Incidental Mutation 'R1004:Gabbr2'
ID 97924
Institutional Source Beutler Lab
Gene Symbol Gabbr2
Ensembl Gene ENSMUSG00000039809
Gene Name gamma-aminobutyric acid type B receptor subunit 2
Synonyms Gababr2, Gpr51, LOC242425, GB2
MMRRC Submission 039114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R1004 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 46662318-46991714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46677544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 779 (V779M)
Ref Sequence ENSEMBL: ENSMUSP00000103378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107749] [ENSMUST00000205643]
AlphaFold Q80T41
Predicted Effect possibly damaging
Transcript: ENSMUST00000107749
AA Change: V779M

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: V779M

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
Pfam:Peripla_BP_6 59 434 1.5e-15 PFAM
Pfam:ANF_receptor 75 429 2e-51 PFAM
Pfam:7tm_3 492 745 6.4e-57 PFAM
PDB:4PAS|B 778 818 1e-18 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129328
Predicted Effect probably benign
Transcript: ENSMUST00000205643
Meta Mutation Damage Score 0.1089 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 100% (41/41)
MGI Phenotype 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
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,042,780 (GRCm39) I423T possibly damaging Het
Agbl3 A T 6: 34,780,386 (GRCm39) E453V probably damaging Het
Agxt A G 1: 93,063,421 (GRCm39) M108V possibly damaging Het
Akap13 T C 7: 75,337,034 (GRCm39) I831T probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arid1a A G 4: 133,414,586 (GRCm39) M1215T unknown Het
Cd163 G T 6: 124,302,306 (GRCm39) D957Y probably damaging Het
Ces2e A G 8: 105,656,370 (GRCm39) D200G probably damaging Het
Cfap54 T C 10: 92,902,558 (GRCm39) probably benign Het
Col11a1 A G 3: 113,888,671 (GRCm39) probably benign Het
Dlx6 C T 6: 6,863,665 (GRCm39) Q96* probably null Het
Dpp4 T A 2: 62,162,984 (GRCm39) Q754L probably benign Het
Ece1 A G 4: 137,653,550 (GRCm39) T100A probably benign Het
Gatm C T 2: 122,440,141 (GRCm39) probably benign Het
Gpc2 A G 5: 138,276,487 (GRCm39) L213P probably damaging Het
Hook1 A C 4: 95,910,524 (GRCm39) N713H probably benign Het
Kdm5b T A 1: 134,516,642 (GRCm39) I178K possibly damaging Het
Mettl9 G A 7: 120,675,460 (GRCm39) V287I probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mycbp2 G A 14: 103,378,353 (GRCm39) T3774I probably benign Het
Nup58 C A 14: 60,484,930 (GRCm39) probably benign Het
Nxf1 A T 19: 8,741,681 (GRCm39) T119S probably benign Het
Oaz3 T A 3: 94,342,350 (GRCm39) H102L probably damaging Het
Or8g2b T C 9: 39,751,276 (GRCm39) F182S probably benign Het
Pfpl A T 19: 12,407,789 (GRCm39) Q680L probably benign Het
Poli T A 18: 70,658,509 (GRCm39) Q75L probably benign Het
Ppp2r3d C T 9: 101,075,829 (GRCm39) probably null Het
Prr30 A G 14: 101,436,529 (GRCm39) L11P probably damaging Het
Ptchd4 A T 17: 42,688,493 (GRCm39) Y345F probably benign Het
Ric1 A G 19: 29,579,757 (GRCm39) N1233S probably benign Het
Serpinb9f TA "TTTNA,T" 13: 33,518,225 (GRCm39) probably benign Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Skp1 G C 11: 52,128,207 (GRCm39) probably benign Het
Slc12a9 T C 5: 137,320,786 (GRCm39) K528R probably damaging Het
Slc22a6 A G 19: 8,595,763 (GRCm39) N35S probably damaging Het
Tcstv2c T A 13: 120,616,558 (GRCm39) D132E probably benign Het
Xrcc5 A G 1: 72,422,937 (GRCm39) probably benign Het
Zfp235 T A 7: 23,840,169 (GRCm39) L266Q probably damaging Het
Zfp600 T A 4: 146,133,103 (GRCm39) probably benign Het
Other mutations in Gabbr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Gabbr2 APN 4 46,787,600 (GRCm39) missense probably damaging 1.00
