Incidental Mutation 'R5360:Gabra5'
ID 424287
Institutional Source Beutler Lab
Gene Symbol Gabra5
Ensembl Gene ENSMUSG00000055078
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 5
Synonyms A230018I05Rik
MMRRC Submission 042939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R5360 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 57057420-57159807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57140533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 55 (G55R)
Ref Sequence ENSEMBL: ENSMUSP00000145685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068456] [ENSMUST00000085240] [ENSMUST00000206382] [ENSMUST00000206734]
AlphaFold Q8BHJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000068456
AA Change: G55R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: G55R

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Neur_chan_LBD 49 257 3e-50 PFAM
Pfam:Neur_chan_memb 264 375 2.3e-33 PFAM
low complexity region 407 419 N/A INTRINSIC
transmembrane domain 432 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085240
SMART Domains Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neur_chan_LBD 37 243 5.1e-51 PFAM
Pfam:Neur_chan_memb 250 468 1.8e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206382
AA Change: G55R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206734
AA Change: G55R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice having disruptions in this gene display abnormalities in hearing and in ear structure. Subtle abnormalities in learning and in conditioning have also been reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T A 19: 55,279,592 (GRCm39) Y443* probably null Het
Aox3 C T 1: 58,185,667 (GRCm39) T331M probably damaging Het
Arhgap32 G A 9: 32,170,967 (GRCm39) R1598H probably damaging Het
Atp1a2 A G 1: 172,106,436 (GRCm39) probably null Het
Brpf3 A T 17: 29,029,536 (GRCm39) M499L probably benign Het
Cacnb1 A T 11: 97,909,097 (GRCm39) probably null Het
Cep295 A G 9: 15,238,029 (GRCm39) S1899P probably damaging Het
Cntn2 A G 1: 132,446,595 (GRCm39) Y748H probably damaging Het
Csmd3 T A 15: 47,532,599 (GRCm39) Y2532F probably damaging Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dsg1a A G 18: 20,474,011 (GRCm39) D1028G probably damaging Het
Eif1ad16 A C 12: 87,985,265 (GRCm39) L93V probably benign Het
Elp1 A T 4: 56,800,104 (GRCm39) H7Q probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gdf9 T A 11: 53,328,034 (GRCm39) F330Y probably benign Het
Gimap8 T C 6: 48,633,236 (GRCm39) S352P probably damaging Het
Gm4952 A T 19: 12,600,993 (GRCm39) H71L probably benign Het
Gnaq G A 19: 16,110,790 (GRCm39) R34H probably benign Het
Hebp2 T C 10: 18,420,055 (GRCm39) D126G probably benign Het
Hectd4 A G 5: 121,453,464 (GRCm39) D601G possibly damaging Het
Hook2 T C 8: 85,728,033 (GRCm39) Y577H probably damaging Het
Igfals A G 17: 25,099,067 (GRCm39) T53A probably benign Het
Igsf9b A G 9: 27,222,968 (GRCm39) D123G probably damaging Het
Ilrun A T 17: 28,013,020 (GRCm39) I59N probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mdm4 A T 1: 132,919,396 (GRCm39) *490K probably null Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Neurl2 C A 2: 164,675,021 (GRCm39) A114S probably damaging Het
Nuggc A G 14: 65,876,075 (GRCm39) T563A probably damaging Het
Or8g32 T G 9: 39,305,698 (GRCm39) F204V probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pdlim1 A T 19: 40,218,993 (GRCm39) S213T probably damaging Het
