Incidental Mutation 'R9188:Gabrp'
ID 697535
Institutional Source Beutler Lab
Gene Symbol Gabrp
Ensembl Gene ENSMUSG00000020159
Gene Name gamma-aminobutyric acid (GABA) A receptor, pi
MMRRC Submission 068980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9188 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 33550781-33578959 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33567252 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 140 (I140T)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
AlphaFold Q8QZW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000020366
AA Change: I140T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: I140T

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (71/71)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik G T 6: 83,162,248 (GRCm38) R385L probably benign Het
Abca8b A T 11: 109,981,735 (GRCm38) C13* probably null Het
Actc1 T C 2: 114,050,498 (GRCm38) D82G probably damaging Het
Adamts1 G A 16: 85,802,683 (GRCm38) R10C probably damaging Het
Ankle2 G A 5: 110,252,744 (GRCm38) V649M possibly damaging Het
Arhgap23 A G 11: 97,500,157 (GRCm38) I4V possibly damaging Het
Asic2 A G 11: 81,151,912 (GRCm38) F185S probably benign Het
Asmt G A X: 170,677,850 (GRCm38) E322K probably damaging Het
Caprin2 T C 6: 148,865,924 (GRCm38) D512G probably benign Het
Cltc A C 11: 86,737,166 (GRCm38) I52S probably damaging Het
Cntn2 A G 1: 132,515,538 (GRCm38) L1040P probably damaging Het
Col12a1 T C 9: 79,602,332 (GRCm38) T3019A probably benign Het
Crisp4 A T 1: 18,122,766 (GRCm38) C242* probably null Het
Crocc G T 4: 141,019,840 (GRCm38) N1716K probably benign Het
Cstf3 A G 2: 104,608,878 (GRCm38) E12G possibly damaging Het
Drc3 G T 11: 60,358,789 (GRCm38) V45F probably damaging Het
Etv4 A G 11: 101,775,376 (GRCm38) S108P probably damaging Het
Exosc10 T A 4: 148,558,560 (GRCm38) D31E probably damaging Het
F11 A T 8: 45,245,699 (GRCm38) D469E probably benign Het
Fzd7 A G 1: 59,484,638 (GRCm38) H560R probably benign Het
Gna15 T C 10: 81,507,964 (GRCm38) T288A probably benign Het
Gucy2c T C 6: 136,723,758 (GRCm38) D586G probably benign Het
H2-D1 T C 17: 35,265,802 (GRCm38) V213A probably damaging Het
Hsd3b1 A T 3: 98,852,900 (GRCm38) D258E probably damaging Het
Ier3 G T 17: 35,821,887 (GRCm38) G57W probably damaging Het
Ifnlr1 T A 4: 135,698,860 (GRCm38) C85S probably damaging Het
Ivd G T 2: 118,880,461 (GRCm38) G384C probably damaging Het
Iws1 G A 18: 32,080,160 (GRCm38) E214K possibly damaging Het
Jak2 A C 19: 29,310,953 (GRCm38) D1068A probably damaging Het
Klk4 T C 7: 43,885,373 (GRCm38) I252T probably damaging Het
Klra17 A T 6: 129,831,560 (GRCm38) C237S probably damaging Het
Krtap1-3 T C 11: 99,591,061 (GRCm38) T87A unknown Het
Lbhd1 A T 19: 8,887,033 (GRCm38) probably null Het
Lrig3 A G 10: 126,003,066 (GRCm38) R481G possibly damaging Het
Lrrc1 T C 9: 77,455,205 (GRCm38) Y247C probably benign Het
March1 T A 8: 66,456,151 (GRCm38) Y174* probably null Het
Mlxip A T 5: 123,445,579 (GRCm38) T402S probably benign Het
Mmd2 T C 5: 142,575,202 (GRCm38) K93E probably damaging Het
Mmp27 A G 9: 7,579,791 (GRCm38) D422G possibly damaging Het
Mroh7 T C 4: 106,709,592 (GRCm38) I487V probably benign Het
Nectin2 A G 7: 19,719,194 (GRCm38) probably null Het
Nfkbia A T 12: 55,490,473 (GRCm38) L277H probably damaging Het
Olfr569 T A 7: 102,887,389 (GRCm38) I255F possibly damaging Het
Olfr722 T C 14: 49,894,909 (GRCm38) M298V probably benign Het
