Incidental Mutation 'R1744:Gabrp'
ID 200600
Institutional Source Beutler Lab
Gene Symbol Gabrp
Ensembl Gene ENSMUSG00000020159
Gene Name gamma-aminobutyric acid (GABA) A receptor, pi
MMRRC Submission 039776-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1744 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 33550781-33578959 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33572462 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 28 (V28E)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366] [ENSMUST00000135350]
AlphaFold Q8QZW7
Predicted Effect probably benign
Transcript: ENSMUST00000020366
AA Change: V28E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: V28E

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
Predicted Effect unknown
Transcript: ENSMUST00000135350
AA Change: V28E
SMART Domains Protein: ENSMUSP00000120500
Gene: ENSMUSG00000020159
AA Change: V28E

signal peptide 1 23 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 98% (59/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,794,420 (GRCm38) E1247G probably damaging Het
Bcl2l15 T A 3: 103,838,540 (GRCm38) L165Q probably damaging Het
Cd163 C A 6: 124,307,028 (GRCm38) A53E possibly damaging Het
Cemip2 C A 19: 21,832,137 (GRCm38) Y960* probably null Het
Ces4a G A 8: 105,138,097 (GRCm38) G69S probably damaging Het
Clca3a1 G T 3: 144,746,835 (GRCm38) A629D probably damaging Het
Csde1 T A 3: 103,050,315 (GRCm38) S463R probably benign Het
Cth C G 3: 157,906,268 (GRCm38) R304P probably damaging Het
D7Ertd443e A G 7: 134,349,413 (GRCm38) V177A probably benign Het
Ddx56 G A 11: 6,266,396 (GRCm38) R189W probably damaging Het
Dennd2a A T 6: 39,480,251 (GRCm38) F752L probably benign Het
Gpam T C 19: 55,074,591 (GRCm38) E763G probably damaging Het
Hars1 G A 18: 36,770,832 (GRCm38) R266C probably benign Het
Klf7 C A 1: 64,079,213 (GRCm38) R75L possibly damaging Het
Kmt2d T C 15: 98,865,047 (GRCm38) K281E probably damaging Het
Lbx1 T C 19: 45,234,213 (GRCm38) K124E probably damaging Het
Lcp2 T C 11: 34,069,911 (GRCm38) probably null Het
Mab21l2 T C 3: 86,546,904 (GRCm38) E263G possibly damaging Het
Macf1 A T 4: 123,475,853 (GRCm38) I140K probably damaging Het
Mcemp1 G A 8: 3,666,054 (GRCm38) A20T probably damaging Het
Met T C 6: 17,540,646 (GRCm38) V137A possibly damaging Het
Mgat5 T C 1: 127,479,469 (GRCm38) F624S probably damaging Het
Nutm2 T C 13: 50,469,354 (GRCm38) I29T probably benign Het
Ociad1 T C 5: 73,300,719 (GRCm38) probably null Het
Ogfod2 G A 5: 124,114,156 (GRCm38) probably null Het
Or6c69 A C 10: 129,911,393 (GRCm38) V295G probably damaging Het
Or8g4 A C 9: 39,750,415 (GRCm38) T10P probably benign Het
Otoa G A 7: 121,127,776 (GRCm38) probably benign Het
Otud3 A C 4: 138,895,748 (GRCm38) L394R probably damaging Het
Pde5a T C 3: 122,747,897 (GRCm38) V12A probably damaging Het
Plec C T 15: 76,186,218 (GRCm38) V931M probably damaging Het
Prr27 A G 5: 87,843,047 (GRCm38) I173V possibly damaging Het
Psg29 T C 7: 17,210,353 (GRCm38) C263R probably damaging Het
Ptprm T C 17: 66,689,366 (GRCm38) Y1242C probably damaging Het
Retsat C T 6: 72,606,575 (GRCm38) R84* probably null Het
Rif1 G A 2: 52,112,392 (GRCm38) V1953I possibly damaging Het
Ros1 A T 10: 52,123,379 (GRCm38) N1137K probably damaging Het
Scn1a T C 2: 66,322,276 (GRCm38) H787R probably benign Het
Sec16a T C 2: 26,439,186 (GRCm38) E939G probably damaging Het
Sh2d4a G A 8: 68,331,155 (GRCm38) G247D possibly damaging Het
Siglec1 A G 2: 131,081,299 (GRCm38) S509P probably damaging Het
Slc25a30 A G 14: 75,763,330 (GRCm38) I278T probably damaging Het
Slc6a20a C T 9: 123,662,993 (GRCm38) V104I probably benign Het
Sp110 G C 1: 85,594,372 (GRCm38) T70S probably benign Het
Sphkap G A 1: 83,277,515 (GRCm38) R838* probably null Het
Stxbp1 A G 2: 32,806,719 (GRCm38) probably null Het
Tmem132b T C 5: 125,778,844 (GRCm38) probably null Het
Tnfsf13b G A 8: 10,031,661 (GRCm38) probably null Het
Trappc6a A G 7: 19,514,229 (GRCm38) E38G probably damaging Het
Trps1 T C 15: 50,661,213 (GRCm38) D857G probably damaging Het
Tspear T A 10: 77,864,884 (GRCm38) probably null Het
Vmn1r23 A T 6: 57,925,925 (GRCm38) N289K possibly damaging Het
Zcchc8 G A 5: 123,700,373 (GRCm38) Q701* probably null Het
Zfp618 A T 4: 63,086,634 (GRCm38) 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
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
R9188:Gabrp UTSW 11 33,567,252 (GRCm38) missense possibly damaging 0.92
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 2014-05-23