Pitx1 T C 13: 55,976,291 (GRCm39) I123V probably damaging Het
Pkd1l1 T C 11: 8,829,204 (GRCm39) N1013D probably benign Het
Pla2g2c T A 4: 138,461,656 (GRCm39) Y42N possibly damaging Het
Polr2b G A 5: 77,496,993 (GRCm39) A1168T possibly damaging Het
Ppp2r2a G A 14: 67,254,020 (GRCm39) R383* probably null Het
Prl7a2 C T 13: 27,843,143 (GRCm39) R220H probably benign Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rc3h2 A G 2: 37,279,867 (GRCm39) V454A possibly damaging Het
Robo1 A G 16: 72,732,665 (GRCm39) T307A probably damaging Het
Slc22a6 T C 19: 8,596,786 (GRCm39) L188P probably damaging Het
Spag17 A G 3: 100,016,726 (GRCm39) N2167S probably benign Het
Spag5 G A 11: 78,205,588 (GRCm39) E680K probably damaging Het
Spata6 A G 4: 111,680,026 (GRCm39) Y428C possibly damaging Het
Tbc1d5 T C 17: 51,291,660 (GRCm39) D47G probably benign Het
Trp53 T C 11: 69,479,566 (GRCm39) probably null Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttc39b T C 4: 83,180,084 (GRCm39) D103G probably damaging Het
Ttn A C 2: 76,750,322 (GRCm39) W3576G probably benign Het
Yeats2 T A 16: 19,972,912 (GRCm39) M22K probably damaging Het
Other mutations in Gabra5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Gabra5 APN 7 57,138,736 (GRCm39) missense probably damaging 1.00
IGL01475:Gabra5 APN 7 57,058,432 (GRCm39) missense probably damaging 1.00
IGL02750:Gabra5 APN 7 57,157,739 (GRCm39) missense probably benign 0.01
PIT4581001:Gabra5 UTSW 7 57,138,605 (GRCm39) missense probably damaging 1.00
R0003:Gabra5 UTSW 7 57,063,476 (GRCm39) missense probably damaging 1.00
R1519:Gabra5 UTSW 7 57,058,641 (GRCm39) missense probably benign 0.39
R1740:Gabra5 UTSW 7 57,071,590 (GRCm39) missense probably benign
R1766:Gabra5 UTSW 7 57,157,796 (GRCm39) missense probably benign 0.05
R1865:Gabra5 UTSW 7 57,138,940 (GRCm39) nonsense probably null
R2024:Gabra5 UTSW 7 57,138,698 (GRCm39) missense probably damaging 1.00
R2143:Gabra5 UTSW 7 57,138,763 (GRCm39) missense probably damaging 1.00
R2444:Gabra5 UTSW 7 57,058,623 (GRCm39) missense probably benign
R2829:Gabra5 UTSW 7 57,140,583 (GRCm39) missense probably benign
R2966:Gabra5 UTSW 7 57,058,389 (GRCm39) missense probably damaging 0.99
R4014:Gabra5 UTSW 7 57,138,758 (GRCm39) missense probably damaging 1.00
R4876:Gabra5 UTSW 7 57,063,413 (GRCm39) missense probably damaging 1.00
R4936:Gabra5 UTSW 7 57,058,547 (GRCm39) missense probably benign 0.32
R5217:Gabra5 UTSW 7 57,140,604 (GRCm39) missense probably benign 0.00
R6021:Gabra5 UTSW 7 57,157,740 (GRCm39) missense probably benign 0.00
R6340:Gabra5 UTSW 7 57,063,496 (GRCm39) missense probably damaging 1.00
R6351:Gabra5 UTSW 7 57,063,528 (GRCm39) missense probably damaging 1.00
R6751:Gabra5 UTSW 7 57,068,082 (GRCm39) missense probably damaging 1.00
R7267:Gabra5 UTSW 7 57,140,529 (GRCm39) missense probably damaging 1.00
R9479:Gabra5 UTSW 7 57,058,440 (GRCm39) missense
R9487:Gabra5 UTSW 7 57,157,873 (GRCm39) start gained probably benign
R9785:Gabra5 UTSW 7 57,140,584 (GRCm39) missense probably benign 0.05
X0028:Gabra5 UTSW 7 57,138,659 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGACTACTTTCCTCCAGCTTCATG -3'
(R):5'- CCAAGGTCAGATGCCATGTG -3'

Sequencing Primer
(F):5'- CTCCAGCTTCATGAATCTGTAAAATG -3'
(R):5'- CAAGGTCAGATGCCATGTGAGTATTG -3'
Posted On 2016-08-04