Incidental Mutation 'R4192:Gabra2'
ID 318349
Institutional Source Beutler Lab
Gene Symbol Gabra2
Ensembl Gene ENSMUSG00000000560
Gene Name gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2
Synonyms C630048P16Rik, Gabra-2
MMRRC Submission 041023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4192 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 70957597-71095849 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71007998 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 210 (P210S)
Ref Sequence ENSEMBL: ENSMUSP00000142892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000572] [ENSMUST00000197284] [ENSMUST00000198625]
AlphaFold P26048
Predicted Effect probably benign
Transcript: ENSMUST00000000572
SMART Domains Protein: ENSMUSP00000000572
Gene: ENSMUSG00000000560

signal peptide 1 28 N/A INTRINSIC
Pfam:Neur_chan_LBD 42 250 1.9e-51 PFAM
Pfam:Neur_chan_memb 257 344 1.2e-32 PFAM
low complexity region 364 375 N/A INTRINSIC
low complexity region 392 410 N/A INTRINSIC
transmembrane domain 423 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197124
Predicted Effect probably benign
Transcript: ENSMUST00000197284
AA Change: P210S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: P210S

signal peptide 1 28 N/A INTRINSIC
Pfam:Neur_chan_LBD 42 250 2.7e-53 PFAM
Pfam:Neur_chan_memb 257 354 5.6e-38 PFAM
Pfam:Neur_chan_memb 343 437 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198625
SMART Domains Protein: ENSMUSP00000143645
Gene: ENSMUSG00000000560

signal peptide 1 28 N/A INTRINSIC
SCOP:d1i9ba_ 47 87 7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199861
Meta Mutation Damage Score 0.1240 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 36,096,579 (GRCm38) R178L possibly damaging Het
Acot4 T C 12: 84,043,174 (GRCm38) probably benign Het
Add3 C A 19: 53,242,524 (GRCm38) D543E probably benign Het
Angpt4 A C 2: 151,943,318 (GRCm38) D418A probably benign Het
Ano8 A T 8: 71,483,292 (GRCm38) V260D probably damaging Het
Cfh C T 1: 140,102,716 (GRCm38) R860H possibly damaging Het
Csmd3 T C 15: 47,847,271 (GRCm38) D1536G probably damaging Het
Dnajb9 A T 12: 44,207,077 (GRCm38) D182E probably benign Het
E330021D16Rik T C 6: 136,401,437 (GRCm38) T132A probably benign Het
Epb42 G T 2: 121,030,089 (GRCm38) probably null Het
Fam185a T A 5: 21,425,124 (GRCm38) probably benign Het
Fam205c A T 4: 42,874,185 (GRCm38) probably benign Het
Fer1l6 A G 15: 58,647,149 (GRCm38) D1710G probably damaging Het
Gm8369 C T 19: 11,502,232 (GRCm38) P9S probably damaging Het
Il17ra A G 6: 120,481,511 (GRCm38) D541G probably damaging Het
Ints4 T G 7: 97,507,733 (GRCm38) H337Q probably damaging Het
Itgam A G 7: 128,064,732 (GRCm38) T44A probably benign Het
Lyst C A 13: 13,740,513 (GRCm38) T3264N probably damaging Het
Macf1 A G 4: 123,473,042 (GRCm38) F1077S possibly damaging Het
Myo3a T A 2: 22,407,377 (GRCm38) F728I probably damaging Het
Nacad T C 11: 6,605,534 (GRCm38) E72G probably benign Het
Nkain3 G A 4: 20,485,003 (GRCm38) Q25* probably null Het
Oca2 T C 7: 56,297,249 (GRCm38) F342S probably damaging Het
Olfr934 T A 9: 38,983,017 (GRCm38) Q9L probably benign Het
Osbpl6 T A 2: 76,585,229 (GRCm38) L499Q probably damaging Het
Pcdhgb8 G C 18: 37,763,541 (GRCm38) D555H probably damaging Het
Peak1 A T 9: 56,258,741 (GRCm38) N634K probably damaging Het
Pitpnm3 T C 11: 72,051,959 (GRCm38) K818R possibly damaging Het
Rab3gap1 T A 1: 127,925,470 (GRCm38) probably benign Het
Rcc1l T C 5: 134,155,809 (GRCm38) T385A probably benign Het
Rrm2 T C 12: 24,708,378 (GRCm38) I11T probably benign Het
Scnn1b A G 7: 121,902,739 (GRCm38) T207A possibly damaging Het
Syt12 T A 19: 4,447,681 (GRCm38) probably benign Het
Tmprss6 A T 15: 78,446,657 (GRCm38) probably null Het
Ttbk1 A T 17: 46,479,247 (GRCm38) C91S probably damaging Het
Vit A G 17: 78,586,826 (GRCm38) H219R probably benign Het
Vmn1r27 A C 6: 58,215,827 (GRCm38) I14R probably damaging Het
Other mutations in Gabra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Gabra2 APN 5 70,962,072 (GRCm38) missense probably benign
IGL01084:Gabra2 APN 5 71,006,233 (GRCm38) missense probably damaging 1.00
IGL01948:Gabra2 APN 5 70,961,885 (GRCm38) missense probably damaging 1.00
IGL01965:Gabra2 APN 5 71,008,075 (GRCm38) splice site probably benign
IGL03263:Gabra2 APN 5 70,973,493 (GRCm38) missense probably damaging 1.00
R0005:Gabra2 UTSW 5 70,973,436 (GRCm38) missense probably benign 0.00
R0751:Gabra2 UTSW 5 71,092,099 (GRCm38) splice site probably benign
R1025:Gabra2 UTSW 5 70,973,595 (GRCm38) missense probably damaging 1.00
R1713:Gabra2 UTSW 5 71,014,563 (GRCm38) missense probably benign 0.24
R1964:Gabra2 UTSW 5 71,014,450 (GRCm38) missense possibly damaging 0.91
R3861:Gabra2 UTSW 5 70,973,543 (GRCm38) missense probably damaging 1.00
R4190:Gabra2 UTSW 5 71,007,998 (GRCm38) missense probably benign 0.00
R4193:Gabra2 UTSW 5 71,007,998 (GRCm38) missense probably benign 0.00
R6281:Gabra2 UTSW 5 71,034,762 (GRCm38) missense probably damaging 1.00
R6419:Gabra2 UTSW 5 70,962,083 (GRCm38) missense probably benign 0.00
R6814:Gabra2 UTSW 5 71,094,539 (GRCm38) missense probably damaging 1.00
R6872:Gabra2 UTSW 5 71,094,539 (GRCm38) missense probably damaging 1.00
R7922:Gabra2 UTSW 5 71,007,972 (GRCm38) nonsense probably null
R8253:Gabra2 UTSW 5 71,092,070 (GRCm38) missense probably benign 0.00
R8679:Gabra2 UTSW 5 71,012,697 (GRCm38) splice site probably benign
R8953:Gabra2 UTSW 5 71,006,182 (GRCm38) missense probably damaging 1.00
R9593:Gabra2 UTSW 5 71,008,010 (GRCm38) missense possibly damaging 0.95
R9659:Gabra2 UTSW 5 71,034,797 (GRCm38) missense probably benign 0.00
R9788:Gabra2 UTSW 5 71,034,797 (GRCm38) missense probably benign 0.00
Z1177:Gabra2 UTSW 5 71,007,992 (GRCm38) missense probably benign 0.21
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-10