Incidental Mutation 'IGL01528:Gjb2'
ID 89630
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 # IGL01528
Quality Score
Status
Chromosome 14
Chromosomal Location 57336059-57342159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57338125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 28 (L28F)
Ref Sequence ENSEMBL: ENSMUSP00000054343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055698]
AlphaFold Q00977
Predicted Effect probably damaging
Transcript: ENSMUST00000055698
AA Change: L28F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054343
Gene: ENSMUSG00000046352
AA Change: L28F

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,451,190 (GRCm39) probably benign Het
Cdc45 A G 16: 18,630,311 (GRCm39) F2S probably damaging Het
Cdon A G 9: 35,381,403 (GRCm39) R598G possibly damaging Het
Cemip2 T C 19: 21,812,909 (GRCm39) V1038A possibly damaging Het
Dusp22 C T 13: 30,889,611 (GRCm39) T64I probably benign Het
Gfer T A 17: 24,914,903 (GRCm39) T47S probably benign Het
Gfra2 T C 14: 71,203,738 (GRCm39) S296P possibly damaging Het
Gm17782 A G 17: 36,472,682 (GRCm39) probably benign Het
Gm2832 T C 14: 41,003,670 (GRCm39) V167A unknown Het
Gpr155 A G 2: 73,192,767 (GRCm39) probably null Het
Gpr45 A G 1: 43,072,383 (GRCm39) H342R probably benign Het
Gsdmd A T 15: 75,735,354 (GRCm39) T33S possibly damaging Het
Hal T A 10: 93,333,455 (GRCm39) L341Q probably damaging Het
Igfbp7 T G 5: 77,499,179 (GRCm39) D273A probably damaging Het
Kdm2a T C 19: 4,393,083 (GRCm39) D424G probably benign Het
Kif13a C T 13: 47,018,313 (GRCm39) probably benign Het
Krt35 A T 11: 99,985,420 (GRCm39) L207Q probably damaging Het
Lrp1b A T 2: 40,809,194 (GRCm39) D2572E probably damaging Het
Lrp2 A G 2: 69,322,804 (GRCm39) V1848A probably damaging Het
Myo9a T C 9: 59,686,957 (GRCm39) Y21H probably damaging Het
Ncan G T 8: 70,562,731 (GRCm39) A509E probably benign Het
Or2q1 T C 6: 42,795,208 (GRCm39) S268P probably damaging Het
Pde11a G A 2: 76,025,300 (GRCm39) probably benign Het
Phf19 G T 2: 34,787,119 (GRCm39) D448E probably damaging Het
Ptprj A T 2: 90,282,488 (GRCm39) V799D probably damaging Het
Rpgrip1 T A 14: 52,349,634 (GRCm39) Y7* probably null Het
Sema3c A G 5: 17,919,413 (GRCm39) H483R probably benign Het
Slc4a11 A G 2: 130,527,328 (GRCm39) probably benign Het
St3gal1 C A 15: 66,984,466 (GRCm39) R103L probably benign Het
Tet2 A T 3: 133,186,059 (GRCm39) V1126E possibly damaging Het
Tmem117 A T 15: 94,992,545 (GRCm39) I402L probably benign Het
Ttc28 T A 5: 111,249,826 (GRCm39) probably benign Het
Ttn A T 2: 76,702,182 (GRCm39) probably benign Het
Vmn1r7 T A 6: 57,001,532 (GRCm39) M243L probably benign Het
Wnt1 G T 15: 98,689,714 (GRCm39) W167L probably damaging Het
Zfp553 G T 7: 126,835,387 (GRCm39) S314I probably damaging Het
Zranb2 T C 3: 157,250,602 (GRCm39) probably benign Het
Other mutations in Gjb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Gjb2 APN 14 57,337,629 (GRCm39) missense possibly damaging 0.84
IGL01325:Gjb2 APN 14 57,337,678 (GRCm39) missense probably benign 0.07
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 2013-12-03