Incidental Mutation 'IGL00505:Gabrq'
ID 5643
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 # IGL00505
Quality Score
Status
Chromosome X
Chromosomal Location 71868784-71886208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71881971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 601 (S601P)
Ref Sequence ENSEMBL: ENSMUSP00000033711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033711] [ENSMUST00000114553]
AlphaFold Q9JLF1
Predicted Effect probably damaging
Transcript: ENSMUST00000033711
AA Change: S601P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033711
Gene: ENSMUSG00000031344
AA Change: S601P

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 benign
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,968,459 (GRCm39) probably null Het
Akap6 A G 12: 52,933,885 (GRCm39) H459R possibly damaging Het
Anxa5 A G 3: 36,511,646 (GRCm39) S144P possibly damaging Het
Cacna1h T G 17: 25,600,482 (GRCm39) T1620P probably damaging Het
Cdc27 T G 11: 104,412,258 (GRCm39) T444P probably benign Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cntnap5b A G 1: 100,306,886 (GRCm39) R868G possibly damaging Het
Cyp2j5 A T 4: 96,519,012 (GRCm39) N421K probably damaging Het
Dhcr7 T C 7: 143,400,805 (GRCm39) Y323H probably damaging Het
Dnai4 G T 4: 102,960,439 (GRCm39) S70R possibly damaging Het
Gm3404 T A 5: 146,465,095 (GRCm39) D278E probably damaging Het
Gpr61 A G 3: 108,058,514 (GRCm39) M49T probably damaging Het
Map3k20 T C 2: 72,219,827 (GRCm39) F253S probably damaging Het
Ndst3 G A 3: 123,421,599 (GRCm39) probably benign Het
Rcor3 C T 1: 191,812,271 (GRCm39) probably benign Het
Slc15a2 C A 16: 36,574,137 (GRCm39) C572F probably benign Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Spaca1 A G 4: 34,029,077 (GRCm39) I132T probably damaging Het
Spag6 C A 2: 18,738,995 (GRCm39) N308K probably benign Het
Stac C T 9: 111,464,107 (GRCm39) R53Q probably damaging Het
Tekt3 A G 11: 62,961,064 (GRCm39) S78G probably benign Het
Vdac3 C T 8: 23,070,393 (GRCm39) G172S possibly damaging Het
Wdr87-ps A C 7: 29,233,608 (GRCm39) noncoding transcript Het
Other mutations in Gabrq
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02102:Gabrq APN X 71,871,151 (GRCm39) splice site probably null
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 2012-04-20