Incidental Mutation 'R7886:Gabrg3'
ID 609062
Institutional Source Beutler Lab
Gene Symbol Gabrg3
Ensembl Gene ENSMUSG00000055026
Gene Name gamma-aminobutyric acid type A receptor, subunit gamma 3
Synonyms Gabrg-3, B230362M20Rik
MMRRC Submission 045938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7886 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 56366213-57036936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56374229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 446 (R446W)
Ref Sequence ENSEMBL: ENSMUSP00000067632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068911]
AlphaFold P27681
Predicted Effect probably damaging
Transcript: ENSMUST00000068911
AA Change: R446W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: R446W

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T G 6: 92,811,437 (GRCm39) I130S unknown Het
Ano5 A G 7: 51,220,141 (GRCm39) H427R probably benign Het
Atad2 A T 15: 57,989,532 (GRCm39) V182E probably damaging Het
B4galnt1 T C 10: 127,002,923 (GRCm39) Y147H probably damaging Het
C1s2 T C 6: 124,605,289 (GRCm39) S349G possibly damaging Het
Ccdc51 G T 9: 108,920,655 (GRCm39) A181S probably damaging Het
Dcc G A 18: 72,087,939 (GRCm39) Q100* probably null Het
Dchs2 A T 3: 83,212,392 (GRCm39) I2064F probably damaging Het
Depdc1a G A 3: 159,221,706 (GRCm39) V217I probably benign Het
Dnajc7 A T 11: 100,492,629 (GRCm39) F31I probably benign Het
Eftud2 C T 11: 102,730,934 (GRCm39) R825H probably damaging Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Fdx2 A T 9: 20,984,623 (GRCm39) probably null Het
Frem1 T C 4: 82,934,643 (GRCm39) D106G possibly damaging Het
Get1 T A 16: 95,946,768 (GRCm39) L31Q possibly damaging Het
Gm42669 A G 5: 107,656,572 (GRCm39) E362G Het
Hmcn1 A T 1: 150,533,221 (GRCm39) I3022N possibly damaging Het
Ifna2 C A 4: 88,601,506 (GRCm39) V171F probably damaging Het
Igsf10 T C 3: 59,235,748 (GRCm39) N1478D probably benign Het
Kcnc1 C A 7: 46,077,045 (GRCm39) D282E probably damaging Het
Klhdc2 G A 12: 69,351,406 (GRCm39) probably null Het
Macrod2 G A 2: 141,566,565 (GRCm39) G188S probably damaging Het
Mapkbp1 T C 2: 119,843,128 (GRCm39) F186L possibly damaging Het
Mettl21a T C 1: 64,654,343 (GRCm39) E58G probably damaging Het
Muc16 A T 9: 18,497,278 (GRCm39) C6625S probably benign Het
Naip5 A T 13: 100,382,689 (GRCm39) S7T probably benign Het
Nfs1 T A 2: 155,983,981 (GRCm39) D132V unknown Het
Nlgn1 T C 3: 25,490,071 (GRCm39) D552G probably damaging Het
Numa1 C T 7: 101,663,072 (GRCm39) T2066I probably benign Het
Or10k2 T C 8: 84,268,576 (GRCm39) S268P possibly damaging Het
Or2t48 C A 11: 58,419,880 (GRCm39) V311L probably benign Het
Or4k2 A T 14: 50,424,021 (GRCm39) Y219N probably damaging Het
Or7a39 A G 10: 78,715,657 (GRCm39) Y217C possibly damaging Het
Or7g29 A T 9: 19,287,202 (GRCm39) probably null Het
Pde11a C T 2: 76,121,547 (GRCm39) V345I probably benign Het
Pglyrp2 A G 17: 32,637,735 (GRCm39) S98P possibly damaging Het
Pik3c3 C T 18: 30,452,641 (GRCm39) Q643* probably null Het
Pold2 T C 11: 5,822,714 (GRCm39) Y402C probably damaging Het
Pom121 T C 5: 135,410,848 (GRCm39) T770A unknown Het
Pou4f1 A T 14: 104,704,228 (GRCm39) V68E probably damaging Het
Ppfia1 G T 7: 144,073,020 (GRCm39) Q265K probably benign Het
Pygl A G 12: 70,253,130 (GRCm39) probably null Het
Rdh19 A G 10: 127,686,169 (GRCm39) T94A probably benign Het
Scgb1b12 A G 7: 32,033,922 (GRCm39) T61A probably damaging Het
Sirpb1c C T 3: 15,886,366 (GRCm39) A337T probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Tbc1d23 T C 16: 57,009,746 (GRCm39) E381G possibly damaging Het
Tnik A G 3: 28,720,288 (GRCm39) I1304V probably damaging Het
Tpmt C A 13: 47,193,638 (GRCm39) G54C probably damaging Het
Usp25 A T 16: 76,910,659 (GRCm39) Q905L probably damaging Het
Vmn1r91 T A 7: 19,835,490 (GRCm39) N136K probably benign Het
Wdr70 C T 15: 8,108,733 (GRCm39) E138K probably benign Het
Zbed3 A G 13: 95,472,633 (GRCm39) D19G possibly damaging Het
Zfp369 A G 13: 65,439,868 (GRCm39) K184R possibly 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
IGL02637:Gabrg3 APN 7 56,384,775 (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
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
Predicted Primers PCR Primer
(F):5'- ACTGGAGTCATGTCCTTCCC -3'
(R):5'- TGTGCCTGCAGAATTACTCTCTAC -3'

Sequencing Primer
(F):5'- GGAGTCATGTCCTTCCCTGCTAC -3'
(R):5'- ACTCTCTACTGGACATGAGGC -3'
Posted On 2019-12-20