Incidental Mutation 'R6872:Gabra2'
ID 536198
Institutional Source Beutler Lab
Gene Symbol Gabra2
Ensembl Gene ENSMUSG00000000560
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 2
Synonyms C630048P16Rik, Gabra-2
MMRRC Submission 044969-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 71115735-71253192 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 71251882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 22 (P22T)
Ref Sequence ENSEMBL: ENSMUSP00000000572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000572] [ENSMUST00000197284] [ENSMUST00000198625]
AlphaFold P26048
Predicted Effect probably damaging
Transcript: ENSMUST00000000572
AA Change: P22T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000572
Gene: ENSMUSG00000000560
AA Change: P22T

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Neur_chan_LBD 42 250 1.9e-51 PFAM
Pfam:Neur_chan_memb 257 344 1.2e-32 PFAM
low complexity region 364 375 N/A INTRINSIC
low complexity region 392 410 N/A INTRINSIC
transmembrane domain 423 440 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197284
AA Change: P22T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: P22T

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Neur_chan_LBD 42 250 2.7e-53 PFAM
Pfam:Neur_chan_memb 257 354 5.6e-38 PFAM
Pfam:Neur_chan_memb 343 437 1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198625
AA Change: P22T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143645
Gene: ENSMUSG00000000560
AA Change: P22T

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
SCOP:d1i9ba_ 47 87 7e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Ap3d1 G A 10: 80,550,156 (GRCm39) R692* probably null Het
Aqp2 C T 15: 99,481,885 (GRCm39) H260Y probably benign Het
Btbd2 C A 10: 80,480,166 (GRCm39) R383L probably damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Col12a1 A T 9: 79,584,516 (GRCm39) N1357K probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Ddo A C 10: 40,513,414 (GRCm39) M119L possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Eng T A 2: 32,563,287 (GRCm39) I281N probably damaging Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Gsdmc T C 15: 63,650,556 (GRCm39) D275G possibly damaging Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Lmod1 G T 1: 135,292,879 (GRCm39) R578L probably damaging Het
Mindy2 A G 9: 70,524,044 (GRCm39) probably null Het
Neb G T 2: 52,183,657 (GRCm39) Q1004K probably damaging Het
Nkx2-9 T G 12: 56,658,674 (GRCm39) N180T probably benign Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nol4l T C 2: 153,325,737 (GRCm39) E116G probably damaging Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Or5ac19 A G 16: 59,089,961 (GRCm39) L23P probably benign Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Ramp3 T C 11: 6,624,768 (GRCm39) C21R possibly damaging Het
Rpap1 A C 2: 119,605,850 (GRCm39) M345R probably damaging Het
Serpina3k A C 12: 104,310,519 (GRCm39) K350Q probably benign Het
St13 C T 15: 81,250,547 (GRCm39) probably null Het
Stard9 A T 2: 120,544,549 (GRCm39) K4497* probably null Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Trim69 A G 2: 121,998,391 (GRCm39) E121G probably damaging Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zbtb7a A G 10: 80,983,905 (GRCm39) N449S possibly damaging Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp462 G A 4: 55,012,326 (GRCm39) A1431T probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Zfp706 T C 15: 37,002,190 (GRCm39) T46A possibly damaging Het
Other mutations in Gabra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Gabra2 APN 5 71,119,415 (GRCm39) missense probably benign
IGL01084:Gabra2 APN 5 71,163,576 (GRCm39) missense probably damaging 1.00
IGL01948:Gabra2 APN 5 71,119,228 (GRCm39) missense probably damaging 1.00
IGL01965:Gabra2 APN 5 71,165,418 (GRCm39) splice site probably benign
IGL03263:Gabra2 APN 5 71,130,836 (GRCm39) missense probably damaging 1.00
R0005:Gabra2 UTSW 5 71,130,779 (GRCm39) missense probably benign 0.00
R0751:Gabra2 UTSW 5 71,249,442 (GRCm39) splice site probably benign
R1025:Gabra2 UTSW 5 71,130,938 (GRCm39) missense probably damaging 1.00
R1713:Gabra2 UTSW 5 71,171,906 (GRCm39) missense probably benign 0.24
R1964:Gabra2 UTSW 5 71,171,793 (GRCm39) missense possibly damaging 0.91
R3861:Gabra2 UTSW 5 71,130,886 (GRCm39) missense probably damaging 1.00
R4190:Gabra2 UTSW 5 71,165,341 (GRCm39) missense probably benign 0.00
R4192:Gabra2 UTSW 5 71,165,341 (GRCm39) missense probably benign 0.00
R4193:Gabra2 UTSW 5 71,165,341 (GRCm39) missense probably benign 0.00
R6281:Gabra2 UTSW 5 71,192,105 (GRCm39) missense probably damaging 1.00
R6419:Gabra2 UTSW 5 71,119,426 (GRCm39) missense probably benign 0.00
R6814:Gabra2 UTSW 5 71,251,882 (GRCm39) missense probably damaging 1.00
R7922:Gabra2 UTSW 5 71,165,315 (GRCm39) nonsense probably null
R8253:Gabra2 UTSW 5 71,249,413 (GRCm39) missense probably benign 0.00
R8679:Gabra2 UTSW 5 71,170,040 (GRCm39) splice site probably benign
R8953:Gabra2 UTSW 5 71,163,525 (GRCm39) missense probably damaging 1.00
R9593:Gabra2 UTSW 5 71,165,353 (GRCm39) missense possibly damaging 0.95
R9659:Gabra2 UTSW 5 71,192,140 (GRCm39) missense probably benign 0.00
R9788:Gabra2 UTSW 5 71,192,140 (GRCm39) missense probably benign 0.00
Z1177:Gabra2 UTSW 5 71,165,335 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- CCTGATAGGGTAGTCGCTTCTTC -3'
(R):5'- GTAGACAGGAGTAACATCCCCTCC -3'

Sequencing Primer
(F):5'- GGTAGTCGCTTCTTCAATTAAATGCC -3'
(R):5'- GGAGTAACATCCCCTCCTAATTG -3'
Posted On 2018-10-18