Incidental Mutation 'IGL02229:Gabra3'
ID285441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabra3
Ensembl Gene ENSMUSG00000031343
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit alpha 3
SynonymsGabra-3
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02229
Quality Score
Status
ChromosomeX
Chromosomal Location72432681-72656848 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 72501077 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055966] [ENSMUST00000114554]
Predicted Effect probably null
Transcript: ENSMUST00000055966
SMART Domains Protein: ENSMUSP00000062638
Gene: ENSMUSG00000031343

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Neur_chan_LBD 67 275 2.5e-52 PFAM
Pfam:Neur_chan_memb 282 411 3.3e-41 PFAM
Pfam:Neur_chan_memb 403 475 1.9e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114554
SMART Domains Protein: ENSMUSP00000110201
Gene: ENSMUSG00000031343

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Pfam:Neur_chan_LBD 108 316 1.8e-49 PFAM
Pfam:Neur_chan_memb 323 434 2.5e-33 PFAM
low complexity region 454 478 N/A INTRINSIC
transmembrane domain 498 520 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137517
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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Hemizygous males exhibit hyperactivity and an increased startle response with impaired prepulse inhibition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,353 D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 D114Y probably damaging Het
Ago4 T A 4: 126,511,532 N416I probably benign Het
Aoc1 C T 6: 48,905,909 Q240* probably null Het
Atl1 G A 12: 69,926,025 V40I probably benign Het
Cdh2 T C 18: 16,624,753 I591V probably benign Het
Cic C A 7: 25,290,950 Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 T C 1: 10,083,556 S397P probably damaging Het
D130043K22Rik T C 13: 24,875,924 Y593H probably damaging Het
Dck A G 5: 88,774,105 Y142C probably damaging Het
Eea1 A T 10: 96,018,184 E568V probably damaging Het
Gucy2f A G X: 142,179,988 S342P probably benign Het
Hbb-bh1 T A 7: 103,842,825 I61F possibly damaging Het
Hook1 T C 4: 96,001,251 S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 R230H probably damaging Het
Iglc2 C T 16: 19,198,733 A41T probably benign Het
Il1r1 A G 1: 40,313,358 K566E probably damaging Het
Kcns3 A T 12: 11,092,092 M202K probably damaging Het
Krt7 C A 15: 101,427,616 A442D probably benign Het
Ltk C T 2: 119,758,573 R200H probably benign Het
Macf1 G T 4: 123,509,826 D582E probably damaging Het
Mbnl3 A T X: 51,139,341 Y69N probably damaging Het
Mpp1 T C X: 75,121,428 probably benign Het
Myo18b A G 5: 112,878,110 S25P unknown Het
Nsd3 A G 8: 25,710,748 N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 probably benign Het
Rab3gap2 A G 1: 185,259,383 K689E possibly damaging Het
Sva T A 6: 42,042,222 C109S probably damaging Het
Taf3 T C 2: 9,952,834 N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 M393K probably damaging Het
Tmem242 A T 17: 5,411,407 S129T probably benign Het
Ttn A T 2: 76,871,169 probably benign Het
Other mutations in Gabra3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Gabra3 APN X 72476297 missense probably benign 0.04
IGL03197:Gabra3 APN X 72540128 missense possibly damaging 0.92
Posted On2015-04-16