Incidental Mutation 'R7955:Cldnd2'
ID 649766
Institutional Source Beutler Lab
Gene Symbol Cldnd2
Ensembl Gene ENSMUSG00000038973
Gene Name claudin domain containing 2
Synonyms 1700071E18Rik
MMRRC Submission 045999-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7955 (G1)
Quality Score 203.009
Status Validated
Chromosome 7
Chromosomal Location 43090206-43092758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43091120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 17 (L17F)
Ref Sequence ENSEMBL: ENSMUSP00000037980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004729] [ENSMUST00000040227] [ENSMUST00000070518] [ENSMUST00000203633] [ENSMUST00000204680] [ENSMUST00000206196] [ENSMUST00000206286] [ENSMUST00000206741] [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: L17F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037980
Gene: ENSMUSG00000038973
AA Change: L17F

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 147 2.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070518
SMART Domains Protein: ENSMUSP00000068946
Gene: ENSMUSG00000004612

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 150 5e-14 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 probably benign
Transcript: ENSMUST00000206741
Predicted Effect possibly damaging
Transcript: ENSMUST00000206839
AA Change: L17F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,764,613 (GRCm39) V711D probably damaging Het
Adgrg5 G A 8: 95,664,325 (GRCm39) V312M Het
Ankrd53 A G 6: 83,744,845 (GRCm39) T352A probably benign Het
Ano4 T A 10: 88,831,088 (GRCm39) M512L probably null Het
AW551984 A G 9: 39,507,960 (GRCm39) F392S probably damaging Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Clvs2 T C 10: 33,471,808 (GRCm39) N166D possibly damaging Het
Cox10 A T 11: 63,884,750 (GRCm39) N218K probably benign Het
Crygs C T 16: 22,624,082 (GRCm39) R175H probably damaging Het
Daxx T A 17: 34,131,229 (GRCm39) Y385* probably null Het
Dnmbp T C 19: 43,890,762 (GRCm39) E335G probably benign Het
Erich3 C T 3: 154,444,951 (GRCm39) Q376* probably null Het
Flot2 A G 11: 77,949,769 (GRCm39) probably null Het
Ganc A G 2: 120,261,181 (GRCm39) T289A probably damaging Het
Gm19668 G A 10: 77,634,630 (GRCm39) T113I unknown Het
Gpm6a A G 8: 55,511,840 (GRCm39) N238S probably damaging Het
Hps1 T C 19: 42,759,221 (GRCm39) T124A probably damaging Het
Larp4b T C 13: 9,186,816 (GRCm39) V48A probably benign Het
Magi2 A G 5: 20,594,070 (GRCm39) H205R probably damaging Het
Map2 T A 1: 66,452,875 (GRCm39) S588R probably damaging Het
Mocos A G 18: 24,799,216 (GRCm39) D150G probably damaging Het
Msl2 A G 9: 100,979,354 (GRCm39) D576G possibly damaging Het
Mybpc3 A G 2: 90,956,401 (GRCm39) probably null Het
Myo3b A T 2: 69,925,623 (GRCm39) Y58F probably benign Het
Ndst3 T G 3: 123,400,586 (GRCm39) K440T probably benign Het
Ndst4 T A 3: 125,231,831 (GRCm39) Y133* probably null Het
Nrcam G A 12: 44,631,737 (GRCm39) V1097M probably benign Het
Or6z1 A G 7: 6,505,078 (GRCm39) I49T possibly damaging Het
Rabep1 A G 11: 70,808,267 (GRCm39) T408A probably damaging Het
Rims1 A T 1: 22,507,322 (GRCm39) D609E probably damaging Het
Sh2d4a A G 8: 68,781,907 (GRCm39) K172E probably benign Het
Slc12a9 A C 5: 137,323,808 (GRCm39) L369R probably damaging Het
Slc30a1 T C 1: 191,639,395 (GRCm39) C93R probably damaging Het
Tex35 C T 1: 156,927,742 (GRCm39) D143N probably damaging Het
Tgm3 A T 2: 129,880,400 (GRCm39) Y402F probably benign Het
Tmem17 T A 11: 22,468,490 (GRCm39) I143K possibly damaging Het
Tmprss11f A C 5: 86,692,682 (GRCm39) S81A probably benign Het
Trp53bp1 G A 2: 121,066,225 (GRCm39) P834S possibly damaging Het
Trpm4 C A 7: 44,968,683 (GRCm39) G417W probably damaging Het
Trpm6 A T 19: 18,831,654 (GRCm39) R1506S probably benign Het
Tspan18 A G 2: 93,040,305 (GRCm39) V150A possibly damaging Het
Ttc39d T C 17: 80,523,352 (GRCm39) F4L probably benign Het
Zdhhc4 A T 5: 143,307,619 (GRCm39) L134H probably damaging Het
Zfp407 A T 18: 84,577,416 (GRCm39) S1232R probably benign Het
Zswim2 A C 2: 83,747,227 (GRCm39) F353V probably benign 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
R9426:Cldnd2 UTSW 7 43,092,688 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GTTGAGGTTGCCAGGCAA -3'
(R):5'- AAAGGACATCTGGGTCTGCG -3'

Sequencing Primer
(F):5'- TACCTGTGATGTCCTTGG -3'
(R):5'- AAGGCCCATCTGGAGCTAG -3'
Posted On 2020-09-15