|Institutional Source||Beutler Lab|
|Gene Name||gamma-aminobutyric acid (GABA) B receptor, 2|
|Synonyms||Gpr51, Gababr2, LOC242425|
|Is this an essential gene?||Probably non essential (E-score: 0.168)|
|Stock #||R0685 (G1)|
|Chromosomal Location||46662305-46991873 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 46787521 bp|
|Amino Acid Change||Histidine to Tyrosine at position 381 (H381Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103378 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107749]|
|Predicted Effect||possibly damaging
AA Change: H381Y
PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: H381Y
|Meta Mutation Damage Score||0.0873|
|Coding Region Coverage||
|Validation Efficiency||98% (89/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutation of this gene results in clonic seizures, hyperactivity, hyperalgesia in response to thermal or mechanical stimuli, increased anxiety, and decreased depression-related behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gabbr2||
(F):5'- AGCACTGTCCCCATTCAGTTCAAAG -3'
(R):5'- GCGTTTCCAGACTCCACAGCAATAC -3'
(F):5'- TGTTTCCCCAGAGAAAGAGC -3'
(R):5'- GACTCCACAGCAATACGAAAGAG -3'