAGTTCCTGTCTCCTGGG -3'
(R):5'- TTTCCACACATAGCTATGCAATG -3'
Posted On 2019-11-12