Incidental Mutation 'IGL01068:Gabra2'
ID 51034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabra2
Ensembl Gene ENSMUSG00000000560
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 2
Synonyms C630048P16Rik, Gabra-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01068
Quality Score
Status
Chromosome 5
Chromosomal Location 71115735-71253192 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71119415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 362 (I362M)
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

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
AA Change: I362M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: I362M

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,153,599 (GRCm39) probably benign Het
Adgra1 A G 7: 139,425,541 (GRCm39) E18G probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Atg16l1 C T 1: 87,702,546 (GRCm39) S269L probably damaging Het
Atp8a1 A G 5: 67,824,680 (GRCm39) V853A probably benign Het
Bicral T C 17: 47,136,317 (GRCm39) I298V probably damaging Het
Cad A G 5: 31,219,114 (GRCm39) probably benign Het
Chd9 A T 8: 91,768,744 (GRCm39) Y2448F probably benign Het
Clstn3 A G 6: 124,439,098 (GRCm39) L16S probably damaging Het
Cmtr2 G A 8: 110,949,501 (GRCm39) V604M possibly damaging Het
Ctcf A T 8: 106,408,117 (GRCm39) probably benign Het
Eif2ak2 A G 17: 79,172,800 (GRCm39) I295T probably damaging Het
Foxm1 G A 6: 128,347,930 (GRCm39) R284H possibly damaging Het
Hivep1 C A 13: 42,313,460 (GRCm39) P1900Q probably benign Het
Klhl25 G T 7: 75,515,897 (GRCm39) E268* probably null Het
Klk1b16 T C 7: 43,790,102 (GRCm39) L124P probably damaging Het
Ltf A T 9: 110,864,880 (GRCm39) probably null Het
Mpped2 T A 2: 106,695,091 (GRCm39) H248Q probably damaging Het
Mrpl1 T A 5: 96,371,895 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,978,428 (GRCm39) S429R probably damaging Het
Myl2 G A 5: 122,244,767 (GRCm39) V146I probably benign Het
Myo10 T A 15: 25,739,395 (GRCm39) I527N possibly damaging Het
Ncoa3 T C 2: 165,894,715 (GRCm39) S333P probably damaging Het
Or1j4 T G 2: 36,740,282 (GRCm39) S75A probably damaging Het
Or4k47 T G 2: 111,451,685 (GRCm39) T245P probably damaging Het
Oxct1 T C 15: 4,083,246 (GRCm39) F155S probably damaging Het
P4ha1 T C 10: 59,175,157 (GRCm39) V39A probably damaging Het
Padi6 G T 4: 140,458,264 (GRCm39) T514N possibly damaging Het
Pgm2 G A 5: 64,265,139 (GRCm39) V387I probably damaging Het
Ppt1 G A 4: 122,737,800 (GRCm39) C46Y probably damaging Het
Rnf225 T C 7: 12,662,827 (GRCm39) probably benign Het
Rpl26 T C 11: 68,793,224 (GRCm39) Y42H probably benign Het
Rundc1 A G 11: 101,324,968 (GRCm39) N558S probably damaging Het
Sema3e T G 5: 14,283,732 (GRCm39) probably null Het
Slc8a1 T C 17: 81,696,371 (GRCm39) I888V probably benign Het
Thsd7b T C 1: 129,523,883 (GRCm39) C306R probably damaging Het
Tmem209 A C 6: 30,502,085 (GRCm39) L197R probably benign Het
Tmem38b T G 4: 53,849,024 (GRCm39) V119G probably damaging Het
Trpc1 T C 9: 95,608,547 (GRCm39) D82G probably damaging Het
Zfp292 A G 4: 34,806,763 (GRCm39) F2094L probably damaging Het
Zfp638 C T 6: 83,911,976 (GRCm39) R453W probably damaging Het
Other mutations in Gabra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Gabra2 APN 5 71,163,576 (GRCm39) missense probably damaging 1.00
IGL01948:Gabra2 APN 5 71,119,228 (GRCm39) missense probably damaging 1.00
IGL01965:Gabra2 APN 5 71,165,418 (GRCm39) splice site probably benign
IGL03263:Gabra2 APN 5 71,130,836 (GRCm39) missense probably damaging 1.00
R0005:Gabra2 UTSW 5 71,130,779 (GRCm39) missense probably benign 0.00
R0751:Gabra2 UTSW 5 71,249,442 (GRCm39) splice site probably benign
R1025:Gabra2 UTSW 5 71,130,938 (GRCm39) missense probably damaging 1.00
R1713:Gabra2 UTSW 5 71,171,906 (GRCm39) missense probably benign 0.24
R1964:Gabra2 UTSW 5 71,171,793 (GRCm39) missense possibly damaging 0.91
R3861:Gabra2 UTSW 5 71,130,886 (GRCm39) missense probably damaging 1.00
R4190:Gabra2 UTSW 5 71,165,341 (GRCm39) missense probably benign 0.00
R4192:Gabra2 UTSW 5 71,165,341 (GRCm39) missense probably benign 0.00
R4193:Gabra2 UTSW 5 71,165,341 (GRCm39) missense probably benign 0.00
R6281:Gabra2 UTSW 5 71,192,105 (GRCm39) missense probably damaging 1.00
R6419:Gabra2 UTSW 5 71,119,426 (GRCm39) missense probably benign 0.00
R6814:Gabra2 UTSW 5 71,251,882 (GRCm39) missense probably damaging 1.00
R6872:Gabra2 UTSW 5 71,251,882 (GRCm39) missense probably damaging 1.00
R7922:Gabra2 UTSW 5 71,165,315 (GRCm39) nonsense probably null
R8253:Gabra2 UTSW 5 71,249,413 (GRCm39) missense probably benign 0.00
R8679:Gabra2 UTSW 5 71,170,040 (GRCm39) splice site probably benign
R8953:Gabra2 UTSW 5 71,163,525 (GRCm39) missense probably damaging 1.00
R9593:Gabra2 UTSW 5 71,165,353 (GRCm39) missense possibly damaging 0.95
R9659:Gabra2 UTSW 5 71,192,140 (GRCm39) missense probably benign 0.00
R9788:Gabra2 UTSW 5 71,192,140 (GRCm39) missense probably benign 0.00
Z1177:Gabra2 UTSW 5 71,165,335 (GRCm39) missense probably benign 0.21
Posted On 2013-06-21