|Institutional Source||Beutler Lab|
|Gene Name||gap junction protein, beta 2|
|Synonyms||Gjb-2, Cx26, connexin 26|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4569 (G1)|
|Chromosomal Location||57098600-57104702 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 57100305 bp|
|Amino Acid Change||Valine to Isoleucine at position 149 (V149I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054343 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055698]|
|Predicted Effect||probably benign
AA Change: V149I
PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: V149I
|Meta Mutation Damage Score||0.1112|
|Coding Region Coverage||
|Validation Efficiency||99% (87/88)|
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||
|Other mutations in Gjb2||
(F):5'- TTGGACTTTCCTGAGCAATACC -3'
(R):5'- CTGGTAGCTATGCATGTGGC -3'
(F):5'- TGGACTTTCCTGAGCAATACCTAACG -3'
(R):5'- GTAGCTATGCATGTGGCCTACC -3'