Incidental Mutation 'IGL00782:Gabrg3'
ID10884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrg3
Ensembl Gene ENSMUSG00000055026
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit gamma 3
SynonymsGabrg-3, B230362M20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00782
Quality Score
Status
Chromosome7
Chromosomal Location56716465-57387188 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57381667 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 42 (S42P)
Ref Sequence ENSEMBL: ENSMUSP00000065255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068394] [ENSMUST00000068911]
Predicted Effect probably damaging
Transcript: ENSMUST00000068394
AA Change: S42P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065255
Gene: ENSMUSG00000055026
AA Change: S42P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SCOP:d1i9ba_ 53 90 9e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000068911
AA Change: S42P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: S42P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Neur_chan_LBD 47 253 2.9e-51 PFAM
Pfam:Neur_chan_memb 260 461 1.4e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171965
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,573,168 E78V probably damaging Het
Atxn7 A G 14: 14,096,218 I508V possibly damaging Het
Cecr2 A G 6: 120,761,621 N1075S probably benign Het
Clcn3 A G 8: 60,922,792 I689T probably damaging Het
Cntnap3 T C 13: 64,745,805 probably benign Het
Defb11 T C 8: 21,905,494 I56V probably benign Het
Ercc5 A G 1: 44,163,935 N244S probably damaging Het
Hcrtr2 A T 9: 76,230,497 probably benign Het
Jcad T C 18: 4,675,073 L945S probably benign Het
Lrp2 T C 2: 69,501,645 M1589V probably benign Het
Prkg1 C T 19: 30,578,753 probably benign Het
Samd1 T C 8: 83,999,617 F464S probably damaging Het
Slc35b3 A G 13: 38,943,140 S213P possibly damaging Het
Taar1 A G 10: 23,920,446 N14S probably benign Het
Tinf2 A G 14: 55,680,464 probably null Het
Utrn T C 10: 12,652,811 N2140S probably benign Het
Zfp780b T C 7: 27,964,761 D123G probably benign Het
Other mutations in Gabrg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Gabrg3 APN 7 56724466 missense probably damaging 0.99
IGL02637:Gabrg3 APN 7 56735027 missense probably damaging 0.99
IGL02707:Gabrg3 APN 7 56982691 nonsense probably null
IGL03084:Gabrg3 APN 7 56735064 missense possibly damaging 0.91
IGL03237:Gabrg3 APN 7 56982712 splice site probably null
IGL03275:Gabrg3 APN 7 56773347 missense probably damaging 1.00
IGL03309:Gabrg3 APN 7 56982685 missense probably damaging 1.00
R0265:Gabrg3 UTSW 7 57381617 nonsense probably null
R0612:Gabrg3 UTSW 7 56729706 missense probably damaging 0.99
R0627:Gabrg3 UTSW 7 56724595 missense probably damaging 0.99
R0676:Gabrg3 UTSW 7 56724421 missense probably damaging 0.99
R1178:Gabrg3 UTSW 7 56735091 missense probably benign 0.01
R1600:Gabrg3 UTSW 7 56735074 nonsense probably null
R1702:Gabrg3 UTSW 7 56985100 missense probably damaging 0.98
R1836:Gabrg3 UTSW 7 56729641 missense probably damaging 1.00
R2327:Gabrg3 UTSW 7 56735087 missense probably benign 0.01
R3816:Gabrg3 UTSW 7 57381664 nonsense probably null
R3818:Gabrg3 UTSW 7 57381664 nonsense probably null
R3819:Gabrg3 UTSW 7 57381664 nonsense probably null
R4905:Gabrg3 UTSW 7 56724556 missense probably damaging 0.98
R5643:Gabrg3 UTSW 7 56773284 missense possibly damaging 0.95
R6088:Gabrg3 UTSW 7 56985078 missense probably damaging 1.00
R6862:Gabrg3 UTSW 7 56773311 missense possibly damaging 0.54
R6879:Gabrg3 UTSW 7 57381639 missense probably damaging 1.00
R7075:Gabrg3 UTSW 7 57323696 missense probably damaging 0.99
R7305:Gabrg3 UTSW 7 56735085 missense probably benign 0.01
R7594:Gabrg3 UTSW 7 56982695 missense possibly damaging 0.90
R7793:Gabrg3 UTSW 7 57179580 missense probably benign 0.00
R7886:Gabrg3 UTSW 7 56724481 missense probably damaging 1.00
R7989:Gabrg3 UTSW 7 56724641 missense possibly damaging 0.70
R8002:Gabrg3 UTSW 7 56734968 missense possibly damaging 0.90
R8203:Gabrg3 UTSW 7 56773260 missense possibly damaging 0.65
Posted On2012-12-06