Incidental Mutation 'IGL01684:Gabbr2'
ID103887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabbr2
Ensembl Gene ENSMUSG00000039809
Gene Namegamma-aminobutyric acid (GABA) B receptor, 2
SynonymsGpr51, Gababr2, LOC242425
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL01684
Quality Score
Status
Chromosome4
Chromosomal Location46662305-46991873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 46736501 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 460 (S460L)
Ref Sequence ENSEMBL: ENSMUSP00000103378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107749]
Predicted Effect probably benign
Transcript: ENSMUST00000107749
AA Change: S460L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: S460L

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
Coding Region Coverage
Validation Efficiency
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
Ammecr1l G T 18: 31,771,768 V21F probably damaging Het
Aox1 G A 1: 58,077,581 probably null Het
BC024139 A G 15: 76,124,685 L283P probably damaging Het
Cacna1h C T 17: 25,388,716 G876S probably damaging Het
Ccdc66 T C 14: 27,500,249 E179G possibly damaging Het
Ckap5 T G 2: 91,555,354 D182E probably benign Het
Clk1 A G 1: 58,417,265 probably null Het
Dhx34 G A 7: 16,203,279 T831M probably damaging Het
Enox1 T C 14: 77,579,093 I171T possibly damaging Het
Fscn2 G A 11: 120,367,305 R351H probably damaging Het
Gramd1a A G 7: 31,138,905 S308P possibly damaging Het
Guca1a T C 17: 47,395,143 D137G probably null Het
Heatr5a G A 12: 51,955,511 T214I probably benign Het
Klf7 T C 1: 64,120,892 probably benign Het
Macf1 A G 4: 123,465,930 S1854P probably damaging Het
Mau2 A T 8: 70,029,245 probably benign Het
Mdn1 A G 4: 32,726,857 I2639V probably benign Het
Mylk A G 16: 34,971,940 M1544V possibly damaging Het
Ogdh G T 11: 6,342,546 V420L probably damaging Het
Olfr1458 A G 19: 13,102,989 F105S possibly damaging Het
Olfr532 T C 7: 140,418,915 N286S probably damaging Het
Pcm1 A G 8: 41,257,923 T77A probably benign Het
Piezo2 T A 18: 63,083,170 I947F probably damaging Het
Prrc2c A T 1: 162,706,462 probably benign Het
Ptch2 A G 4: 117,104,787 E107G probably damaging Het
Rmdn3 T C 2: 119,147,574 E182G probably damaging Het
Rpl23a-ps3 C T 14: 34,170,788 noncoding transcript Het
Sorl1 T C 9: 41,980,711 D1881G probably damaging Het
Tbc1d19 A G 5: 53,856,879 N283S probably benign Het
Tcf20 A G 15: 82,857,160 F30S probably damaging Het
Tiparp A T 3: 65,553,333 K581I probably damaging Het
Tle3 T C 9: 61,403,446 probably benign Het
Ubr3 C A 2: 70,016,158 Y1608* probably null Het
Vmn1r59 T C 7: 5,454,300 T154A probably benign Het
Vta1 A G 10: 14,684,131 I115T probably damaging Het
Wwtr1 C A 3: 57,575,789 R31L probably damaging Het
Zfp385b T C 2: 77,719,675 D22G possibly damaging Het
Zfp516 A G 18: 82,957,201 E508G probably damaging Het
Zfp735 T A 11: 73,690,365 V76E possibly damaging Het
Other mutations in Gabbr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Gabbr2 APN 4 46787600 missense probably damaging 1.00
IGL00844:Gabbr2 APN 4 46875711 missense probably damaging 1.00
IGL01584:Gabbr2 APN 4 46674524 missense probably damaging 0.97
IGL01884:Gabbr2 APN 4 46875711 missense probably damaging 1.00
IGL02073:Gabbr2 APN 4 46667547 missense probably benign 0.00
IGL02376:Gabbr2 APN 4 46684300 missense probably damaging 1.00
R0194:Gabbr2 UTSW 4 46787565 missense possibly damaging 0.48
R0627:Gabbr2 UTSW 4 46681223 missense possibly damaging 0.92
R0685:Gabbr2 UTSW 4 46787521 missense possibly damaging 0.64
R0781:Gabbr2 UTSW 4 46718838 missense probably damaging 1.00
R0882:Gabbr2 UTSW 4 46718904 missense probably damaging 1.00
R0883:Gabbr2 UTSW 4 46677474 missense probably benign 0.00
R1004:Gabbr2 UTSW 4 46677544 missense possibly damaging 0.60
R1078:Gabbr2 UTSW 4 46664833 missense probably damaging 0.99
R1110:Gabbr2 UTSW 4 46718838 missense probably damaging 1.00
R1368:Gabbr2 UTSW 4 46674464 missense probably benign 0.31
R1557:Gabbr2 UTSW 4 46846436 missense probably damaging 1.00
R1577:Gabbr2 UTSW 4 46684319 missense probably benign 0.29
R1645:Gabbr2 UTSW 4 46664963 splice site probably null
R1743:Gabbr2 UTSW 4 46677603 missense possibly damaging 0.47
R1848:Gabbr2 UTSW 4 46739823 missense probably benign 0.31
R1997:Gabbr2 UTSW 4 46787502 missense probably damaging 1.00
R2009:Gabbr2 UTSW 4 46734119 missense probably damaging 1.00
R4021:Gabbr2 UTSW 4 46846435 missense probably damaging 1.00
R4719:Gabbr2 UTSW 4 46718797 missense probably damaging 0.99
R4757:Gabbr2 UTSW 4 46875675 missense probably damaging 0.98
R4798:Gabbr2 UTSW 4 46991139 missense possibly damaging 0.92
R5086:Gabbr2 UTSW 4 46724342 missense probably damaging 1.00
R5176:Gabbr2 UTSW 4 46681208 missense probably damaging 0.99
R5451:Gabbr2 UTSW 4 46684294 missense probably benign 0.15
R5510:Gabbr2 UTSW 4 46734113 missense probably damaging 1.00
R5611:Gabbr2 UTSW 4 46804105 missense probably damaging 0.98
R6049:Gabbr2 UTSW 4 46787641 missense probably damaging 1.00
R6089:Gabbr2 UTSW 4 46846448 missense probably damaging 1.00
R6118:Gabbr2 UTSW 4 46736459 missense probably damaging 1.00
R6209:Gabbr2 UTSW 4 46804069 missense probably damaging 1.00
R6212:Gabbr2 UTSW 4 46681189 missense probably damaging 0.98
R6717:Gabbr2 UTSW 4 46787574 missense possibly damaging 0.50
R7339:Gabbr2 UTSW 4 46846340 missense probably benign 0.01
R7479:Gabbr2 UTSW 4 46681166 missense probably damaging 0.98
R7695:Gabbr2 UTSW 4 46875687 missense probably damaging 1.00
R7808:Gabbr2 UTSW 4 46875744 missense possibly damaging 0.49
Posted On2014-01-21