Incidental Mutation 'IGL03237:Gabrg3'
ID414119
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 #IGL03237
Quality Score
Status
Chromosome7
Chromosomal Location56716465-57387188 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 56982712 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000067632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068911]
Predicted Effect probably null
Transcript: ENSMUST00000068911
SMART Domains Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Gabrg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Gabrg3 APN 7 57381667 missense probably damaging 0.99
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
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 On2016-08-02