Incidental Mutation 'R5215:Gabra1'
ID 403431
Institutional Source Beutler Lab
Gene Symbol Gabra1
Ensembl Gene ENSMUSG00000010803
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 1
Synonyms GABAA alpha 1, Gabra-1, GABAAR alpha1
MMRRC Submission 042788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R5215 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 42021766-42073757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42045655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 152 (T152A)
Ref Sequence ENSEMBL: ENSMUSP00000146133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020707] [ENSMUST00000153147] [ENSMUST00000205546] [ENSMUST00000206105] [ENSMUST00000207274]
AlphaFold P62812
Predicted Effect probably damaging
Transcript: ENSMUST00000020707
AA Change: T152A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020707
Gene: ENSMUSG00000010803
AA Change: T152A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Neur_chan_LBD 41 249 1.5e-52 PFAM
Pfam:Neur_chan_memb 256 347 8.6e-33 PFAM
low complexity region 395 411 N/A INTRINSIC
transmembrane domain 420 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153147
SMART Domains Protein: ENSMUSP00000129056
Gene: ENSMUSG00000010803

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SCOP:d1i9ba_ 46 84 2e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205546
AA Change: T152A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206105
AA Change: T152A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000207274
AA Change: T152A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.1811 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 C A 9: 106,120,574 (GRCm39) A73S probably benign Het
Aldoart2 G A 12: 55,612,204 (GRCm39) R43Q probably benign Het
Ano4 T C 10: 89,153,165 (GRCm39) H49R possibly damaging Het
Atic T C 1: 71,603,666 (GRCm39) S161P probably damaging Het
Atp6v1c2 T C 12: 17,341,659 (GRCm39) E244G probably benign Het
Cd164l2 C A 4: 132,948,789 (GRCm39) L42I unknown Het
Cdc42ep2 T C 19: 5,968,238 (GRCm39) R156G probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdk5 T A 5: 24,624,459 (GRCm39) N265I probably benign Het
Cfap69 G T 5: 5,639,133 (GRCm39) N262K possibly damaging Het
Chd6 C T 2: 160,791,873 (GRCm39) V2495M probably damaging Het
Cps1 T A 1: 67,205,539 (GRCm39) F521I possibly damaging Het
Crb2 A G 2: 37,683,765 (GRCm39) E1089G probably benign Het
Decr1 T C 4: 15,929,795 (GRCm39) D166G probably damaging Het
Dhodh G A 8: 110,332,975 (GRCm39) probably benign Het
Dnaaf5 G A 5: 139,147,632 (GRCm39) V399I probably benign Het
Dnah11 T C 12: 118,121,096 (GRCm39) T526A probably benign Het
Drosha T C 15: 12,885,219 (GRCm39) probably benign Het
Elfn2 T A 15: 78,558,401 (GRCm39) I49F probably damaging Het
Gigyf2 C A 1: 87,292,988 (GRCm39) T85K probably damaging Het
Gimap8 A T 6: 48,628,017 (GRCm39) Y258F possibly damaging Het
Glmn A G 5: 107,709,752 (GRCm39) C351R probably benign Het
Gm10032 T C 14: 67,029,998 (GRCm39) noncoding transcript Het
