Incidental Mutation 'R8250:Gabrg2'
ID 640293
Institutional Source Beutler Lab
Gene Symbol Gabrg2
Ensembl Gene ENSMUSG00000020436
Gene Name gamma-aminobutyric acid type A receptor, subunit gamma 2
Synonyms GABAA-R, Gabrg-2, gamma2
MMRRC Submission 067676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R8250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 41801030-41891684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41858379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 250 (V250I)
Ref Sequence ENSEMBL: ENSMUSP00000063812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070725] [ENSMUST00000070735] [ENSMUST00000109290]
AlphaFold P22723
Predicted Effect probably benign
Transcript: ENSMUST00000070725
AA Change: V250I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: V250I

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
Pfam:Neur_chan_LBD 65 271 2.7e-55 PFAM
Pfam:Neur_chan_memb 278 408 1.8e-46 PFAM
transmembrane domain 442 464 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070735
AA Change: V250I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: V250I

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
Pfam:Neur_chan_LBD 65 271 2.9e-53 PFAM
Pfam:Neur_chan_memb 278 419 2.2e-38 PFAM
transmembrane domain 450 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109290
AA Change: V250I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: V250I

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
Pfam:Neur_chan_LBD 65 271 1.2e-55 PFAM
Pfam:Neur_chan_memb 278 381 4.3e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a gamma-aminobutyric acid (GABA)-A receptor subunit, which is a member of the ligand-gated ion channel family. GABA is the major inhibitory neurotransmitter in the adult central nervous system, and conversely exhibits an excitatory function during development. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. This gene encodes one of three gamma subunits in mammals, which contain the binding site for benzodiazepine drugs. Several mutations in this gene are associated with epileptic seizures, and genetic knockdown is associated with anxiety behavior. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,260,846 (GRCm39) E1027V probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Bltp1 T C 3: 36,971,811 (GRCm39) S515P probably damaging Het
Ccdc27 A T 4: 154,126,245 (GRCm39) D81E unknown Het
Csrnp3 A G 2: 65,852,562 (GRCm39) E330G probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Ftcd T G 10: 76,417,461 (GRCm39) I300R probably damaging Het
Fxr1 T A 3: 34,101,178 (GRCm39) Y161* probably null Het
Gmcl1 T C 6: 86,698,384 (GRCm39) D171G possibly damaging Het
Grk2 A G 19: 4,339,962 (GRCm39) F375S probably damaging Het
Kat2b T A 17: 53,970,564 (GRCm39) I650N probably damaging Het
Lhfpl6 T C 3: 52,950,759 (GRCm39) I11T probably benign Het
Mbtd1 A G 11: 93,801,176 (GRCm39) Y141C probably damaging Het
Mon1b A T 8: 114,366,351 (GRCm39) E449V probably damaging Het
Mrpl47 T C 3: 32,785,382 (GRCm39) N112S probably damaging Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Notch3 T C 17: 32,351,310 (GRCm39) N1895S probably damaging Het
Nuggc A G 14: 65,879,318 (GRCm39) I693V probably benign Het
Oip5 A G 2: 119,446,110 (GRCm39) S133P probably benign Het
Opcml A G 9: 28,586,566 (GRCm39) I95V probably damaging Het
Or10v1 A T 19: 11,873,741 (GRCm39) M119L probably damaging Het
Or52l1 T C 7: 104,830,518 (GRCm39) M16V Het
Or8k20 T C 2: 86,106,498 (GRCm39) E111G probably damaging Het
