Incidental Mutation 'R2829:Gabra5'
ID 254228
Institutional Source Beutler Lab
Gene Symbol Gabra5
Ensembl Gene ENSMUSG00000055078
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 5
Synonyms A230018I05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R2829 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 57057420-57159807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57140583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 38 (V38A)
Ref Sequence ENSEMBL: ENSMUSP00000145685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068456] [ENSMUST00000085240] [ENSMUST00000206382] [ENSMUST00000206734]
AlphaFold Q8BHJ7
Predicted Effect probably benign
Transcript: ENSMUST00000068456
AA Change: V38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: V38A

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 benign
Transcript: ENSMUST00000206382
AA Change: V38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206734
AA Change: V38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 T C 10: 88,948,801 (GRCm39) E103G possibly damaging Het
Arid2 C T 15: 96,267,335 (GRCm39) P605L possibly damaging Het
Cts6 T A 13: 61,349,311 (GRCm39) R132S probably benign Het
Cylc2 A G 4: 51,229,798 (GRCm39) D380G unknown Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc8b1 T C 5: 120,662,078 (GRCm39) S256P probably benign Het
Uggt1 T C 1: 36,201,375 (GRCm39) T1122A probably benign Het
Vmn2r54 T C 7: 12,349,617 (GRCm39) D655G possibly 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
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
R5360:Gabra5 UTSW 7 57,140,533 (GRCm39) missense probably damaging 1.00
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'- AAGTTCAGTTGGAGTATCTTTACGG -3'
(R):5'- CCATTTGGCCTAGAGCAGAAG -3'

Sequencing Primer
(F):5'- ACGGTTAAGGGTGATTTCTCC -3'
(R):5'- TCCAGGGCTCATTAAAGGAATC -3'
Posted On 2014-12-04