Gorasp2 G A 2: 70,519,598 (GRCm39) A328T probably benign Het
Grin1 A T 2: 25,193,919 (GRCm39) H392Q probably benign Het
Gzmn A G 14: 56,405,319 (GRCm39) V55A probably damaging Het
Herc4 T A 10: 63,124,876 (GRCm39) S497T probably benign Het
Hrc A T 7: 44,985,515 (GRCm39) D222V probably damaging Het
Iars2 T C 1: 185,026,966 (GRCm39) H761R probably damaging Het
Jmjd1c T A 10: 67,076,480 (GRCm39) D2101E possibly damaging Het
Kcng1 C T 2: 168,105,053 (GRCm39) M264I probably benign Het
Klra14-ps C A 6: 130,134,646 (GRCm39) noncoding transcript Het
Krtap5-3 T A 7: 141,755,974 (GRCm39) C270* probably null Het
Lama3 A G 18: 12,710,957 (GRCm39) H3164R probably damaging Het
Lcor T C 19: 41,574,371 (GRCm39) I1042T probably damaging Het
Mdn1 T C 4: 32,741,418 (GRCm39) M3840T possibly damaging Het
Mtor A T 4: 148,538,440 (GRCm39) H166L probably benign Het
Mx1 T C 16: 97,249,560 (GRCm39) N556D possibly damaging Het
Oca2 A T 7: 55,945,246 (GRCm39) R285* probably null Het
Or12d13 T A 17: 37,647,704 (GRCm39) I140F probably benign Het
Or2at1 A G 7: 99,416,717 (GRCm39) E116G probably damaging Het
Or4k39 T C 2: 111,239,631 (GRCm39) noncoding transcript Het
Or56a3b G A 7: 104,775,771 (GRCm39) H246Y probably damaging Het
Or8g33 A T 9: 39,337,919 (GRCm39) Y149* probably null Het
Pan3 A G 5: 147,391,915 (GRCm39) probably null Het
Pard3 G A 8: 128,104,745 (GRCm39) V496M probably damaging Het
Pdcd2l A T 7: 33,892,314 (GRCm39) V185D possibly damaging Het
Pgghg T C 7: 140,526,477 (GRCm39) V623A possibly damaging Het
Pigu C A 2: 155,177,249 (GRCm39) probably benign Het
Pkmyt1 G A 17: 23,951,566 (GRCm39) R40Q probably benign Het
Prag1 G A 8: 36,567,043 (GRCm39) A65T probably benign Het
Prkdc C A 16: 15,589,985 (GRCm39) T2616N possibly damaging Het
Prpf8 G A 11: 75,391,030 (GRCm39) E1360K probably benign Het
Ptprt C T 2: 162,120,084 (GRCm39) V128M probably damaging Het
Rp1l1 C T 14: 64,267,462 (GRCm39) S1016L probably benign Het
Rprd1a G T 18: 24,621,257 (GRCm39) D307E probably damaging Het
Slc11a1 A T 1: 74,422,936 (GRCm39) probably benign Het
Slc22a16 T A 10: 40,457,386 (GRCm39) M209K probably damaging Het
Slf2 T G 19: 44,936,476 (GRCm39) L707R probably damaging Het
Son T A 16: 91,453,563 (GRCm39) M770K probably damaging Het
Taf6l T C 19: 8,755,417 (GRCm39) probably benign Het
Tbc1d2 C A 4: 46,614,006 (GRCm39) V692L probably benign Het
Tnpo3 C T 6: 29,582,152 (GRCm39) probably benign Het
Txndc16 A T 14: 45,448,597 (GRCm39) probably benign Het
Ubr1 T C 2: 120,734,525 (GRCm39) K1125R probably benign Het
Vmn2r9 A G 5: 108,994,351 (GRCm39) S433P probably benign Het
Zc3h12a A G 4: 125,020,706 (GRCm39) S46P probably benign Het
Zwilch T G 9: 64,054,156 (GRCm39) I490L probably benign Het
Other mutations in Gabra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Gabra1 APN 11 42,024,453 (GRCm39) missense probably benign 0.06
IGL01645:Gabra1 APN 11 42,026,389 (GRCm39) missense probably damaging 1.00
