Incidental Mutation 'R8891:Cldn24'
ID 677689
Institutional Source Beutler Lab
Gene Symbol Cldn24
Ensembl Gene ENSMUSG00000061974
Gene Name claudin 24
Synonyms Gm10107
MMRRC Submission 068753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R8891 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 48275178-48275840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48275281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 35 (N35I)
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: N35I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000078584
Gene: ENSMUSG00000061974
AA Change: N35I

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: 99.8%
  • 20x: 99.4%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,520 (GRCm39) K570* probably null Het
Abi1 T C 2: 22,861,262 (GRCm39) I99V probably damaging Het
Abtb3 G A 10: 85,223,958 (GRCm39) G256R unknown Het
Adgrg7 T A 16: 56,572,762 (GRCm39) E351D probably benign Het
Ankrd34c T G 9: 89,612,143 (GRCm39) K66T probably damaging Het
Asap2 C T 12: 21,162,144 (GRCm39) R34W probably damaging Het
Atr A G 9: 95,787,813 (GRCm39) T1469A probably benign Het
Ccdc168 T C 1: 44,096,284 (GRCm39) I1605V probably benign Het
Celsr1 G T 15: 85,822,194 (GRCm39) R1708S probably benign Het
Chmp2a T A 7: 12,767,840 (GRCm39) E28D probably benign Het
Coa6 G C 8: 127,149,570 (GRCm39) probably null Het
Copa C T 1: 171,946,818 (GRCm39) R1009C probably damaging Het
Crybb2 G A 5: 113,209,913 (GRCm39) T150M possibly damaging Het
Ctnnd2 A T 15: 30,620,076 (GRCm39) T143S probably benign Het
Eid3 A G 10: 82,702,992 (GRCm39) N151S probably damaging Het
Fbxo17 G T 7: 28,434,733 (GRCm39) V173L possibly damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Galntl6 T C 8: 58,415,433 (GRCm39) N240S probably damaging Het
Gck G T 11: 5,851,733 (GRCm39) S445R probably damaging Het
Gm5114 C A 7: 39,057,718 (GRCm39) V634F probably benign Het
Gnat2 G A 3: 108,005,634 (GRCm39) D200N Het
H13 A G 2: 152,546,049 (GRCm39) N390S probably benign Het
Helz T A 11: 107,552,842 (GRCm39) M1206K probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kank1 G A 19: 25,387,439 (GRCm39) G371R probably benign Het
Kif13b A G 14: 64,982,326 (GRCm39) T513A probably damaging Het
L3mbtl4 T C 17: 68,762,781 (GRCm39) S105P possibly damaging Het
Lpo T A 11: 87,697,848 (GRCm39) E653V probably benign Het
Lyst A G 13: 13,887,435 (GRCm39) D3088G possibly damaging Het
Man2b1 C A 8: 85,811,084 (GRCm39) H72N probably damaging Het
Mast3 A T 8: 71,233,801 (GRCm39) H981Q probably damaging Het
Meioc T A 11: 102,559,246 (GRCm39) I56N probably benign Het
Mul1 A C 4: 138,162,164 (GRCm39) K32Q probably benign Het
Oas1c C T 5: 120,946,126 (GRCm39) S124N probably benign Het
Omg T A 11: 79,393,829 (GRCm39) K10* probably null Het
Or2a52 A G 6: 43,144,750 (GRCm39) I253V probably benign Het
Or4k52 A T 2: 111,611,186 (GRCm39) I174F probably damaging Het
Or6c88 A G 10: 129,407,046 (GRCm39) H174R probably damaging Het
Pcdhb14 T A 18: 37,582,692 (GRCm39) N599K probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Phf7 C A 14: 30,971,613 (GRCm39) probably benign Het
Pramel15 C T 4: 144,099,397 (GRCm39) C456Y probably damaging Het
Qdpr T C 5: 45,604,982 (GRCm39) N42S probably damaging Het
Rbm44 T A 1: 91,090,136 (GRCm39) D716E probably benign Het
Rprd2 A C 3: 95,671,367 (GRCm39) H1345Q possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 G A 13: 11,814,768 (GRCm39) A668V probably damaging Het
Sag T A 1: 87,759,683 (GRCm39) L307Q probably damaging Het
Sash1 G A 10: 8,603,734 (GRCm39) P1106L probably damaging Het
Sec16b T A 1: 157,382,409 (GRCm39) I615N probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slco1b2 T C 6: 141,628,993 (GRCm39) V600A probably benign Het
Sucnr1 A G 3: 59,994,263 (GRCm39) T264A probably benign Het
Tbx3 A G 5: 119,809,983 (GRCm39) probably benign Het
Tigd5 T C 15: 75,783,069 (GRCm39) V477A possibly damaging Het
Tle7 T A 8: 110,836,763 (GRCm39) S216R possibly damaging Het
Ttc17 G A 2: 94,192,764 (GRCm39) A89V probably damaging Het
Twsg1 A G 17: 66,255,657 (GRCm39) I39T Het
Zfp184 T C 13: 22,143,512 (GRCm39) F406S probably damaging Het
Zfp429 A T 13: 67,538,830 (GRCm39) C205S probably damaging Het
Zfp59 T A 7: 27,554,313 (GRCm39) D588E probably benign Het
Zfp64 A T 2: 168,797,083 (GRCm39) M1K probably null 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
R7688:Cldn24 UTSW 8 48,275,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCATTACGCCACTGTCAAC -3'
(R):5'- GTGTCTCTCCAAGCCTCAAG -3'

Sequencing Primer
(F):5'- CTGTCAACCACAAGGGACGG -3'
(R):5'- CCTCAAGCAGTCCAGGC -3'
Posted On 2021-08-02