Incidental Mutation 'IGL03084:Gabrg3'
ID 417993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrg3
Ensembl Gene ENSMUSG00000055026
Gene Name gamma-aminobutyric acid type A receptor, subunit gamma 3
Synonyms Gabrg-3, B230362M20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03084
Quality Score
Status
Chromosome 7
Chromosomal Location 56366213-57036936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56384812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 250 (S250G)
Ref Sequence ENSEMBL: ENSMUSP00000067632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068911]
AlphaFold P27681
Predicted Effect possibly damaging
Transcript: ENSMUST00000068911
AA Change: S250G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: S250G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,768,261 (GRCm39) V211L probably damaging Het
BC024139 T C 15: 76,004,007 (GRCm39) D753G probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cachd1 T A 4: 100,860,285 (GRCm39) D1285E probably damaging Het
Cacna1b T C 2: 24,499,944 (GRCm39) T147A probably benign Het
Cdc14a A G 3: 116,142,101 (GRCm39) probably null Het
Cfhr4 T A 1: 139,708,880 (GRCm39) L9F possibly damaging Het
Chd1 A G 17: 15,990,560 (GRCm39) H1704R probably benign Het
Dmkn T G 7: 30,470,481 (GRCm39) N367K possibly damaging Het
Fam151b C A 13: 92,604,534 (GRCm39) D152Y probably damaging Het
Gm28042 A G 2: 119,870,986 (GRCm39) Q833R probably benign Het
Gnpat A C 8: 125,605,638 (GRCm39) Y336S probably damaging Het
Ighv1-54 G A 12: 115,157,736 (GRCm39) probably benign Het
Irag1 A G 7: 110,485,036 (GRCm39) probably benign Het
Kif2c T C 4: 117,035,355 (GRCm39) N31S possibly damaging Het
Larp1 T A 11: 57,947,921 (GRCm39) L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 (GRCm39) P238S probably damaging Het
Lypd10 T C 7: 24,413,605 (GRCm39) I207T possibly damaging Het
Lztfl1 C T 9: 123,538,641 (GRCm39) G152E probably damaging Het
Man2a2 T C 7: 80,002,691 (GRCm39) T1097A possibly damaging Het
Myh4 A G 11: 67,142,777 (GRCm39) probably null Het
Nab2 C T 10: 127,500,346 (GRCm39) V249M probably damaging Het
Nid2 A T 14: 19,819,000 (GRCm39) D498V probably benign Het
Nrap T C 19: 56,353,886 (GRCm39) T404A probably damaging Het
Or51i1 A G 7: 103,670,838 (GRCm39) V229A probably benign Het
Or5al7 A T 2: 85,992,569 (GRCm39) C241* probably null Het
Or5c1 T C 2: 37,222,413 (GRCm39) I218T probably damaging Het
Or8c9 T G 9: 38,241,513 (GRCm39) I210S probably damaging Het
Pard3 A G 8: 128,319,573 (GRCm39) I1104V probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppfia3 A G 7: 44,989,651 (GRCm39) V1187A probably benign Het
Ppp1r16b G A 2: 158,603,413 (GRCm39) W346* probably null Het
Rpl4 A G 9: 64,085,599 (GRCm39) probably benign Het
Scn8a A T 15: 100,915,053 (GRCm39) I1206F probably damaging Het
Slc5a2 T C 7: 127,865,776 (GRCm39) S61P probably benign Het
Smarcal1 T C 1: 72,638,094 (GRCm39) probably null Het
Smyd4 A G 11: 75,281,433 (GRCm39) H302R probably benign Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Stx8 C T 11: 67,911,782 (GRCm39) Q167* probably null Het
Sycp2 C A 2: 178,033,584 (GRCm39) probably benign Het
Ttn A T 2: 76,626,742 (GRCm39) V13088D probably damaging Het
Ugt2b1 T A 5: 87,074,243 (GRCm39) M39L probably benign Het