IGL01893:Gabra1 APN 11 42,024,586 (GRCm39) missense possibly damaging 0.80
IGL02114:Gabra1 APN 11 42,026,402 (GRCm39) missense probably damaging 1.00
IGL02378:Gabra1 APN 11 42,031,082 (GRCm39) missense probably damaging 1.00
IGL03402:Gabra1 APN 11 42,024,345 (GRCm39) missense probably damaging 0.96
opulence UTSW 11 42,053,382 (GRCm39) missense probably benign 0.08
Splendor UTSW 11 42,026,270 (GRCm39) missense possibly damaging 0.94
R0546:Gabra1 UTSW 11 42,053,428 (GRCm39) missense probably damaging 0.96
R1495:Gabra1 UTSW 11 42,045,771 (GRCm39) missense probably damaging 1.00
R1538:Gabra1 UTSW 11 42,031,177 (GRCm39) missense probably benign 0.19
R1850:Gabra1 UTSW 11 42,070,403 (GRCm39) missense probably benign
R1989:Gabra1 UTSW 11 42,045,842 (GRCm39) missense probably damaging 1.00
R2061:Gabra1 UTSW 11 42,024,625 (GRCm39) unclassified probably benign
R3758:Gabra1 UTSW 11 42,066,763 (GRCm39) missense probably benign 0.25
R4781:Gabra1 UTSW 11 42,024,488 (GRCm39) missense probably damaging 0.98
R4788:Gabra1 UTSW 11 42,037,980 (GRCm39) missense probably damaging 1.00
R5306:Gabra1 UTSW 11 42,024,379 (GRCm39) missense probably benign 0.00
R5655:Gabra1 UTSW 11 42,073,750 (GRCm39) splice site probably null
R5789:Gabra1 UTSW 11 42,073,742 (GRCm39) unclassified probably benign
R6273:Gabra1 UTSW 11 42,031,138 (GRCm39) missense probably damaging 0.99
R6289:Gabra1 UTSW 11 42,045,846 (GRCm39) missense probably damaging 0.97
R6298:Gabra1 UTSW 11 42,073,205 (GRCm39) unclassified probably benign
R6475:Gabra1 UTSW 11 42,053,382 (GRCm39) missense probably benign 0.08
R6552:Gabra1 UTSW 11 42,037,926 (GRCm39) missense probably damaging 0.99
R7338:Gabra1 UTSW 11 42,073,121 (GRCm39) missense unknown
R7405:Gabra1 UTSW 11 42,045,850 (GRCm39) missense probably damaging 1.00
R7515:Gabra1 UTSW 11 42,045,660 (GRCm39) missense possibly damaging 0.95
R7725:Gabra1 UTSW 11 42,026,270 (GRCm39) missense possibly damaging 0.94
R7727:Gabra1 UTSW 11 42,024,418 (GRCm39) missense probably damaging 1.00
R8193:Gabra1 UTSW 11 42,037,968 (GRCm39) missense probably damaging 1.00
R8319:Gabra1 UTSW 11 42,026,315 (GRCm39) missense probably damaging 1.00
R8362:Gabra1 UTSW 11 42,066,831 (GRCm39) missense probably benign 0.15
R8890:Gabra1 UTSW 11 42,024,553 (GRCm39) missense probably benign 0.00
R8905:Gabra1 UTSW 11 42,038,052 (GRCm39) missense possibly damaging 0.95
R8918:Gabra1 UTSW 11 42,026,320 (GRCm39) missense probably damaging 1.00
R9295:Gabra1 UTSW 11 42,044,217 (GRCm39) missense probably damaging 1.00
R9601:Gabra1 UTSW 11 42,026,401 (GRCm39) missense probably damaging 1.00
R9651:Gabra1 UTSW 11 42,045,853 (GRCm39) missense probably damaging 1.00
R9789:Gabra1 UTSW 11 42,024,352 (GRCm39) missense probably damaging 1.00
X0066:Gabra1 UTSW 11 42,024,565 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GTCTTTCTTAAGATGGCCTAGCC -3'
(R):5'- TTTCCGTCAAAGTTGGAAGGATG -3'

Sequencing Primer
(F):5'- TGGAAGGCTTGCCTTGCTACC -3'
(R):5'- CGGCTAAACAACCTTATGG -3'
Posted On 2016-07-22