Incidental Mutation 'IGL02102:Gabrq'
ID279809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrq
Ensembl Gene ENSMUSG00000031344
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit theta
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02102
Quality Score
Status
ChromosomeX
Chromosomal Location72825178-72842602 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 72827545 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033711] [ENSMUST00000033711] [ENSMUST00000114553] [ENSMUST00000114553]
Predicted Effect probably null
Transcript: ENSMUST00000033711
SMART Domains Protein: ENSMUSP00000033711
Gene: ENSMUSG00000031344

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 59 264 3e-51 PFAM
Pfam:Neur_chan_memb 271 592 5.8e-29 PFAM
transmembrane domain 616 635 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000033711
SMART Domains Protein: ENSMUSP00000033711
Gene: ENSMUSG00000031344

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 59 264 3e-51 PFAM
Pfam:Neur_chan_memb 271 592 5.8e-29 PFAM
transmembrane domain 616 635 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114553
SMART Domains Protein: ENSMUSP00000110200
Gene: ENSMUSG00000031344

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 59 264 5.2e-54 PFAM
Pfam:Neur_chan_memb 271 523 2.7e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114553
SMART Domains Protein: ENSMUSP00000110200
Gene: ENSMUSG00000031344

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 59 264 5.2e-54 PFAM
Pfam:Neur_chan_memb 271 523 2.7e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. This gene location is also the candidate region of two different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq, Nov 2009]
PHENOTYPE: Males hemizygous for a mutation in this gene exhibit decreased prepulse inhibition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,777,439 T1338A probably benign Het
Adcy3 G A 12: 4,134,699 C125Y probably damaging Het
Aoc1 A T 6: 48,905,962 K257N probably damaging Het
Apob T C 12: 7,989,407 V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 V684D probably benign Het
AW551984 A G 9: 39,589,691 W763R probably damaging Het
Blm G A 7: 80,469,756 T1026M probably damaging Het
Cd160 A G 3: 96,805,570 I126T possibly damaging Het
Cdk14 T C 5: 5,380,083 K15E probably benign Het
Cnot6l T C 5: 96,091,659 K261R probably damaging Het
Cyp3a13 T G 5: 137,911,603 T153P probably benign Het
Ddx24 A G 12: 103,408,484 probably benign Het
Dido1 G A 2: 180,662,247 T1288I possibly damaging Het
Dnajc13 A G 9: 104,229,009 V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 Y117* probably null Het
Dsg1a A G 18: 20,332,032 N427D probably benign Het
Glce A G 9: 62,070,601 probably benign Het
Gm10477 T C X: 56,525,401 L45P probably damaging Het
Htt T A 5: 34,891,481 probably benign Het
Ift140 A G 17: 25,033,130 E317G probably benign Het
Jak1 A G 4: 101,159,086 M827T probably benign Het
Kalrn A G 16: 34,220,222 V932A probably damaging Het
Mdm2 A C 10: 117,692,717 S227R possibly damaging Het
Olfr1216 A G 2: 89,013,126 probably benign Het
Olfr153 T C 2: 87,532,461 F143L probably benign Het
Olfr305 T C 7: 86,363,866 Y157C probably benign Het
Olfr995 A G 2: 85,438,267 V297A probably damaging Het
Olfr996 G A 2: 85,579,673 V145I probably damaging Het
Pdilt T G 7: 119,486,950 E514A probably benign Het
Pepd A G 7: 34,945,603 D153G probably damaging Het
Ptgis A T 2: 167,225,447 V70E probably damaging Het
Rnf112 T C 11: 61,452,015 K262E probably benign Het
Setd5 G T 6: 113,150,985 G1300* probably null Het
Snx15 A G 19: 6,122,074 L113P possibly damaging Het
Sptbn1 T C 11: 30,137,427 D1004G probably damaging Het
Ston2 A C 12: 91,639,724 *896G probably null Het
Suco A G 1: 161,827,705 S1073P probably damaging Het
Susd1 A C 4: 59,369,636 D344E possibly damaging Het
Trnt1 G T 6: 106,778,112 probably null Het
Ttll12 A G 15: 83,582,063 F399S probably damaging Het
Vmn1r124 C T 7: 21,260,542 V26I probably benign Het
Vmn1r52 T A 6: 90,179,207 N164K possibly damaging Het
Vmn1r56 A T 7: 5,196,336 M94K possibly damaging Het
Vmn1r80 T C 7: 12,193,691 F243L probably damaging Het
Zdhhc8 G A 16: 18,225,199 S379F possibly damaging Het
Other mutations in Gabrq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Gabrq APN X 72838365 missense probably damaging 1.00
IGL01123:Gabrq APN X 72836833 missense probably benign 0.01
IGL01743:Gabrq APN X 72836842 missense probably benign 0.00
IGL02142:Gabrq APN X 72836177 missense possibly damaging 0.94
IGL02525:Gabrq APN X 72836824 missense possibly damaging 0.69
R1766:Gabrq UTSW X 72833383 missense probably damaging 1.00
X0063:Gabrq UTSW X 72831693 missense probably damaging 0.99
Posted On2015-04-16