Utp6 A T 11: 79,853,042 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,008 (GRCm39) Y276* probably null Het
Vmn2r11 T A 5: 109,207,209 (GRCm39) D37V probably benign Het
Vmn2r16 T G 5: 109,478,292 (GRCm39) F16V probably damaging Het
Vmn2r65 A T 7: 84,592,354 (GRCm39) M538K probably damaging Het
Zfp143 T A 7: 109,668,818 (GRCm39) probably benign Het
Other mutations in Gabrg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Gabrg3 APN 7 57,031,415 (GRCm39) missense probably damaging 0.99
IGL01501:Gabrg3 APN 7 56,374,214 (GRCm39) missense probably damaging 0.99
IGL02637:Gabrg3 APN 7 56,384,775 (GRCm39) missense probably damaging 0.99
IGL02707:Gabrg3 APN 7 56,632,439 (GRCm39) nonsense probably null
IGL03237:Gabrg3 APN 7 56,632,460 (GRCm39) splice site probably null
IGL03275:Gabrg3 APN 7 56,423,095 (GRCm39) missense probably damaging 1.00
IGL03309:Gabrg3 APN 7 56,632,433 (GRCm39) missense probably damaging 1.00
R0265:Gabrg3 UTSW 7 57,031,365 (GRCm39) nonsense probably null
R0612:Gabrg3 UTSW 7 56,379,454 (GRCm39) missense probably damaging 0.99
R0627:Gabrg3 UTSW 7 56,374,343 (GRCm39) missense probably damaging 0.99
R0676:Gabrg3 UTSW 7 56,374,169 (GRCm39) missense probably damaging 0.99
R1178:Gabrg3 UTSW 7 56,384,839 (GRCm39) missense probably benign 0.01
R1600:Gabrg3 UTSW 7 56,384,822 (GRCm39) nonsense probably null
R1702:Gabrg3 UTSW 7 56,634,848 (GRCm39) missense probably damaging 0.98
R1836:Gabrg3 UTSW 7 56,379,389 (GRCm39) missense probably damaging 1.00
R2327:Gabrg3 UTSW 7 56,384,835 (GRCm39) missense probably benign 0.01
R3816:Gabrg3 UTSW 7 57,031,412 (GRCm39) nonsense probably null
R3818:Gabrg3 UTSW 7 57,031,412 (GRCm39) nonsense probably null
R3819:Gabrg3 UTSW 7 57,031,412 (GRCm39) nonsense probably null
R4905:Gabrg3 UTSW 7 56,374,304 (GRCm39) missense probably damaging 0.98
R5643:Gabrg3 UTSW 7 56,423,032 (GRCm39) missense possibly damaging 0.95
R6088:Gabrg3 UTSW 7 56,634,826 (GRCm39) missense probably damaging 1.00
R6862:Gabrg3 UTSW 7 56,423,059 (GRCm39) missense possibly damaging 0.54
R6879:Gabrg3 UTSW 7 57,031,387 (GRCm39) missense probably damaging 1.00
R7075:Gabrg3 UTSW 7 56,973,444 (GRCm39) missense probably damaging 0.99
R7305:Gabrg3 UTSW 7 56,384,833 (GRCm39) missense probably benign 0.01
R7594:Gabrg3 UTSW 7 56,632,443 (GRCm39) missense possibly damaging 0.90
R7793:Gabrg3 UTSW 7 56,829,328 (GRCm39) missense probably benign 0.00
R7886:Gabrg3 UTSW 7 56,374,229 (GRCm39) missense probably damaging 1.00
R7989:Gabrg3 UTSW 7 56,374,389 (GRCm39) missense possibly damaging 0.70
R8002:Gabrg3 UTSW 7 56,384,716 (GRCm39) missense possibly damaging 0.90
R8203:Gabrg3 UTSW 7 56,423,008 (GRCm39) missense possibly damaging 0.65
R8875:Gabrg3 UTSW 7 56,379,514 (GRCm39) missense probably damaging 1.00
R8933:Gabrg3 UTSW 7 56,634,706 (GRCm39) missense probably damaging 0.96
R9027:Gabrg3 UTSW 7 56,423,122 (GRCm39) missense possibly damaging 0.88
R9090:Gabrg3 UTSW 7 56,829,386 (GRCm39) missense probably benign 0.03
R9229:Gabrg3 UTSW 7 56,374,268 (GRCm39) missense probably damaging 0.99
R9271:Gabrg3 UTSW 7 56,829,386 (GRCm39) missense probably benign 0.03
R9673:Gabrg3 UTSW 7 56,973,422 (GRCm39) missense probably damaging 0.98
R9734:Gabrg3 UTSW 7 56,634,908 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02