Incidental Mutation 'R2253:Cldn24'
ID 241815
Institutional Source Beutler Lab
Gene Symbol Cldn24
Ensembl Gene ENSMUSG00000061974
Gene Name claudin 24
Synonyms Gm10107
MMRRC Submission 040253-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R2253 (G1)
Quality Score 92
Status Not validated
Chromosome 8
Chromosomal Location 48275178-48275840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48275363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 62 (R62S)
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 benign
Transcript: ENSMUST00000079639
AA Change: R62S

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000078584
Gene: ENSMUSG00000061974
AA Change: R62S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 183 9.1e-25 PFAM
Pfam:Claudin_2 18 184 2.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212295
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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. 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
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acss3 G A 10: 106,840,609 (GRCm39) A384V probably damaging Het
Aff2 G A X: 68,878,409 (GRCm39) E732K possibly damaging Het
Atp12a A G 14: 56,613,715 (GRCm39) T496A probably benign Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
Bptf G T 11: 107,002,148 (GRCm39) D321E probably damaging Het
C1ql3 C T 2: 13,015,130 (GRCm39) V177I possibly damaging Het
C2cd5 A T 6: 142,982,042 (GRCm39) Y607* probably null Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd248 A G 19: 5,118,154 (GRCm39) M1V probably null Het
Cdh18 A G 15: 23,410,891 (GRCm39) T405A probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Gch1 T C 14: 47,426,798 (GRCm39) probably benign Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kank4 A T 4: 98,667,463 (GRCm39) I328N probably damaging Het
Krt9 A T 11: 100,081,685 (GRCm39) N281K possibly damaging Het
Lgals12 T A 19: 7,584,130 (GRCm39) probably benign Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Mbtps2 A T X: 156,342,029 (GRCm39) F270L probably benign Het
Nr3c1 G T 18: 39,619,804 (GRCm39) T161K probably benign Het
Or2w3b T C 11: 58,623,821 (GRCm39) T57A probably benign Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or5b116 T C 19: 13,422,549 (GRCm39) Y58H probably damaging Het
Pla2g4d T C 2: 120,101,622 (GRCm39) K453E probably damaging Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Prl3d1 T C 13: 27,278,981 (GRCm39) Y59H possibly damaging Het
Rnf133 T C 6: 23,649,174 (GRCm39) M252V probably benign Het
Rnf181 G T 6: 72,338,467 (GRCm39) H14N possibly damaging Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc13a4 A G 6: 35,257,418 (GRCm39) V240A probably benign Het
Slc2a5 T C 4: 150,224,447 (GRCm39) Y315H possibly damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spib A G 7: 44,179,392 (GRCm39) S23P probably benign Het
Tbc1d1 A G 5: 64,442,143 (GRCm39) N721S probably benign Het
Tcf25 A G 8: 124,100,772 (GRCm39) E54G probably benign Het
Tesl2 G A X: 23,824,950 (GRCm39) A75V probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba7 A G 9: 107,853,563 (GRCm39) H131R probably benign Het
Vmn2r6 C T 3: 64,467,139 (GRCm39) C120Y probably damaging Het
Zdhhc18 A T 4: 133,360,388 (GRCm39) probably null Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Cldn24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2252: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
R7688:Cldn24 UTSW 8 48,275,740 (GRCm39) missense probably damaging 1.00
R8891:Cldn24 UTSW 8 48,275,281 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTTCATCTTCAGAACGGCCATG -3'
(R):5'- GGAACTAGCACCATGACTCC -3'

Sequencing Primer
(F):5'- CATGCAATCAGTAGGGCTTTC -3'
(R):5'- ATGACTCCCGAGGTCCAGAG -3'
Posted On 2014-10-16