Incidental Mutation 'R9426:Cldnd2'
ID 712626
Institutional Source Beutler Lab
Gene Symbol Cldnd2
Ensembl Gene ENSMUSG00000038973
Gene Name claudin domain containing 2
Synonyms 1700071E18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43090206-43092758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43092688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 160 (I160F)
Ref Sequence ENSEMBL: ENSMUSP00000037980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004729] [ENSMUST00000040227] [ENSMUST00000203633] [ENSMUST00000204680] [ENSMUST00000206196] [ENSMUST00000206286] [ENSMUST00000206839]
AlphaFold Q9D9H2
Predicted Effect probably benign
Transcript: ENSMUST00000004729
SMART Domains Protein: ENSMUSP00000004729
Gene: ENSMUSG00000004610

DomainStartEndE-ValueType
ETF 26 218 4.15e-67 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000040227
AA Change: I160F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037980
Gene: ENSMUSG00000038973
AA Change: I160F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 147 2.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203633
SMART Domains Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482

DomainStartEndE-ValueType
ETF 26 216 2.7e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204680
SMART Domains Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482

DomainStartEndE-ValueType
ETF 26 168 2.4e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206196
Predicted Effect probably benign
Transcript: ENSMUST00000206286
Predicted Effect probably benign
Transcript: ENSMUST00000206411
Predicted Effect possibly damaging
Transcript: ENSMUST00000206839
AA Change: I160F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,851,264 (GRCm39) D2159G possibly damaging Het
Adamts8 A G 9: 30,864,721 (GRCm39) Y404C possibly damaging Het
Adprhl1 A G 8: 13,274,034 (GRCm39) F908S possibly damaging Het
Arhgef16 A C 4: 154,366,300 (GRCm39) L489R probably damaging Het
Asmt G A X: 169,110,199 (GRCm39) G236E probably damaging Het
Ces2e A G 8: 105,656,220 (GRCm39) Y177C probably damaging Het
Cfap43 A G 19: 47,814,237 (GRCm39) I199T probably damaging Het
Chac1 T A 2: 119,183,914 (GRCm39) F172Y possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Coq10b C G 1: 55,106,719 (GRCm39) L175V possibly damaging Het
Cpne6 T C 14: 55,751,176 (GRCm39) probably null Het
Dnai4 A T 4: 102,906,743 (GRCm39) I690N probably damaging Het
Eif2b3 C A 4: 116,923,578 (GRCm39) Y264* probably null Het
Fcgbpl1 A T 7: 27,843,281 (GRCm39) H723L possibly damaging Het
Fhod1 C T 8: 106,056,490 (GRCm39) R1100Q probably benign Het
Hao1 T A 2: 134,347,555 (GRCm39) H250L probably benign Het
Has3 A G 8: 107,600,823 (GRCm39) Y95C probably damaging Het
Hoxc10 A T 15: 102,879,289 (GRCm39) K270* probably null Het
Kcnq5 A G 1: 21,473,118 (GRCm39) F710L probably benign Het
Knl1 C T 2: 118,899,979 (GRCm39) T560I possibly damaging Het
Ltbp1 C T 17: 75,598,309 (GRCm39) R597W possibly damaging Het
Nfib T G 4: 82,416,529 (GRCm39) T170P probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Optn T A 2: 5,059,485 (GRCm39) E11V possibly damaging Het
Or4d2b A T 11: 87,780,056 (GRCm39) L222Q probably damaging Het
Phf3 A T 1: 30,870,625 (GRCm39) L141* probably null Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prkcg C T 7: 3,375,975 (GRCm39) S540F probably damaging Het
Ptbp1 T A 10: 79,694,897 (GRCm39) I75N probably damaging Het
R3hdm1 T C 1: 128,164,212 (GRCm39) L1042P probably damaging Het
Scmh1 T C 4: 120,362,556 (GRCm39) V264A probably benign Het
Sec23a A G 12: 59,053,890 (GRCm39) V36A probably benign Het
Senp2 A G 16: 21,828,491 (GRCm39) S34G probably damaging Het
Serpina3a A G 12: 104,087,649 (GRCm39) N191D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smchd1 C T 17: 71,672,125 (GRCm39) S1643N probably benign Het
Snrk T A 9: 121,986,326 (GRCm39) Y232N probably damaging Het
Spata31h1 T A 10: 82,126,610 (GRCm39) K2133N probably damaging Het
Spmip3 T A 1: 177,570,834 (GRCm39) L56* probably null Het
St6galnac6 T C 2: 32,505,094 (GRCm39) I202T probably damaging Het
Stab2 T C 10: 86,704,911 (GRCm39) K1819R probably damaging Het
Strn3 T C 12: 51,694,873 (GRCm39) T297A probably damaging Het
Sult1b1 T A 5: 87,665,280 (GRCm39) E218V probably damaging Het
Tcp10c T C 17: 13,584,463 (GRCm39) S275P probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Urb2 T G 8: 124,755,285 (GRCm39) L331V probably damaging Het
Zfp592 A T 7: 80,674,205 (GRCm39) T390S probably damaging Het
Other mutations in Cldnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02451:Cldnd2 APN 7 43,091,082 (GRCm39) missense probably benign 0.04
R1836:Cldnd2 UTSW 7 43,092,349 (GRCm39) missense possibly damaging 0.86
R4731:Cldnd2 UTSW 7 43,091,613 (GRCm39) missense possibly damaging 0.71
R4732:Cldnd2 UTSW 7 43,091,613 (GRCm39) missense possibly damaging 0.71
R4733:Cldnd2 UTSW 7 43,091,613 (GRCm39) missense possibly damaging 0.71
R7309:Cldnd2 UTSW 7 43,091,133 (GRCm39) missense possibly damaging 0.71
R7456:Cldnd2 UTSW 7 43,091,109 (GRCm39) missense not run
R7955:Cldnd2 UTSW 7 43,091,120 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AACTTCCAGTGACTTCCCCG -3'
(R):5'- GTTACAGGGTTCAAGTCTCCGTTC -3'

Sequencing Primer
(F):5'- CGCCCCTGCACTCCAAG -3'
(R):5'- GGGTTCAAGTCTCCGTTCCTACC -3'
Posted On 2022-05-16