Incidental Mutation 'IGL01067:Gjb2'
ID 52648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb2
Ensembl Gene ENSMUSG00000046352
Gene Name gap junction protein, beta 2
Synonyms connexin 26, Cx26, Gjb-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01067
Quality Score
Status
Chromosome 14
Chromosomal Location 57336059-57342159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57337629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 193 (V193A)
Ref Sequence ENSEMBL: ENSMUSP00000054343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055698]
AlphaFold Q00977
Predicted Effect possibly damaging
Transcript: ENSMUST00000055698
AA Change: V193A

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054343
Gene: ENSMUSG00000046352
AA Change: V193A

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 8.35e-40 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mutant homozygotes are developmentally retarded with impaired transplacental nutrient/glucose uptake and die about embryonic day 11. Conditional mutants in inner ear are hearing impaired with cell death in cochlear epithelial network and inner hair cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
A330008L17Rik T C 8: 100,148,586 (GRCm39) noncoding transcript Het
Acp4 C T 7: 43,902,876 (GRCm39) V331I probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Alg6 T C 4: 99,629,807 (GRCm39) V128A probably benign Het
Ank3 A G 10: 69,686,026 (GRCm39) K280E probably damaging Het
Bfar T C 16: 13,503,105 (GRCm39) C36R probably damaging Het
Car14 A G 3: 95,806,128 (GRCm39) I311T probably damaging Het
Cd300c T C 11: 114,851,253 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,096 (GRCm39) E513V probably damaging Het
Clip1 C A 5: 123,768,867 (GRCm39) K612N probably damaging Het
Depdc5 A G 5: 33,056,411 (GRCm39) probably null Het
Dock3 A T 9: 106,959,572 (GRCm39) probably null Het
Dph6 A T 2: 114,478,290 (GRCm39) M17K probably damaging Het
Enkur T C 2: 21,194,042 (GRCm39) Q177R probably benign Het
Faap100 T C 11: 120,262,958 (GRCm39) H800R probably damaging Het
Fastkd2 T G 1: 63,776,930 (GRCm39) probably benign Het
Fcgr2b A T 1: 170,795,622 (GRCm39) N102K possibly damaging Het
Fezf1 C T 6: 23,247,842 (GRCm39) V78I possibly damaging Het
Fmn2 A T 1: 174,330,885 (GRCm39) D425V unknown Het
Fnta G A 8: 26,497,229 (GRCm39) Q207* probably null Het
Fpr3 T A 17: 18,190,828 (GRCm39) V33D probably benign Het
Fshr C T 17: 89,292,821 (GRCm39) C619Y possibly damaging Het
Gbp3 T C 3: 142,272,358 (GRCm39) probably null Het
Il4ra A G 7: 125,174,333 (GRCm39) T292A probably benign Het
Lama5 A G 2: 179,818,336 (GRCm39) probably benign Het
Marveld3 G T 8: 110,688,596 (GRCm39) D48E possibly damaging Het
Meox1 A T 11: 101,784,599 (GRCm39) I78N probably benign Het
Ncor1 A T 11: 62,283,354 (GRCm39) H444Q probably damaging Het
Ndst3 T C 3: 123,340,466 (GRCm39) Q784R probably damaging Het
Or10ag2 A G 2: 87,248,714 (GRCm39) I107M probably benign Het
Or4k44 T A 2: 111,368,359 (GRCm39) I92F probably damaging Het
Pld5 A T 1: 176,102,445 (GRCm39) probably benign Het
Plk1 G A 7: 121,768,148 (GRCm39) R456H probably damaging Het
Polr2a T A 11: 69,638,840 (GRCm39) I65F possibly damaging Het
Ptprd T A 4: 75,977,922 (GRCm39) I196F probably damaging Het
Qsox2 T C 2: 26,118,408 (GRCm39) N121S probably damaging Het
Reln A G 5: 22,184,664 (GRCm39) L1617S probably damaging Het
Rragc T C 4: 123,823,761 (GRCm39) F345L probably benign Het
Sass6 A T 3: 116,407,605 (GRCm39) E240D possibly damaging Het
Shcbp1l A C 1: 153,311,770 (GRCm39) S308R possibly damaging Het
Slc1a5 T A 7: 16,520,804 (GRCm39) C224* probably null Het
Slc27a5 T C 7: 12,722,999 (GRCm39) E567G probably damaging Het
Synj2 T A 17: 6,088,201 (GRCm39) N1417K possibly damaging Het
Tbc1d9 A G 8: 83,960,791 (GRCm39) T214A probably damaging Het
Tjp3 C A 10: 81,109,699 (GRCm39) V835L probably benign Het
Trpc4 C A 3: 54,129,983 (GRCm39) Q250K probably benign Het
Ttn A T 2: 76,575,506 (GRCm39) I25129N probably damaging Het
Ube4a T A 9: 44,856,163 (GRCm39) Y523F probably damaging Het
Zfp971 G A 2: 177,665,175 (GRCm39) probably null Het
Other mutations in Gjb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Gjb2 APN 14 57,337,678 (GRCm39) missense probably benign 0.07
IGL01528:Gjb2 APN 14 57,338,125 (GRCm39) missense probably damaging 0.99
IGL02225:Gjb2 APN 14 57,337,645 (GRCm39) missense probably damaging 1.00
IGL02696:Gjb2 APN 14 57,337,769 (GRCm39) missense probably damaging 1.00
R0143:Gjb2 UTSW 14 57,337,526 (GRCm39) synonymous silent
R3816:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
R3817:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
R3818:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
R3819:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
R4569:Gjb2 UTSW 14 57,337,762 (GRCm39) missense probably benign 0.03
R5922:Gjb2 UTSW 14 57,337,755 (GRCm39) missense probably benign 0.15
R7823:Gjb2 UTSW 14 57,337,963 (GRCm39) missense probably benign 0.19
Posted On 2013-06-21