|Institutional Source||Beutler Lab|
|Gene Name||gamma-aminobutyric acid (GABA) B receptor, 2|
|Synonyms||Gpr51, Gababr2, LOC242425|
|Is this an essential gene?||Possibly non essential (E-score: 0.338)|
|Stock #||R5510 (G1)|
|Chromosomal Location||46662305-46991873 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46734113 bp|
|Amino Acid Change||Leucine to Proline at position 535 (L535P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103378 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107749]|
|Predicted Effect||probably damaging
AA Change: L535P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L535P
|Meta Mutation Damage Score||0.28|
|Coding Region Coverage||
|Validation Efficiency||99% (91/92)|
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'- TCAGACACAGGCACTTCTGTC -3'
(R):5'- TCATCAGCCTGGAAGTGGAC -3'
(F):5'- AGGCACTTCTGTCTGGGC -3'
(R):5'- TGGAAGTGGACCGGCTC -3'