Incidental Mutation 'IGL03172:Gabrp'
ID411870
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 #IGL03172
Quality Score
Status
Chromosome11
Chromosomal Location33550781-33578959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33554388 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 309 (Y309C)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
Predicted Effect probably damaging
Transcript: ENSMUST00000020366
AA Change: Y309C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: Y309C

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Ap2a1 A C 7: 44,904,055 D629E probably benign Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Celf6 C T 9: 59,582,282 A90V probably damaging Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Csnk1g3 A G 18: 53,953,284 I420M possibly damaging Het
Eml3 T C 19: 8,939,179 probably benign Het
Epn3 T C 11: 94,491,630 N508S possibly damaging Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Smgc A T 15: 91,860,444 D333V probably damaging Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zbtb5 A T 4: 44,994,003 H460Q possibly damaging Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Zkscan1 A G 5: 138,094,002 Q146R probably benign Het
Other mutations in Gabrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Gabrp APN 11 33552644 missense possibly damaging 0.91
IGL01299:Gabrp APN 11 33554476 missense probably damaging 1.00
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
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 On2016-08-02