Incidental Mutation 'IGL01299:Gabrp'
ID75207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrp
Ensembl Gene ENSMUSG00000020159
Gene Namegamma-aminobutyric acid (GABA) A receptor, pi
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01299
Quality Score
Status
Chromosome11
Chromosomal Location33550781-33578959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33554476 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 280 (T280A)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
Predicted Effect probably damaging
Transcript: ENSMUST00000020366
AA Change: T280A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: T280A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Neur_chan_LBD 40 242 1.3e-49 PFAM
Pfam:Neur_chan_memb 249 353 5.2e-23 PFAM
transmembrane domain 420 437 N/A INTRINSIC
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. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,298,743 T2830I probably benign Het
Akap1 C T 11: 88,844,254 probably null Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cdk12 C T 11: 98,210,446 R377C unknown Het
Cox6b1 G A 7: 30,617,128 T81I possibly damaging Het
Creb1 T C 1: 64,570,125 probably benign Het
Cyp4f40 G T 17: 32,667,974 A140S probably benign Het
Dus4l A G 12: 31,640,824 M276T probably benign Het
Dync1h1 G T 12: 110,614,107 R134L probably benign Het
Fmo2 A T 1: 162,878,030 N413K probably benign Het
Golph3l A G 3: 95,617,277 T217A possibly damaging Het
Mtr T C 13: 12,225,650 probably benign Het
Nbea T G 3: 55,690,894 D2398A probably damaging Het
Olfr399 T A 11: 74,054,475 I95F probably benign Het
Phyh T A 2: 4,930,793 W193R probably null Het
Rab36 A G 10: 75,048,466 Q82R probably damaging Het
Ranbp2 T C 10: 58,492,817 V2846A probably damaging Het
Rprd2 G A 3: 95,776,547 S374L probably damaging Het
Slc9a3 A G 13: 74,160,263 R462G probably benign Het
Slitrk3 T C 3: 73,049,016 N808D probably benign Het
Tbck A T 3: 132,724,877 I345F probably damaging Het
Tor2a T A 2: 32,759,546 V146D probably damaging Het
Trpc6 C A 9: 8,653,061 Q623K probably damaging Het
Ube2q1 A G 3: 89,781,374 S192G probably damaging Het
Vnn1 T A 10: 23,895,051 L59Q probably damaging Het
Other mutations in Gabrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Gabrp APN 11 33552644 missense possibly damaging 0.91
IGL01305:Gabrp APN 11 33555055 missense probably damaging 1.00
IGL01686:Gabrp APN 11 33552826 nonsense probably null
IGL01729:Gabrp APN 11 33552689 missense probably damaging 1.00
IGL03031:Gabrp APN 11 33554980 missense probably damaging 1.00
IGL03172:Gabrp APN 11 33554388 missense probably damaging 1.00
IGL03280:Gabrp APN 11 33552616 missense probably benign 0.12
ANU22:Gabrp UTSW 11 33555055 missense probably damaging 1.00
R0265:Gabrp UTSW 11 33552614 missense probably damaging 1.00
R0326:Gabrp UTSW 11 33554362 missense probably damaging 0.99
R1744:Gabrp UTSW 11 33572462 missense probably benign 0.03
R4174:Gabrp UTSW 11 33568092 missense probably damaging 1.00
R5043:Gabrp UTSW 11 33568072 missense probably benign 0.00
R5213:Gabrp UTSW 11 33567211 critical splice donor site probably null
R5290:Gabrp UTSW 11 33567310 missense probably damaging 0.99
R5665:Gabrp UTSW 11 33554308 missense possibly damaging 0.56
R6698:Gabrp UTSW 11 33557017 missense probably damaging 1.00
Z1176:Gabrp UTSW 11 33552673 missense probably benign 0.06
Posted On2013-10-07