Incidental Mutation 'IGL01325:Gjb2'
ID 74211
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 # IGL01325
Quality Score
Status
Chromosome 14
Chromosomal Location 57336059-57342159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57337678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 177 (T177A)
Ref Sequence ENSEMBL: ENSMUSP00000054343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055698]
AlphaFold Q00977
Predicted Effect probably benign
Transcript: ENSMUST00000055698
AA Change: T177A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054343
Gene: ENSMUSG00000046352
AA Change: T177A

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,347 (GRCm39) T127A probably damaging Het
Acrv1 T A 9: 36,609,810 (GRCm39) M227K probably benign Het
Adam22 T C 5: 8,177,333 (GRCm39) N592S probably benign Het
Adamts15 T A 9: 30,832,984 (GRCm39) I184F possibly damaging Het
Adcy1 T C 11: 7,014,102 (GRCm39) V168A possibly damaging Het
Arl6ip5 T C 6: 97,209,501 (GRCm39) F179L probably benign Het
Asxl2 G T 12: 3,477,172 (GRCm39) R6L probably damaging Het
Btaf1 T A 19: 36,982,049 (GRCm39) probably benign Het
Ccdc136 T C 6: 29,412,949 (GRCm39) F445L probably benign Het
Cpne3 T C 4: 19,535,229 (GRCm39) S268G probably benign Het
Crtc3 C T 7: 80,327,116 (GRCm39) R70Q probably damaging Het
Fam169a C A 13: 97,259,207 (GRCm39) A421E probably benign Het
Fhod1 A T 8: 106,058,281 (GRCm39) M825K probably benign Het
Gm6576 A G 15: 27,025,970 (GRCm39) noncoding transcript Het
Herpud2 A G 9: 25,025,207 (GRCm39) V175A probably benign Het
Hmgxb3 T C 18: 61,267,078 (GRCm39) D1052G probably damaging Het
Itpr1 T A 6: 108,358,169 (GRCm39) F578L probably benign Het
Kdm7a T G 6: 39,135,243 (GRCm39) probably benign Het
Krt76 A T 15: 101,793,323 (GRCm39) S572T unknown Het
Lrrcc1 T C 3: 14,601,601 (GRCm39) probably null Het
Marchf9 A C 10: 126,893,459 (GRCm39) V183G probably damaging Het
Mrtfb T C 16: 13,219,088 (GRCm39) V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 (GRCm39) D123E probably benign Het
Nhlh2 T G 3: 101,920,342 (GRCm39) Y125D probably damaging Het
Nol4l A G 2: 153,278,271 (GRCm39) probably benign Het
Npas1 C T 7: 16,197,247 (GRCm39) G206D probably benign Het
Or52h9 T C 7: 104,202,896 (GRCm39) F257L probably damaging Het
Or5ak24 C A 2: 85,260,639 (GRCm39) C178F possibly damaging Het
Pcdhb4 T A 18: 37,442,676 (GRCm39) V662E probably damaging Het
Plxna3 G A X: 73,379,400 (GRCm39) G758S probably damaging Het
Prdm15 T A 16: 97,607,717 (GRCm39) N709Y probably damaging Het
Pygo2 C T 3: 89,339,753 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,120 (GRCm39) S947T probably damaging Het
Rasgrp1 T A 2: 117,129,010 (GRCm39) H203L probably damaging Het
Rbbp6 G A 7: 122,587,841 (GRCm39) G270R probably damaging Het
Rcl1 A G 19: 29,098,662 (GRCm39) probably null Het
Rpl23a-ps1 T C 1: 46,020,793 (GRCm39) noncoding transcript Het
Serpinb7 T G 1: 107,363,110 (GRCm39) H91Q probably damaging Het
Shd C T 17: 56,279,839 (GRCm39) P111S possibly damaging Het
Slc35e1 G T 8: 73,237,602 (GRCm39) probably benign Het
Srgap3 C T 6: 112,752,647 (GRCm39) R279H probably damaging Het
Sstr4 G A 2: 148,237,472 (GRCm39) E28K probably benign Het
Stip1 T C 19: 6,998,464 (GRCm39) probably benign Het
Syne2 A G 12: 75,973,288 (GRCm39) E1097G probably benign Het
Tbcd T A 11: 121,431,819 (GRCm39) V489E probably damaging Het
Tnks2 T A 19: 36,849,033 (GRCm39) S516R probably benign Het
Trmt44 T A 5: 35,726,147 (GRCm39) R343S possibly damaging Het
Trps1 A G 15: 50,710,210 (GRCm39) S47P probably benign Het
Ubr3 A C 2: 69,747,441 (GRCm39) K235Q possibly damaging Het
Uckl1 G A 2: 181,216,754 (GRCm39) Q48* probably null Het
Vat1 T C 11: 101,356,541 (GRCm39) D140G probably benign Het
Vmn2r80 A G 10: 79,030,081 (GRCm39) T636A possibly damaging Het
Zfp423 A T 8: 88,508,239 (GRCm39) probably null Het
Zfp667 C A 7: 6,293,545 (GRCm39) T15N probably damaging Het
Other mutations in Gjb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Gjb2 APN 14 57,337,629 (GRCm39) missense possibly damaging 0.84
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 2013-10-07