Incidental Mutation 'IGL02102:Gabrq'
ID 279809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrq
Ensembl Gene ENSMUSG00000031344
Gene Name gamma-aminobutyric acid type A receptor subunit theta
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02102
Quality Score
Status
Chromosome X
Chromosomal Location 71868784-71886208 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 71871151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033711] [ENSMUST00000033711] [ENSMUST00000114553] [ENSMUST00000114553]
AlphaFold Q9JLF1
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: 92,754,420 (GRCm39) T1338A probably benign Het
Adcy3 G A 12: 4,184,699 (GRCm39) C125Y probably damaging Het
Aoc1 A T 6: 48,882,896 (GRCm39) K257N probably damaging Het
Apob T C 12: 8,039,407 (GRCm39) V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 (GRCm39) V684D probably benign Het
AW551984 A G 9: 39,500,987 (GRCm39) W763R probably damaging Het
Blm G A 7: 80,119,504 (GRCm39) T1026M probably damaging Het
Cd160 A G 3: 96,712,886 (GRCm39) I126T possibly damaging Het
Cdk14 T C 5: 5,430,083 (GRCm39) K15E probably benign Het
Cnot6l T C 5: 96,239,518 (GRCm39) K261R probably damaging Het
Cyp3a13 T G 5: 137,909,865 (GRCm39) T153P probably benign Het
Ddx24 A G 12: 103,374,743 (GRCm39) probably benign Het
Dido1 G A 2: 180,304,040 (GRCm39) T1288I possibly damaging Het
Dnajc13 A G 9: 104,106,208 (GRCm39) V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dsg1a A G 18: 20,465,089 (GRCm39) N427D probably benign Het
Glce A G 9: 61,977,883 (GRCm39) probably benign Het
Gm10477 T C X: 55,570,761 (GRCm39) L45P probably damaging Het
Htt T A 5: 35,048,825 (GRCm39) probably benign Het
Ift140 A G 17: 25,252,104 (GRCm39) E317G probably benign Het
Jak1 A G 4: 101,016,283 (GRCm39) M827T probably benign Het
Kalrn A G 16: 34,040,592 (GRCm39) V932A probably damaging Het
Mdm2 A C 10: 117,528,622 (GRCm39) S227R possibly damaging Het
Or14a259 T C 7: 86,013,074 (GRCm39) Y157C probably benign Het
Or4c111 A G 2: 88,843,470 (GRCm39) probably benign Het
Or5ak25 A G 2: 85,268,611 (GRCm39) V297A probably damaging Het
Or5g27 G A 2: 85,410,017 (GRCm39) V145I probably damaging Het
Or5w22 T C 2: 87,362,805 (GRCm39) F143L probably benign Het
Pdilt T G 7: 119,086,173 (GRCm39) E514A probably benign Het
Pepd A G 7: 34,645,028 (GRCm39) D153G probably damaging Het
Ptgis A T 2: 167,067,367 (GRCm39) V70E probably damaging Het
Rnf112 T C 11: 61,342,841 (GRCm39) K262E probably benign Het
Setd5 G T 6: 113,127,946 (GRCm39) G1300* probably null Het
Snx15 A G 19: 6,172,104 (GRCm39) L113P possibly damaging Het
Sptbn1 T C 11: 30,087,427 (GRCm39) D1004G probably damaging Het
Ston2 A C 12: 91,606,498 (GRCm39) *896G probably null Het
Suco A G 1: 161,655,274 (GRCm39) S1073P probably damaging Het
Susd1 A C 4: 59,369,636 (GRCm39) D344E possibly damaging Het
Trnt1 G T 6: 106,755,073 (GRCm39) probably null Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Vmn1r124 C T 7: 20,994,467 (GRCm39) V26I probably benign Het
Vmn1r52 T A 6: 90,156,189 (GRCm39) N164K possibly damaging Het
Vmn1r56 A T 7: 5,199,335 (GRCm39) M94K possibly damaging Het
Vmn1r80 T C 7: 11,927,618 (GRCm39) F243L probably damaging Het
Zdhhc8 G A 16: 18,043,063 (GRCm39) S379F possibly damaging Het
Other mutations in Gabrq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Gabrq APN X 71,881,971 (GRCm39) missense probably damaging 1.00
IGL01123:Gabrq APN X 71,880,439 (GRCm39) missense probably benign 0.01
IGL01743:Gabrq APN X 71,880,448 (GRCm39) missense probably benign 0.00
IGL02142:Gabrq APN X 71,879,783 (GRCm39) missense possibly damaging 0.94
IGL02525:Gabrq APN X 71,880,430 (GRCm39) missense possibly damaging 0.69
R1766:Gabrq UTSW X 71,876,989 (GRCm39) missense probably damaging 1.00
X0063:Gabrq UTSW X 71,875,299 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16