Incidental Mutation 'IGL00505:Gabrq'
ID5643
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 #IGL00505
Quality Score
Status
ChromosomeX
Chromosomal Location72825178-72842602 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72838365 bp
ZygosityHeterozygous
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]
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
4932431P20Rik A C 7: 29,534,183 noncoding transcript Het
Abca15 T A 7: 120,369,236 probably null Het
Akap6 A G 12: 52,887,102 H459R possibly damaging Het
Anxa5 A G 3: 36,457,497 S144P possibly damaging Het
Cacna1h T G 17: 25,381,508 T1620P probably damaging Het
Cdc27 T G 11: 104,521,432 T444P probably benign Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cntnap5b A G 1: 100,379,161 R868G possibly damaging Het
Cyp2j5 A T 4: 96,630,775 N421K probably damaging Het
Dhcr7 T C 7: 143,847,068 Y323H probably damaging Het
Gm3404 T A 5: 146,528,285 D278E probably damaging Het
Gpr61 A G 3: 108,151,198 M49T probably damaging Het
Map3k20 T C 2: 72,389,483 F253S probably damaging Het
Ndst3 G A 3: 123,627,950 probably benign Het
Rcor3 C T 1: 192,127,971 probably benign Het
Slc15a2 C A 16: 36,753,775 C572F probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Spaca1 A G 4: 34,029,077 I132T probably damaging Het
Spag6 C A 2: 18,734,184 N308K probably benign Het
Stac C T 9: 111,635,039 R53Q probably damaging Het
Tekt3 A G 11: 63,070,238 S78G probably benign Het
Vdac3 C T 8: 22,580,377 G172S possibly damaging Het
Wdr78 G T 4: 103,103,242 S70R possibly damaging Het
Other mutations in Gabrq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Gabrq APN X 72836833 missense probably benign 0.01
IGL01743:Gabrq APN X 72836842 missense probably benign 0.00
IGL02102:Gabrq APN X 72827545 splice site probably null
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 On2012-04-20