Incidental Mutation 'IGL02073:Gabbr2'
ID185914
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: 0.108) question?
Stock #IGL02073
Quality Score
Status
Chromosome4
Chromosomal Location46662305-46991873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46667547 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 866 (N866S)
Ref Sequence ENSEMBL: ENSMUSP00000103378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107749]
Predicted Effect probably benign
Transcript: ENSMUST00000107749
AA Change: N866S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: N866S

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 157,208,402 probably benign Het
6330409D20Rik T G 2: 32,740,686 probably benign Het
Als2cl A G 9: 110,894,339 K659E probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Csnk1g1 T A 9: 66,002,251 Y217N probably damaging Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Mccc2 A T 13: 100,000,275 H57Q probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr250 C T 9: 38,368,307 H244Y probably damaging Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Tm7sf3 A G 6: 146,623,710 L79P possibly damaging Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vat1 A T 11: 101,460,579 M312K possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A 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
IGL01684:Gabbr2 APN 4 46736501 missense probably benign
IGL01884:Gabbr2 APN 4 46875711 missense probably damaging 1.00
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
R7832:Gabbr2 UTSW 4 46734096 missense probably benign 0.04
R7915:Gabbr2 UTSW 4 46734096 missense probably benign 0.04
R8051:Gabbr2 UTSW 4 46736349 splice site probably null
Posted On2014-05-07