Incidental Mutation 'IGL02750:Gabra5'
ID 306245
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02750
Quality Score
Status
Chromosome 7
Chromosomal Location 57057420-57159807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57157739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 25 (S25Y)
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: S25Y

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000063276
Gene: ENSMUSG00000055078
AA Change: S25Y

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: S25Y

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000206734
AA Change: S25Y

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,460,087 (GRCm39) K884R probably benign Het
Ano3 T A 2: 110,496,329 (GRCm39) probably benign Het
Baz2b C A 2: 59,799,002 (GRCm39) S374I possibly damaging Het
Brd4 G A 17: 32,417,353 (GRCm39) probably benign Het
Cd3g C A 9: 44,882,608 (GRCm39) probably benign Het
Ckmt1 C T 2: 121,194,096 (GRCm39) probably benign Het
Clcnkb T C 4: 141,132,673 (GRCm39) probably null Het
Dkkl1 C T 7: 44,859,536 (GRCm39) probably null Het
Ehmt1 G A 2: 24,753,881 (GRCm39) T161I probably damaging Het
Ern2 A G 7: 121,780,629 (GRCm39) probably benign Het
Fmnl2 T C 2: 52,993,709 (GRCm39) I368T possibly damaging Het
Gemin7 C T 7: 19,299,344 (GRCm39) V84M probably null Het
Gm17654 A G 14: 43,815,656 (GRCm39) probably benign Het
Grk6 T C 13: 55,599,356 (GRCm39) F186S probably damaging Het
Gtf2ird2 A G 5: 134,245,731 (GRCm39) H663R probably damaging Het
Gtf3c1 T A 7: 125,275,684 (GRCm39) I581F probably damaging Het
Herc2 T A 7: 55,854,127 (GRCm39) probably benign Het
Hook3 A T 8: 26,585,782 (GRCm39) probably benign Het
Ints4 T A 7: 97,166,964 (GRCm39) probably null Het
Kpna6 T C 4: 129,555,170 (GRCm39) N20D probably damaging Het
Krtap29-1 T C 11: 99,869,510 (GRCm39) S124G probably benign Het
Krtap4-16 C A 11: 99,742,106 (GRCm39) R98L possibly damaging Het
Lrrc28 T C 7: 67,181,431 (GRCm39) D268G probably damaging Het
Mcm6 T A 1: 128,271,209 (GRCm39) Q470L probably damaging Het
Neb T C 2: 52,181,067 (GRCm39) H1180R probably benign Het
Nxpe3 C A 16: 55,680,738 (GRCm39) V285L probably benign Het
Or10al2 T A 17: 37,983,500 (GRCm39) C195* probably null Het
Or14a260 T A 7: 85,984,752 (GRCm39) N284I probably damaging Het
Or4k37 A G 2: 111,159,633 (GRCm39) R290G probably damaging Het
Pdcd1 A G 1: 93,967,269 (GRCm39) probably benign Het
Pnkp A G 7: 44,509,611 (GRCm39) probably benign Het
Pou4f2 A T 8: 79,161,692 (GRCm39) F304I probably damaging Het
Rita1 G A 5: 120,747,716 (GRCm39) T194M possibly damaging Het
Rnpc3 T C 3: 113,415,588 (GRCm39) T150A possibly damaging Het
Sema3b T C 9: 107,480,363 (GRCm39) T168A probably benign Het
Skint5 T A 4: 113,396,559 (GRCm39) M1205L unknown Het
Sox13 A C 1: 133,311,534 (GRCm39) I566S probably benign Het
Tbc1d32 T C 10: 56,074,587 (GRCm39) T209A possibly damaging Het
Tonsl G T 15: 76,517,589 (GRCm39) P710Q probably damaging Het
Trpm5 T C 7: 142,628,221 (GRCm39) H1018R possibly damaging Het
Ubr2 A T 17: 47,280,208 (GRCm39) M647K probably benign Het
Ubr7 A T 12: 102,737,537 (GRCm39) T395S possibly damaging Het
Uri1 G A 7: 37,666,906 (GRCm39) R176* probably null Het
Vmn1r188 A T 13: 22,272,900 (GRCm39) I285F probably damaging Het
Vmn2r116 T A 17: 23,616,608 (GRCm39) probably benign Het
Vmn2r2 C A 3: 64,024,823 (GRCm39) C586F probably damaging Het
Vmn2r96 T A 17: 18,802,851 (GRCm39) W62R probably benign Het
Zfp24 A T 18: 24,150,410 (GRCm39) S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 (GRCm39) K1254R probably null 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
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
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
Posted On 2015-04-16