Incidental Mutation 'R9720:Cldn22'
ID 730723
Institutional Source Beutler Lab
Gene Symbol Cldn22
Ensembl Gene ENSMUSG00000038064
Gene Name claudin 22
Synonyms 5330431C14Rik, 9530051B05Rik, 2210404A22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R9720 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 48277517-48278511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48277786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 75 (A75T)
Ref Sequence ENSEMBL: ENSMUSP00000041676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038693] [ENSMUST00000057561] [ENSMUST00000079639]
AlphaFold Q9D7U6
Predicted Effect probably benign
Transcript: ENSMUST00000038693
AA Change: A75T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000041676
Gene: ENSMUSG00000038064
AA Change: A75T

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
SMART Domains Protein: ENSMUSP00000078584
Gene: ENSMUSG00000061974

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: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
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. This gene is intronless and overlaps the 3' UTR of the Wwc2 gene (GeneID: 52357) on the opposite strand. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,154,183 (GRCm39) V968G probably damaging Het
Adam33 A G 2: 130,900,236 (GRCm39) V110A Het
Adamts2 T C 11: 50,666,954 (GRCm39) M417T probably damaging Het
Adgrv1 A G 13: 81,740,693 (GRCm39) I145T probably damaging Het
Ampd3 C A 7: 110,377,056 (GRCm39) H16N probably benign Het
Ank3 A T 10: 69,825,335 (GRCm39) S1335C Het
Ankrd26 G A 6: 118,498,902 (GRCm39) S1208L probably damaging Het
Atmin G A 8: 117,681,653 (GRCm39) probably null Het
AU018091 T C 7: 3,209,272 (GRCm39) T323A probably benign Het
Barx2 A G 9: 31,765,407 (GRCm39) probably null Het
Bltp3b T A 10: 89,641,219 (GRCm39) S797T probably benign Het
Brpf3 A G 17: 29,026,330 (GRCm39) I468V probably benign Het
Cacna1g T A 11: 94,302,297 (GRCm39) H1985L probably benign Het
Cass4 T C 2: 172,269,568 (GRCm39) V550A probably benign Het
Ccdc88a A G 11: 29,413,813 (GRCm39) S784G probably benign Het
Cd300ld2 C T 11: 114,903,118 (GRCm39) probably null Het
Cgn G A 3: 94,686,621 (GRCm39) A227V probably benign Het
Clcn7 G T 17: 25,374,471 (GRCm39) R524L probably damaging Het
Ddb1 A G 19: 10,585,724 (GRCm39) D146G probably benign Het
Dhx32 C A 7: 133,324,857 (GRCm39) E607* probably null Het
Egfem1 A G 3: 29,716,580 (GRCm39) Y350C probably damaging Het
Eri2 T A 7: 119,386,976 (GRCm39) D181V probably damaging Het
Gabrg2 T C 11: 41,862,673 (GRCm39) N137S probably damaging Het
Gar1 C T 3: 129,620,497 (GRCm39) G197S unknown Het
Ggta1 G T 2: 35,303,418 (GRCm39) D91E probably benign Het
Hap1 T A 11: 100,246,696 (GRCm39) I70F probably benign Het
Hars2 A G 18: 36,920,607 (GRCm39) Y150C probably damaging Het
Igsf9b G A 9: 27,220,810 (GRCm39) V59I probably damaging Het
Il15 T G 8: 83,058,608 (GRCm39) K142Q probably damaging Het
Klhl23 T C 2: 69,654,804 (GRCm39) Y225H possibly damaging Het
Krt6b T A 15: 101,588,226 (GRCm39) I145F probably benign Het
Lgals3bp T A 11: 118,284,083 (GRCm39) T499S probably benign Het
Lrriq4 A G 3: 30,714,077 (GRCm39) N490S probably damaging Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mical3 A G 6: 120,935,238 (GRCm39) S1763P probably damaging Het
Ncoa6 A G 2: 155,250,304 (GRCm39) V1000A probably damaging Het
Nefm A G 14: 68,358,793 (GRCm39) S414P probably benign Het
Nphs1 T C 7: 30,165,499 (GRCm39) V622A possibly damaging Het
Or6c76 T C 10: 129,612,581 (GRCm39) V281A probably benign Het
Or6d14 T C 6: 116,534,016 (GRCm39) V210A possibly damaging Het
Pde4dip T C 3: 97,603,287 (GRCm39) D2234G probably damaging Het
Pde6c A T 19: 38,157,887 (GRCm39) Y637F probably benign Het
Pigg T A 5: 108,467,800 (GRCm39) C266* probably null Het
Pkdrej A T 15: 85,702,497 (GRCm39) D1146E possibly damaging Het
Pkp2 T C 16: 16,087,584 (GRCm39) V756A probably benign Het
Pole C T 5: 110,484,909 (GRCm39) T2245I probably benign Het
Ppm1g A C 5: 31,360,914 (GRCm39) probably null Het
Ppp1r36 A G 12: 76,485,298 (GRCm39) I340M possibly damaging Het
Pvr G A 7: 19,643,121 (GRCm39) R371* probably null Het
Rassf9 G A 10: 102,348,369 (GRCm39) probably benign Het
Rtl1 A C 12: 109,559,882 (GRCm39) N652K possibly damaging Het
Sall4 G C 2: 168,592,160 (GRCm39) S998C probably damaging Het
Sdk1 T C 5: 142,197,796 (GRCm39) Y2150H probably damaging Het
Serpinb3b A T 1: 107,083,669 (GRCm39) I170K probably benign Het
Shank2 A T 7: 143,682,137 (GRCm39) D390V probably damaging Het
Slc39a4 A G 15: 76,500,930 (GRCm39) V11A probably benign Het
Synj2 C T 17: 6,040,584 (GRCm39) T220I probably benign Het
Taar7a A G 10: 23,868,733 (GRCm39) I216T probably benign Het
Tas2r122 G T 6: 132,688,634 (GRCm39) D86E probably benign Het
Tbxa2r T A 10: 81,169,018 (GRCm39) C236S probably benign Het
Trav13d-4 C A 14: 53,995,286 (GRCm39) T80K probably benign Het
Trav6d-5 T A 14: 53,033,077 (GRCm39) C109S probably damaging Het
Trio A G 15: 27,847,495 (GRCm39) M982T probably benign Het
Unc80 A T 1: 66,683,485 (GRCm39) T2176S possibly damaging Het
Ypel1 T C 16: 16,910,890 (GRCm39) T259A probably damaging Het
Zfp120 A T 2: 149,959,197 (GRCm39) I397K probably benign Het
Other mutations in Cldn22
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB002:Cldn22 UTSW 8 48,278,222 (GRCm39) missense probably benign 0.16
BB012:Cldn22 UTSW 8 48,278,222 (GRCm39) missense probably benign 0.16
R0103:Cldn22 UTSW 8 48,277,589 (GRCm39) missense probably benign
R0103:Cldn22 UTSW 8 48,277,589 (GRCm39) missense probably benign
R4907:Cldn22 UTSW 8 48,277,742 (GRCm39) missense probably benign 0.03
R7925:Cldn22 UTSW 8 48,278,222 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGGGCTTAGTCTTCCGAACG -3'
(R):5'- GGAACTAGCACCATGACTCC -3'

Sequencing Primer
(F):5'- GCTTAGTCTTCCGAACGGCAAC -3'
(R):5'- ATGACTCCCGAGGTCCAGAG -3'
Posted On 2022-10-06