Incidental Mutation 'IGL02637:Gabrg3'
ID 301577
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 # IGL02637
Quality Score
Status
Chromosome 7
Chromosomal Location 56366213-57036936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56384775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 262 (I262T)
Ref Sequence ENSEMBL: ENSMUSP00000067632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068911]
AlphaFold P27681
Predicted Effect probably damaging
Transcript: ENSMUST00000068911
AA Change: I262T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: I262T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,309,907 (GRCm39) Y435C probably damaging Het
Adgrb1 C T 15: 74,460,143 (GRCm39) probably benign Het
Ampd1 T C 3: 103,002,199 (GRCm39) probably benign Het
Camk1g G A 1: 193,030,696 (GRCm39) P338S probably benign Het
Cog3 T C 14: 75,959,636 (GRCm39) probably benign Het
Crat A G 2: 30,296,401 (GRCm39) V355A probably benign Het
Ctla2a T A 13: 61,083,899 (GRCm39) probably benign Het
Dnaaf9 C A 2: 130,656,227 (GRCm39) probably benign Het
Efhb A G 17: 53,756,580 (GRCm39) I357T probably benign Het
Fh1 T C 1: 175,437,332 (GRCm39) M256V probably benign Het
Gata2 C T 6: 88,181,558 (GRCm39) probably benign Het
Gm6356 A G 14: 6,970,926 (GRCm38) V178A possibly damaging Het
Hacl1 T C 14: 31,362,458 (GRCm39) E63G probably damaging Het
Hid1 A T 11: 115,241,421 (GRCm39) I623N probably damaging Het
Hivep2 A G 10: 14,006,452 (GRCm39) K1017E possibly damaging Het
Ifi208 C T 1: 173,506,508 (GRCm39) T97I probably benign Het
Ighg1 T C 12: 113,293,132 (GRCm39) H186R unknown Het
Igkv8-26 T C 6: 70,170,642 (GRCm39) S78P probably damaging Het
Itih3 T C 14: 30,637,617 (GRCm39) N514S probably benign Het
Kcnj16 A T 11: 110,916,439 (GRCm39) D367V probably benign Het
Klhl23 A T 2: 69,659,258 (GRCm39) R428* probably null Het
Lgmn T C 12: 102,366,485 (GRCm39) E216G probably damaging Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp5 C T 19: 3,680,269 (GRCm39) G405D probably benign Het
Lrrc74a C T 12: 86,788,521 (GRCm39) R53* probably null Het
Lsm12 G A 11: 102,054,948 (GRCm39) R123C probably benign Het
Marchf5 T A 19: 37,198,033 (GRCm39) probably benign Het
Mark3 C A 12: 111,559,090 (GRCm39) A44D probably damaging Het
Mndal T A 1: 173,685,003 (GRCm39) N522I possibly damaging Het
Nbeal2 G T 9: 110,455,045 (GRCm39) R2611S possibly damaging Het
Nlrp4d T C 7: 10,116,482 (GRCm39) noncoding transcript Het
Npnt T A 3: 132,590,271 (GRCm39) I507F possibly damaging Het
Or51a7 G A 7: 102,622,250 (GRCm39) probably benign Het
Pde4a T A 9: 21,112,628 (GRCm39) L91Q probably damaging Het
Pdzd2 C T 15: 12,385,720 (GRCm39) V1017M probably benign Het
Pkhd1l1 A G 15: 44,427,720 (GRCm39) N3259S probably damaging Het
Plxnb2 A T 15: 89,048,260 (GRCm39) H683Q possibly damaging Het
Reck T A 4: 43,898,009 (GRCm39) S96T probably damaging Het
Rnf135 A G 11: 80,089,704 (GRCm39) K347E probably benign Het
Ro60 A G 1: 143,646,526 (GRCm39) V73A probably damaging Het
Rxfp2 A G 5: 149,979,378 (GRCm39) D246G probably damaging Het
Sdk1 C T 5: 142,080,327 (GRCm39) T1273I probably damaging Het
Slc12a8 A T 16: 33,355,330 (GRCm39) M49L probably benign Het
Slc5a11 A T 7: 122,859,728 (GRCm39) probably null Het
Surf2 A G 2: 26,809,790 (GRCm39) K247E probably damaging Het
Sys1 G A 2: 164,303,312 (GRCm39) V9M possibly damaging Het
Tcf4 G A 18: 69,480,421 (GRCm39) D18N probably damaging Het
Tmc6 A T 11: 117,658,416 (GRCm39) V773D possibly damaging Het
Trappc13 T C 13: 104,286,570 (GRCm39) Q229R probably benign Het
Xkr5 T C 8: 18,984,099 (GRCm39) E481G probably benign Het
Xpo5 C A 17: 46,546,905 (GRCm39) D885E probably damaging 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
IGL02707:Gabrg3 APN 7 56,632,439 (GRCm39) nonsense probably null
IGL03084:Gabrg3 APN 7 56,384,812 (GRCm39) missense possibly damaging 0.91
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 2015-04-16