Incidental Mutation 'R3861:Gabra2'
ID276337
Institutional Source Beutler Lab
Gene Symbol Gabra2
Ensembl Gene ENSMUSG00000000560
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit alpha 2
SynonymsC630048P16Rik, Gabra-2
MMRRC Submission 040788-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R3861 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location70957597-71095849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70973543 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 314 (D314G)
Ref Sequence ENSEMBL: ENSMUSP00000142892 (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 damaging
Transcript: ENSMUST00000197284
AA Change: D314G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: D314G

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
Meta Mutation Damage Score 0.9671 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik G A 12: 18,533,410 S157N probably benign Het
A830018L16Rik T C 1: 11,588,554 probably benign Het
Akip1 C T 7: 109,707,406 probably benign Het
Anxa5 T C 3: 36,450,658 T252A probably benign Het
Arhgef10l A G 4: 140,515,487 F1072L possibly damaging Het
Armc1 C T 3: 19,135,032 R186Q probably damaging Het
Atxn2l A T 7: 126,501,951 probably null Het
Cadps2 A G 6: 23,355,861 I849T probably damaging Het
Ccdc28a T A 10: 18,224,995 Q28L probably damaging Het
Cdh4 T A 2: 179,874,097 V356D probably damaging Het
Chd8 T A 14: 52,237,121 Q151L probably benign Het
Chgb T A 2: 132,793,144 H335Q probably damaging Het
Col19a1 G A 1: 24,326,017 P506S probably damaging Het
Col5a2 T C 1: 45,380,237 T1228A probably damaging Het
Cpxm2 A G 7: 132,054,919 V538A probably benign Het
Cramp1l A T 17: 24,997,614 probably benign Het
Cttnbp2 T C 6: 18,423,833 R831G probably benign Het
Cyp4f17 A G 17: 32,528,104 D436G probably damaging Het
Dcaf6 A T 1: 165,429,269 N48K probably damaging Het
Ddx50 C A 10: 62,642,946 V154L possibly damaging Het
Dnah9 T C 11: 66,052,994 probably benign Het
Dnm3 T A 1: 162,311,405 I395L possibly damaging Het
Elp2 C T 18: 24,606,920 R68C probably benign Het
Frg1 A T 8: 41,407,783 probably null Het
Fsip2 G T 2: 82,984,776 D3618Y probably damaging Het
Gm906 T C 13: 50,246,851 K480E probably benign Het
Gramd1a A C 7: 31,135,940 D407E possibly damaging Het
Grm5 T A 7: 88,129,994 S881T possibly damaging Het
Ikbkb T A 8: 22,678,836 I216F possibly damaging Het
Kif3a T C 11: 53,597,978 V634A probably benign Het
Ltbp1 A T 17: 75,359,338 Y1342F possibly damaging Het
Mia2 G T 12: 59,109,021 V508L probably benign Het
Mtus2 C T 5: 148,313,413 T155M probably damaging Het
Napepld A T 5: 21,683,289 V54E probably benign Het
Nlrc4 T C 17: 74,445,621 E589G probably benign Het
Nphp3 G T 9: 104,039,326 probably benign Het
Nr2f1 T A 13: 78,195,675 R10* probably null Het
Nsfl1c C A 2: 151,510,904 probably null Het
Olfr304 A G 7: 86,386,123 V179A possibly damaging Het
Pcdhgc3 A G 18: 37,808,528 T661A probably damaging Het
Pdzrn3 A G 6: 101,172,371 V332A possibly damaging Het
Pkhd1 C T 1: 20,200,927 C3134Y probably damaging Het
Ptprz1 T C 6: 23,036,895 V1131A probably damaging Het
Rccd1 T C 7: 80,320,368 E167G probably benign Het
Ror1 T C 4: 100,407,923 I198T possibly damaging Het
Rpl31-ps17 C T 12: 54,701,612 noncoding transcript Het
Scly C T 1: 91,302,851 probably benign Het
Scn4a T C 11: 106,326,124 probably benign Het
Sh3rf2 T C 18: 42,153,319 S594P probably damaging Het
Slc19a1 G A 10: 77,041,975 V115M possibly damaging Het
Slc26a6 A T 9: 108,854,196 probably benign Het
Smg7 C T 1: 152,852,598 R439K probably null Het
Syne2 A G 12: 75,966,479 R2815G probably damaging Het
Tmem55a A G 4: 14,902,506 N169S probably damaging Het
Trim75 G A 8: 64,982,827 R324C probably damaging Het
Ucp3 T C 7: 100,480,251 S98P probably benign Het
Zscan29 G C 2: 121,160,731 R859G probably benign 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
IGL01965:Gabra2 APN 5 71008075 splice site probably benign
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
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
R7922:Gabra2 UTSW 5 71007972 nonsense probably null
R8253:Gabra2 UTSW 5 71092070 missense probably benign 0.00
Z1177:Gabra2 UTSW 5 71007992 missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- CCCTTAAAGGATCTCAGGCAAG -3'
(R):5'- TGCCTAGTGATTAGAAATGACAGC -3'

Sequencing Primer
(F):5'- GAACAACCCTCTGAAAATTGGTAC -3'
(R):5'- CAATTCACTGACTGTGCCT -3'
Posted On2015-04-06