|Institutional Source||Beutler Lab|
|Gene Name||gap junction protein, delta 2|
|Synonyms||connexin36, Cx36, Gja9|
|Is this an essential gene?||Probably non essential (E-score: 0.223)|
|Stock #||R7338 (G1)|
|Chromosomal Location||114009601-114013619 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 114011102 bp|
|Amino Acid Change||Arginine to Histidine at position 298 (R298H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087742 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090275]|
|Predicted Effect||probably damaging
AA Change: R298H
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: R298H
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]
PHENOTYPE: Nullizygous mutations can cause loss of electrical synapses, impaired synchronous activity of inhibitory networks, altered spike synchrony in OB glomeruli, absent coupling of alpha-ganglion cells in retina, and abnormal cued conditioning, nerve fiber andsingle cell responses, and insulin secretion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gjd2||
(F):5'- GTATCCTAGACCTTCACAGCG -3'
(R):5'- TGTATGAGTGCAACCGTTACCC -3'
(F):5'- CGAGCATCACCCGAATGAGG -3'
(R):5'- GTTACCCCTGCATCAAGGAG -3'