Incidental Mutation 'IGL03280:Gabrp'
ID415550
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 #IGL03280
Quality Score
Status
Chromosome11
Chromosomal Location33550781-33578959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 33552616 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 416 (R416Q)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
Predicted Effect probably benign
Transcript: ENSMUST00000020366
AA Change: R416Q

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: R416Q

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb4 T C 6: 5,423,416 S188P probably benign Het
Bbs5 A G 2: 69,666,971 probably benign Het
Ccdc36 T C 9: 108,404,900 S530G possibly damaging Het
Cdh13 G T 8: 119,314,134 G693W probably damaging Het
Cdh7 T A 1: 110,108,768 Y559* probably null Het
Cemip G A 7: 83,987,330 probably benign Het
Crem A G 18: 3,273,415 probably benign Het
Crygf A G 1: 65,928,170 Y151C probably damaging Het
Dcp1b T C 6: 119,180,058 probably benign Het
Fanca A G 8: 123,316,459 probably benign Het
Fkbp15 A C 4: 62,303,267 probably benign Het
Gm13103 A T 4: 143,851,919 T250S possibly damaging Het
Impg2 T A 16: 56,268,268 Y1052* probably null Het
Isg15 T C 4: 156,199,862 M70V probably benign Het
Krit1 T A 5: 3,811,248 probably benign Het
Lrrn3 T C 12: 41,454,147 D57G probably damaging Het
Macrod1 A G 19: 7,197,572 E309G possibly damaging Het
Notch1 A T 2: 26,477,874 probably benign Het
Nptx1 T C 11: 119,544,729 T254A probably damaging Het
Olfr1121 A T 2: 87,372,123 D197V probably damaging Het
Pigm A G 1: 172,376,853 Y52C probably damaging Het
Rif1 A G 2: 52,112,599 T2022A probably benign Het
Rint1 T A 5: 23,817,078 L646Q probably damaging Het
Rpe65 A T 3: 159,604,341 I84F probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Scnn1a T C 6: 125,342,781 probably benign Het
Selenop T C 15: 3,280,622 probably benign Het
Siglecf T G 7: 43,355,930 V438G probably benign Het
St8sia4 T A 1: 95,653,774 probably benign Het
Tfeb T C 17: 47,785,937 F43S probably benign Het
Tgm6 A G 2: 130,138,931 Y216C probably damaging Het
Try10 T A 6: 41,354,220 V10E probably benign Het
Ttn A T 2: 76,898,467 C1234* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Usp24 T G 4: 106,380,430 I1095R probably damaging Het
Usp34 C T 11: 23,354,897 H377Y 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
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
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
Posted On2016-08-02