Otof C T 5: 30,376,751 (GRCm38) V1410M probably damaging Het
Pcdhb11 A G 18: 37,423,135 (GRCm38) N506S probably damaging Het
Pik3c2g A C 6: 139,622,403 (GRCm38) E172D possibly damaging Het
Plch1 T C 3: 63,731,654 (GRCm38) D466G probably null Het
Plekha6 C T 1: 133,292,433 (GRCm38) R955W probably damaging Het
Ppm1d T A 11: 85,345,921 (GRCm38) S509T possibly damaging Het
Prmt7 A G 8: 106,234,854 (GRCm38) D133G probably damaging Het
Prr27 C A 5: 87,843,135 (GRCm38) P202Q probably benign Het
Rfx6 A G 10: 51,718,167 (GRCm38) I394M probably benign Het
Rgl1 G T 1: 152,519,171 (GRCm38) N715K probably damaging Het
Rnf212 G T 5: 108,774,945 (GRCm38) S13* probably null Het
Rpgrip1l T C 8: 91,305,010 (GRCm38) T80A probably damaging Het
Rsl1 G T 13: 67,182,121 (GRCm38) S211I probably benign Het
Serpinb9d A G 13: 33,202,860 (GRCm38) M304V probably damaging Het
Sh3rf1 G T 8: 61,361,773 (GRCm38) probably null Het
Snx16 C A 3: 10,420,775 (GRCm38) K261N possibly damaging Het
Srebf2 G A 15: 82,182,156 (GRCm38) R635Q probably benign Het
Styxl1 T C 5: 135,765,818 (GRCm38) probably null Het
Tarbp2 A G 15: 102,522,511 (GRCm38) D233G probably benign Het
Tenm4 A T 7: 96,772,027 (GRCm38) N633Y probably damaging Het
Tgs1 T C 4: 3,585,693 (GRCm38) L190P probably benign Het
Tmem87a C T 2: 120,402,763 (GRCm38) G55D probably benign Het
Ttn A T 2: 76,903,124 (GRCm38) Y4602* probably null Het
Unc5b A T 10: 60,773,771 (GRCm38) L582Q probably damaging Het
Wdpcp A G 11: 21,660,025 (GRCm38) D31G probably damaging Het
Wdr78 T C 4: 103,082,135 (GRCm38) T77A Het
Wrb A G 16: 96,154,163 (GRCm38) D140G probably benign Het
Zbtb32 C T 7: 30,591,895 (GRCm38) probably benign Het
Zfp936 C T 7: 43,190,344 (GRCm38) L412F probably benign Het
Other mutations in Gabrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Gabrp APN 11 33,552,644 (GRCm38) missense possibly damaging 0.91
IGL01299:Gabrp APN 11 33,554,476 (GRCm38) missense probably damaging 1.00
IGL01305:Gabrp APN 11 33,555,055 (GRCm38) missense probably damaging 1.00
IGL01686:Gabrp APN 11 33,552,826 (GRCm38) nonsense probably null
IGL01729:Gabrp APN 11 33,552,689 (GRCm38) missense probably damaging 1.00
IGL03031:Gabrp APN 11 33,554,980 (GRCm38) missense probably damaging 1.00
IGL03172:Gabrp APN 11 33,554,388 (GRCm38) missense probably damaging 1.00
IGL03280:Gabrp APN 11 33,552,616 (GRCm38) missense probably benign 0.12
ANU22:Gabrp UTSW 11 33,555,055 (GRCm38) missense probably damaging 1.00
R0265:Gabrp UTSW 11 33,552,614 (GRCm38) missense probably damaging 1.00
R0326:Gabrp UTSW 11 33,554,362 (GRCm38) missense probably damaging 0.99
R1744:Gabrp UTSW 11 33,572,462 (GRCm38) missense probably benign 0.03
R4174:Gabrp UTSW 11 33,568,092 (GRCm38) missense probably damaging 1.00
R5043:Gabrp UTSW 11 33,568,072 (GRCm38) missense probably benign 0.00
R5213:Gabrp UTSW 11 33,567,211 (GRCm38) critical splice donor site probably null
R5290:Gabrp UTSW 11 33,567,310 (GRCm38) missense probably damaging 0.99
R5665:Gabrp UTSW 11 33,554,308 (GRCm38) missense possibly damaging 0.56
R6698:Gabrp UTSW 11 33,557,017 (GRCm38) missense probably damaging 1.00
R8711:Gabrp UTSW 11 33,555,023 (GRCm38) missense probably damaging 1.00
R8817:Gabrp UTSW 11 33,554,464 (GRCm38) missense possibly damaging 0.77
R9618:Gabrp UTSW 11 33,554,342 (GRCm38) nonsense probably null
Z1176:Gabrp UTSW 11 33,552,673 (GRCm38) missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-02-07