Incidental Mutation 'IGL01729:Gabrp'
ID105401
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 #IGL01729
Quality Score
Status
Chromosome11
Chromosomal Location33550781-33578959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33552689 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 392 (K392E)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
Predicted Effect probably damaging
Transcript: ENSMUST00000020366
AA Change: K392E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: K392E

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,228,325 F86L probably damaging Het
Acer3 A G 7: 98,216,865 V217A probably benign Het
Adcy10 T C 1: 165,513,168 probably null Het
Adcy8 C T 15: 64,806,662 V481I probably damaging Het
Ano3 C T 2: 110,781,394 probably null Het
Arhgap23 C T 11: 97,453,961 T583I probably damaging Het
Atp2a1 A G 7: 126,457,934 L173P probably damaging Het
Clgn T C 8: 83,397,650 W74R probably damaging Het
Clstn3 T C 6: 124,449,794 S523G probably benign Het
Dnah10 A C 5: 124,787,465 K2245Q probably benign Het
Dsg1b G T 18: 20,405,238 V634L possibly damaging Het
Dzip3 A T 16: 48,928,363 V864E possibly damaging Het
Ear2 A T 14: 44,103,244 R120* probably null Het
Fam171b T C 2: 83,855,537 probably benign Het
Fam186b G A 15: 99,280,251 S398L probably benign Het
Gm10355 G A 3: 101,306,683 noncoding transcript Het
Gm3424 T C 14: 5,829,323 Y90C probably damaging Het
Gm8165 A G 14: 43,672,729 V212A unknown Het
Grm7 G A 6: 111,246,184 R395Q probably benign Het
Il1r1 T A 1: 40,294,826 N185K probably damaging Het
Jam3 A G 9: 27,105,525 F80L probably damaging Het
Map1s T C 8: 70,913,068 Y206H probably damaging Het
Mettl11b T A 1: 163,725,003 D18V probably damaging Het
Mroh7 A G 4: 106,704,205 Y614H possibly damaging Het
Pate2 T C 9: 35,670,592 Y61H probably damaging Het
Prox1 T A 1: 190,161,175 T358S probably benign Het
Prpf6 T A 2: 181,654,917 D876E probably damaging Het
Rpf1 G A 3: 146,507,149 R311C probably damaging Het
Rpusd2 T A 2: 119,035,356 V178D probably damaging Het
Stx2 A G 5: 128,990,978 F222L probably benign Het
Themis T A 10: 28,761,591 Y230* probably null Het
Tmem132e T C 11: 82,435,116 L314P possibly damaging Het
Tmtc3 T C 10: 100,447,155 E846G probably benign Het
Trem1 T C 17: 48,244,575 V88A possibly damaging Het
Trim21 G A 7: 102,563,893 A66V probably damaging Het
Trip4 A C 9: 65,874,892 V186G probably benign Het
Vps9d1 T C 8: 123,247,000 E348G probably damaging Het
Xrn2 T C 2: 147,036,797 probably null Het
Zfp36 A G 7: 28,378,463 S7P probably damaging 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
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 On2014-01-21