IGL00844:Gabbr2 APN 4 46,875,711 (GRCm39) missense probably damaging 1.00
IGL01584:Gabbr2 APN 4 46,674,524 (GRCm39) missense probably damaging 0.97
IGL01684:Gabbr2 APN 4 46,736,501 (GRCm39) missense probably benign
IGL01884:Gabbr2 APN 4 46,875,711 (GRCm39) missense probably damaging 1.00
IGL02073:Gabbr2 APN 4 46,667,547 (GRCm39) missense probably benign 0.00
IGL02376:Gabbr2 APN 4 46,684,300 (GRCm39) missense probably damaging 1.00
R0194:Gabbr2 UTSW 4 46,787,565 (GRCm39) missense possibly damaging 0.48
R0627:Gabbr2 UTSW 4 46,681,223 (GRCm39) missense possibly damaging 0.92
R0685:Gabbr2 UTSW 4 46,787,521 (GRCm39) missense possibly damaging 0.64
R0781:Gabbr2 UTSW 4 46,718,838 (GRCm39) missense probably damaging 1.00
R0882:Gabbr2 UTSW 4 46,718,904 (GRCm39) missense probably damaging 1.00
R0883:Gabbr2 UTSW 4 46,677,474 (GRCm39) missense probably benign 0.00
R1078:Gabbr2 UTSW 4 46,664,833 (GRCm39) missense probably damaging 0.99
R1110:Gabbr2 UTSW 4 46,718,838 (GRCm39) missense probably damaging 1.00
R1368:Gabbr2 UTSW 4 46,674,464 (GRCm39) missense probably benign 0.31
R1557:Gabbr2 UTSW 4 46,846,436 (GRCm39) missense probably damaging 1.00
R1577:Gabbr2 UTSW 4 46,684,319 (GRCm39) missense probably benign 0.29
R1645:Gabbr2 UTSW 4 46,664,963 (GRCm39) splice site probably null
R1743:Gabbr2 UTSW 4 46,677,603 (GRCm39) missense possibly damaging 0.47
R1848:Gabbr2 UTSW 4 46,739,823 (GRCm39) missense probably benign 0.31
R1997:Gabbr2 UTSW 4 46,787,502 (GRCm39) missense probably damaging 1.00
R2009:Gabbr2 UTSW 4 46,734,119 (GRCm39) missense probably damaging 1.00
R4021:Gabbr2 UTSW 4 46,846,435 (GRCm39) missense probably damaging 1.00
R4719:Gabbr2 UTSW 4 46,718,797 (GRCm39) missense probably damaging 0.99
R4757:Gabbr2 UTSW 4 46,875,675 (GRCm39) missense probably damaging 0.98
R4798:Gabbr2 UTSW 4 46,991,139 (GRCm39) missense possibly damaging 0.92
R5086:Gabbr2 UTSW 4 46,724,342 (GRCm39) missense probably damaging 1.00
R5176:Gabbr2 UTSW 4 46,681,208 (GRCm39) missense probably damaging 0.99
R5451:Gabbr2 UTSW 4 46,684,294 (GRCm39) missense probably benign 0.15
R5510:Gabbr2 UTSW 4 46,734,113 (GRCm39) missense probably damaging 1.00
R5611:Gabbr2 UTSW 4 46,804,105 (GRCm39) missense probably damaging 0.98
R6049:Gabbr2 UTSW 4 46,787,641 (GRCm39) missense probably damaging 1.00
R6089:Gabbr2 UTSW 4 46,846,448 (GRCm39) missense probably damaging 1.00
R6118:Gabbr2 UTSW 4 46,736,459 (GRCm39) missense probably damaging 1.00
R6209:Gabbr2 UTSW 4 46,804,069 (GRCm39) missense probably damaging 1.00
R6212:Gabbr2 UTSW 4 46,681,189 (GRCm39) missense probably damaging 0.98
R6717:Gabbr2 UTSW 4 46,787,574 (GRCm39) missense possibly damaging 0.50
R7339:Gabbr2 UTSW 4 46,846,340 (GRCm39) missense probably benign 0.01
R7479:Gabbr2 UTSW 4 46,681,166 (GRCm39) missense probably damaging 0.98
R7695:Gabbr2 UTSW 4 46,875,687 (GRCm39) missense probably damaging 1.00
R7808:Gabbr2 UTSW 4 46,875,744 (GRCm39) missense possibly damaging 0.49
R7832:Gabbr2 UTSW 4 46,734,096 (GRCm39) missense probably benign 0.04
R7993:Gabbr2 UTSW 4 46,736,349 (GRCm39) splice site probably null
R7994:Gabbr2 UTSW 4 46,736,349 (GRCm39) splice site probably null
R8051:Gabbr2 UTSW 4 46,736,349 (GRCm39) splice site probably null
R8084:Gabbr2 UTSW 4 46,736,349 (GRCm39) splice site probably null
R9050:Gabbr2 UTSW 4 46,798,659 (GRCm39) missense probably benign 0.03
R9187:Gabbr2 UTSW 4 46,674,533 (GRCm39) missense probably damaging 1.00
R9622:Gabbr2 UTSW 4 46,724,283 (GRCm39) critical splice donor site probably null
R9655:Gabbr2 UTSW 4 46,815,684 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TCGGATGTGCTAAGCTCCCTGTTG -3'
(R):5'- AAGGCTGACTCTCCTATCCCAGAAG -3'

Sequencing Primer
(F):5'- AAGCTCCCTGTTGCCATGAC -3'
(R):5'- CTATCCCAGAAGGACTCTGAGG -3'
Posted On 2014-01-05