|Institutional Source||Beutler Lab|
|Gene Name||gap junction protein, delta 3|
|Synonyms||connexin 30.2, connexin-30.2, Gja11, Gjc1, cx30.2|
|Is this an essential gene?||Probably non essential (E-score: 0.090)|
|Stock #||R4397 (G1)|
|Chromosomal Location||98982180-98983016 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 98982421 bp (GRCm38)|
|Amino Acid Change||Leucine to Glutamine at position 199 (L199Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055246 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062931]|
AA Change: L199Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L199Q
|Coding Region Coverage||
|Validation Efficiency||96% (55/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated atrioventricular nodal conduction velocity in the heart but no significant alterations in excitability or fast network oscillations in the hippocampus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gjd3||
(F):5'- TGATATCCAGCCTCCGATCTCG -3'
(R):5'- ATCTACTCCATGCACCAGGC -3'
(F):5'- TAGCCAGCGACGCTTTG -3'
(R):5'- TGCTACCTGCTGAGCGTG -3'