Incidental Mutation 'R4907:Cldn22'
ID 379114
Institutional Source Beutler Lab
Gene Symbol Cldn22
Ensembl Gene ENSMUSG00000038064
Gene Name claudin 22
Synonyms 5330431C14Rik, 9530051B05Rik, 2210404A22Rik
MMRRC Submission 042509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4907 (G1)
Quality Score 129
Status Validated
Chromosome 8
Chromosomal Location 48277517-48278511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48277742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
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: V60A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000041676
Gene: ENSMUSG00000038064
AA Change: V60A

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
Meta Mutation Damage Score 0.1367 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 98% (89/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik G T 1: 57,422,350 (GRCm39) G242V probably damaging Het
4933412E24Rik T C 15: 59,887,957 (GRCm39) E161G probably benign Het
Abcc5 A G 16: 20,195,296 (GRCm39) S734P possibly damaging Het
Actn1 T G 12: 80,228,188 (GRCm39) H394P probably damaging Het
Adam8 A T 7: 139,569,286 (GRCm39) D144E probably benign Het
Ankrd50 A T 3: 38,510,824 (GRCm39) N514K probably damaging Het
Ankrd50 T A 3: 38,509,122 (GRCm39) K1082* probably null Het
Atp4a A G 7: 30,418,517 (GRCm39) I602V possibly damaging Het
Baz2a A G 10: 127,946,677 (GRCm39) T64A probably damaging Het
Btbd19 A G 4: 116,977,764 (GRCm39) probably benign Het
Casz1 T A 4: 149,028,998 (GRCm39) S1148T probably damaging Het
Ccdc18 T A 5: 108,284,007 (GRCm39) D103E probably benign Het
Cd209d T C 8: 3,927,948 (GRCm39) N52S probably benign Het
Cdh20 T A 1: 110,066,053 (GRCm39) Y776N probably damaging Het
Cdk14 A G 5: 5,299,140 (GRCm39) V101A probably damaging Het
Clec10a G A 11: 70,060,797 (GRCm39) G183D probably benign Het
Cnga3 T C 1: 37,281,023 (GRCm39) probably null Het
Cts3 A T 13: 61,714,634 (GRCm39) F224I probably benign Het
Dync2i2 A G 2: 29,922,472 (GRCm39) probably null Het
Fbxo40 A G 16: 36,790,064 (GRCm39) Y349H probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gm10029 A T 13: 6,712,592 (GRCm39) noncoding transcript Het
Gm14399 T A 2: 174,973,182 (GRCm39) probably benign Het
Gm9932 T C 5: 100,347,014 (GRCm39) noncoding transcript Het
Immp1l A G 2: 105,767,462 (GRCm39) Y107C probably damaging Het
Ism1 G T 2: 139,520,672 (GRCm39) G28V probably benign Het
Klf1 C A 8: 85,629,814 (GRCm39) S213* probably null Het
Krt12 T C 11: 99,309,188 (GRCm39) E329G probably damaging Het
Lama2 A T 10: 27,040,942 (GRCm39) N1460K probably benign Het
Llgl2 T A 11: 115,744,800 (GRCm39) Y932* probably null Het
Lrrc7 T C 3: 157,866,877 (GRCm39) I955V probably damaging Het
Ltbp1 A G 17: 75,312,899 (GRCm39) R7G probably benign Het
Mcm3ap A G 10: 76,329,275 (GRCm39) E1152G probably damaging Het
Mgam2-ps T C 6: 40,811,677 (GRCm39) noncoding transcript Het
Mical3 T A 6: 120,984,259 (GRCm39) M206L probably benign Het
Mndal T G 1: 173,690,256 (GRCm39) N358T probably damaging Het
Nckap5 A G 1: 125,953,889 (GRCm39) S824P possibly damaging Het
Ndufb2 T C 6: 39,573,554 (GRCm39) probably benign Het
Nfatc3 C A 8: 106,806,359 (GRCm39) H401Q probably damaging Het
Npas2 T C 1: 39,401,066 (GRCm39) V810A unknown Het
Nt5c2 A G 19: 46,884,978 (GRCm39) V245A possibly damaging Het
Or1j4 A T 2: 36,740,270 (GRCm39) I71F probably benign Het
Or4d5 A T 9: 40,011,955 (GRCm39) M277K probably benign Het
Or51ah3 A G 7: 103,210,241 (GRCm39) M186V possibly damaging Het
Or52h9 A G 7: 104,202,518 (GRCm39) R131G probably damaging Het
Or5b109 A G 19: 13,212,157 (GRCm39) D181G probably damaging Het
Otof A T 5: 30,536,005 (GRCm39) probably null Het
Pck1 C T 2: 172,998,816 (GRCm39) T358I probably damaging Het
Pclo T C 5: 14,730,065 (GRCm39) probably benign Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pgr G A 9: 8,947,044 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,367,475 (GRCm39) V1224E probably damaging Het
Pkd2l1 A G 19: 44,142,581 (GRCm39) V487A possibly damaging Het
Pkhd1 T C 1: 20,279,450 (GRCm39) D2956G probably damaging Het
Rexo2 A T 9: 48,390,703 (GRCm39) probably null Het
Rgs22 T A 15: 36,087,570 (GRCm39) L573F possibly damaging Het
Rufy3 T G 5: 88,732,051 (GRCm39) I18S possibly damaging Het
Slc30a9 T C 5: 67,503,505 (GRCm39) L393P probably damaging Het
Snw1 T C 12: 87,506,259 (GRCm39) I214V probably benign Het
Sorbs1 G A 19: 40,328,491 (GRCm39) Q595* probably null Het
Spata21 T A 4: 140,824,432 (GRCm39) probably null Het
Ss18l1 G T 2: 179,705,192 (GRCm39) probably null Het
Tmem163 A T 1: 127,447,107 (GRCm39) L176H probably damaging Het
Tpd52 T C 3: 9,009,668 (GRCm39) probably null Het
Tpsab1 T A 17: 25,562,436 (GRCm39) Y297F possibly damaging Het
Trim55 A G 3: 19,728,538 (GRCm39) T450A probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Txndc11 A T 16: 10,906,398 (GRCm39) H377Q probably benign Het
Usp17la A G 7: 104,510,355 (GRCm39) Y320C probably damaging Het
Vmn2r109 T C 17: 20,770,348 (GRCm39) N547D probably damaging Het
Vmn2r54 A T 7: 12,350,150 (GRCm39) probably null Het
Wdr33 T C 18: 32,040,046 (GRCm39) *1331Q probably null Het
Wdr90 T A 17: 26,079,624 (GRCm39) probably benign Het
Xpo7 T C 14: 70,908,069 (GRCm39) M903V probably benign Het
Zfhx3 T A 8: 109,519,986 (GRCm39) S369R probably damaging Het
Zfp808 T C 13: 62,319,287 (GRCm39) F172S possibly damaging Het
Zfp821 A G 8: 110,450,625 (GRCm39) E55G probably benign Het
Zfp964 T C 8: 70,115,972 (GRCm39) Y191H possibly damaging Het
Zfyve1 T C 12: 83,621,646 (GRCm39) T250A probably damaging 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
R7925:Cldn22 UTSW 8 48,278,222 (GRCm39) missense probably benign 0.16
R9720:Cldn22 UTSW 8 48,277,786 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AATGGGCTTAGTCTTCCGAAC -3'
(R):5'- GGAACTAGCACCATGACTCC -3'

Sequencing Primer
(F):5'- GCTTAGTCTTCCGAACGGCAAC -3'
(R):5'- ATGACTCCCGAGGTCCAGAG -3'
Posted On 2016-04-15