Incidental Mutation 'IGL01123:Gabrq'
ID53346
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 #IGL01123
Quality Score
Status
ChromosomeX
Chromosomal Location72825178-72842602 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72836833 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 311 (D311N)
Ref Sequence ENSEMBL: ENSMUSP00000110200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033711] [ENSMUST00000114553]
Predicted Effect probably benign
Transcript: ENSMUST00000033711
AA Change: D311N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000033711
Gene: ENSMUSG00000031344
AA Change: D311N

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
AA Change: D311N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110200
Gene: ENSMUSG00000031344
AA Change: D311N

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,973,938 D167E probably damaging Het
Aadat A T 8: 60,526,614 E170V probably benign Het
Acsf2 T C 11: 94,570,450 E300G probably benign Het
Agbl3 C T 6: 34,846,976 Q859* probably null Het
Arhgap11a T C 2: 113,834,773 probably benign Het
Arhgef40 C A 14: 51,994,346 Q730K probably damaging Het
Armc3 C T 2: 19,201,805 P13L possibly damaging Het
B3gnt2 T A 11: 22,836,490 T233S probably benign Het
Bnc1 G A 7: 81,973,707 Q591* probably null Het
Bsn A T 9: 108,115,986 F856I probably damaging Het
CK137956 T A 4: 127,935,850 T558S probably benign Het
Coq8b G A 7: 27,240,084 V180I probably damaging Het
Csmd1 A T 8: 17,534,928 L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 S769P possibly damaging Het
Diras1 T A 10: 81,022,415 M1L probably damaging Het
Fam161b A G 12: 84,357,664 W81R probably benign Het
Fat4 A T 3: 38,957,269 I2173L probably benign Het
Fbn2 T C 18: 58,104,081 T617A possibly damaging Het
Isl2 G T 9: 55,545,462 G335C probably damaging Het
Kbtbd7 T C 14: 79,428,612 V628A probably damaging Het
Kmt2d T C 15: 98,837,148 M5378V unknown Het
Lrrc23 G T 6: 124,778,819 D75E probably benign Het
Mab21l3 G A 3: 101,835,130 T38M probably benign Het
Matn1 T C 4: 130,950,011 I177T possibly damaging Het
Mtor T C 4: 148,453,037 S60P probably benign Het
Naip6 T C 13: 100,304,438 E278G probably benign Het
Nsun6 T C 2: 15,048,978 I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 S492T probably benign Het
Pakap C T 4: 57,757,627 Q188* probably null Het
Pom121 A T 5: 135,391,706 V287D unknown Het
Ptprq A T 10: 107,686,218 F624Y probably damaging Het
Ptprr A G 10: 116,188,317 T178A probably benign Het
Pygm A G 19: 6,391,394 N473S probably benign Het
Ros1 A T 10: 52,120,809 Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 S6P possibly damaging Het
Sgca T A 11: 94,972,287 Q80L probably damaging Het
Skint6 A G 4: 112,804,682 L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 N600K probably benign Het
Spata20 T C 11: 94,483,395 T350A probably benign Het
Syne1 G T 10: 5,344,921 Y1227* probably null Het
Unc13c T C 9: 73,933,197 Y124C probably benign Het
Usp40 G A 1: 87,986,123 T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 W116R probably benign Het
Vps4a T C 8: 107,039,219 probably benign Het
Zfyve16 A G 13: 92,492,522 V1469A probably damaging Het
Other mutations in Gabrq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Gabrq APN X 72838365 missense probably damaging 1.00
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 On2013-06-21