Incidental Mutation 'IGL01965:Gabra2'
ID182513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabra2
Ensembl Gene ENSMUSG00000000560
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit alpha 2
SynonymsC630048P16Rik, Gabra-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL01965
Quality Score
Status
Chromosome5
Chromosomal Location70957597-71095849 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 71008075 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000572] [ENSMUST00000197284] [ENSMUST00000198625]
Predicted Effect probably benign
Transcript: ENSMUST00000000572
SMART Domains Protein: ENSMUSP00000000572
Gene: ENSMUSG00000000560

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
SCOP:d1i9ba_ 47 87 7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199861
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,756,982 noncoding transcript Het
Adm C T 7: 110,628,625 L67F probably benign Het
Bcl10 C T 3: 145,933,184 R194* probably null Het
Brat1 T C 5: 140,718,056 V688A probably benign Het
Cep57 T A 9: 13,821,520 probably benign Het
Dhx57 G A 17: 80,268,850 R604W probably damaging Het
Fndc3a A G 14: 72,540,402 I1121T probably benign Het
Fry A G 5: 150,381,621 E597G probably damaging Het
Golgb1 A G 16: 36,917,920 D2207G probably damaging Het
Htr4 T A 18: 62,437,669 M265K probably damaging Het
Igf2r C T 17: 12,704,338 V1195M probably benign Het
Itga2 C A 13: 114,848,064 probably benign Het
Itih3 T C 14: 30,915,720 H494R probably damaging Het
Itpkb C A 1: 180,332,405 T32K probably damaging Het
Kif16b A T 2: 142,848,405 D252E probably damaging Het
Klhl33 A G 14: 50,891,730 Y681H probably damaging Het
Lats1 T A 10: 7,701,706 V198E probably benign Het
Me3 A G 7: 89,851,743 D554G probably benign Het
Mindy4 C T 6: 55,260,532 probably benign Het
Nipa2 G A 7: 55,944,623 probably benign Het
Olfr1162 A G 2: 88,050,436 F63L probably benign Het
Olfr1221 G A 2: 89,112,191 T107I probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr916 A T 9: 38,657,622 F257I probably benign Het
Ptgis A T 2: 167,208,253 W319R probably benign Het
Pygl C T 12: 70,191,114 A717T probably benign Het
Rbbp8 A T 18: 11,722,260 K514I probably benign Het
Scn9a A T 2: 66,484,433 L1636H probably damaging Het
Serpina3j A G 12: 104,314,804 T79A probably benign Het
Sfxn4 A G 19: 60,858,744 probably benign Het
Shc2 T A 10: 79,627,189 probably benign Het
Sim2 A T 16: 94,121,178 Y294F probably benign Het
Tep1 A G 14: 50,863,495 probably benign Het
Ubr1 A G 2: 120,875,398 L1528P probably damaging Het
Usp53 A G 3: 122,961,153 probably null Het
Vmn2r87 G T 10: 130,479,055 L221I possibly damaging Het
Other mutations in Gabra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Gabra2 APN 5 70962072 missense probably benign
IGL01084:Gabra2 APN 5 71006233 missense probably damaging 1.00
IGL01948:Gabra2 APN 5 70961885 missense probably damaging 1.00
IGL03263:Gabra2 APN 5 70973493 missense probably damaging 1.00
R0005:Gabra2 UTSW 5 70973436 missense probably benign 0.00
R0751:Gabra2 UTSW 5 71092099 splice site probably benign
R1025:Gabra2 UTSW 5 70973595 missense probably damaging 1.00
R1713:Gabra2 UTSW 5 71014563 missense probably benign 0.24
R1964:Gabra2 UTSW 5 71014450 missense possibly damaging 0.91
R3861:Gabra2 UTSW 5 70973543 missense probably damaging 1.00
R4190:Gabra2 UTSW 5 71007998 missense probably benign 0.00
R4192:Gabra2 UTSW 5 71007998 missense probably benign 0.00
R4193:Gabra2 UTSW 5 71007998 missense probably benign 0.00
R6281:Gabra2 UTSW 5 71034762 missense probably damaging 1.00
R6419:Gabra2 UTSW 5 70962083 missense probably benign 0.00
R6814:Gabra2 UTSW 5 71094539 missense probably damaging 1.00
R6872:Gabra2 UTSW 5 71094539 missense probably damaging 1.00
Z1177:Gabra2 UTSW 5 71007992 missense probably benign 0.21
Posted On2014-05-07