P2rx3 A C 2: 84,852,735 (GRCm39) V221G probably damaging Het
Prr27 A G 5: 87,990,556 (GRCm39) N56S possibly damaging Het
Psmd11 T C 11: 80,336,752 (GRCm39) S135P possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sall3 T C 18: 81,016,743 (GRCm39) D395G probably benign Het
Scube2 T C 7: 109,463,377 (GRCm39) N62S probably benign Het
Sema6a A T 18: 47,423,182 (GRCm39) S275T probably damaging Het
Sirpb1a A T 3: 15,444,104 (GRCm39) L382Q possibly damaging Het
Snrpn T A 7: 59,636,633 (GRCm39) probably null Het
Sox5 A T 6: 144,100,777 (GRCm39) S71T possibly damaging Het
Synpo2l G T 14: 20,712,344 (GRCm39) T321K probably benign Het
Tex15 G A 8: 34,055,233 (GRCm39) E285K probably null Het
Tmem126b G A 7: 90,118,317 (GRCm39) L188F probably damaging Het
Ttll2 T C 17: 7,618,767 (GRCm39) T387A probably benign Het
Ttn A G 2: 76,667,155 (GRCm39) Y11484H unknown Het
Vmn2r76 T A 7: 85,875,231 (GRCm39) Y582F possibly damaging Het
Zfp786 A T 6: 47,797,729 (GRCm39) L403Q possibly damaging Het
Other mutations in Gabrg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:Gabrg2 APN 11 41,862,599 (GRCm39) missense possibly damaging 0.87
IGL00787:Gabrg2 APN 11 41,803,349 (GRCm39) missense probably benign 0.00
IGL01941:Gabrg2 APN 11 41,862,548 (GRCm39) missense probably damaging 1.00
IGL02801:Gabrg2 APN 11 41,803,220 (GRCm39) missense probably damaging 1.00
R0376:Gabrg2 UTSW 11 41,807,142 (GRCm39) missense possibly damaging 0.92
R1607:Gabrg2 UTSW 11 41,867,490 (GRCm39) missense probably damaging 0.98
R1934:Gabrg2 UTSW 11 41,811,297 (GRCm39) missense probably benign 0.10
R2226:Gabrg2 UTSW 11 41,862,735 (GRCm39) missense probably damaging 1.00
R2281:Gabrg2 UTSW 11 41,867,463 (GRCm39) missense possibly damaging 0.72
R4013:Gabrg2 UTSW 11 41,862,707 (GRCm39) missense possibly damaging 0.83
R4675:Gabrg2 UTSW 11 41,859,650 (GRCm39) missense probably damaging 1.00
R4869:Gabrg2 UTSW 11 41,811,231 (GRCm39) missense probably damaging 1.00
R5282:Gabrg2 UTSW 11 41,862,559 (GRCm39) missense probably damaging 1.00
R5316:Gabrg2 UTSW 11 41,867,385 (GRCm39) missense probably damaging 1.00
R5729:Gabrg2 UTSW 11 41,858,450 (GRCm39) missense probably damaging 1.00
R5876:Gabrg2 UTSW 11 41,859,647 (GRCm39) missense probably damaging 1.00
R6279:Gabrg2 UTSW 11 41,891,350 (GRCm39) splice site probably null
R6300:Gabrg2 UTSW 11 41,891,350 (GRCm39) splice site probably null
R6315:Gabrg2 UTSW 11 41,862,688 (GRCm39) missense probably damaging 0.99
R7181:Gabrg2 UTSW 11 41,811,261 (GRCm39) missense probably damaging 1.00
R7182:Gabrg2 UTSW 11 41,811,333 (GRCm39) missense probably damaging 0.98
R7368:Gabrg2 UTSW 11 41,867,390 (GRCm39) nonsense probably null
R7568:Gabrg2 UTSW 11 41,807,119 (GRCm39) missense probably benign 0.05
R7599:Gabrg2 UTSW 11 41,858,451 (GRCm39) missense possibly damaging 0.79
R7901:Gabrg2 UTSW 11 41,867,418 (GRCm39) missense probably benign 0.00
R7940:Gabrg2 UTSW 11 41,858,474 (GRCm39) missense probably benign 0.06
R8899:Gabrg2 UTSW 11 41,867,377 (GRCm39) nonsense probably null
R9043:Gabrg2 UTSW 11 41,865,662 (GRCm39) missense probably damaging 0.98
R9382:Gabrg2 UTSW 11 41,858,433 (GRCm39) missense probably benign 0.43
R9720:Gabrg2 UTSW 11 41,862,673 (GRCm39) missense probably damaging 1.00
X0065:Gabrg2 UTSW 11 41,803,196 (GRCm39) missense probably damaging 1.00
Z1191:Gabrg2 UTSW 11 41,807,104 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTCTGCAACTAGAATACCAGC -3'
(R):5'- GAGGCAAATTCCACAAGGC -3'

Sequencing Primer
(F):5'- ACTAGAATACCAGCTATCATTTTGTC -3'
(R):5'- AGTCCAGTGTGCTCATATGAC -3'
Posted On 2020-07-28