Incidental Mutation 'R4869:Gabrg2'
ID 376431
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 042479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R4869 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 41801030-41891684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41811231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 305 (S305T)
Ref Sequence ENSEMBL: ENSMUSP00000104913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070725] [ENSMUST00000070735] [ENSMUST00000109290]
AlphaFold P22723
Predicted Effect possibly damaging
Transcript: ENSMUST00000070725
AA Change: S305T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: S305T

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 possibly damaging
Transcript: ENSMUST00000070735
AA Change: S305T

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: S305T

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 damaging
Transcript: ENSMUST00000109290
AA Change: S305T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: S305T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155032
Meta Mutation Damage Score 0.1291 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (102/103)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,161,488 (GRCm39) K943N probably damaging Het
Abca13 G A 11: 9,265,434 (GRCm39) probably null Het
Ankub1 A G 3: 57,597,751 (GRCm39) L73P probably damaging Het
Birc6 A G 17: 74,893,007 (GRCm39) I982V probably benign Het
Cabyr G T 18: 12,884,875 (GRCm39) *454L probably null Het
Ccdc57 C T 11: 120,794,344 (GRCm39) probably null Het
Cd209c A G 8: 3,994,077 (GRCm39) F128L probably benign Het
Cdh23 A T 10: 60,212,713 (GRCm39) I1566N probably damaging Het
Cdon T C 9: 35,364,200 (GRCm39) V106A possibly damaging Het
Cebpa G T 7: 34,819,246 (GRCm39) G135C probably damaging Het
Cfap65 A G 1: 74,958,420 (GRCm39) S896P probably benign Het
Ciz1 T C 2: 32,254,247 (GRCm39) S63P probably damaging Het
Clybl G A 14: 122,621,618 (GRCm39) V269M probably damaging Het
Ctnnb1 G T 9: 120,782,060 (GRCm39) V358L possibly damaging Het
Cwh43 G T 5: 73,586,016 (GRCm39) probably null Het
Cyp2d10 G A 15: 82,287,967 (GRCm39) R379C probably benign Het
Dab2ip C A 2: 35,610,049 (GRCm39) R727S probably damaging Het
Dmrt1 T A 19: 25,483,219 (GRCm39) M1K probably null Het
Dock1 A T 7: 134,335,800 (GRCm39) I65F probably damaging Het
Ercc2 T C 7: 19,120,732 (GRCm39) V155A probably damaging Het
Exph5 A C 9: 53,287,539 (GRCm39) D1540A possibly damaging Het
Fat3 T A 9: 16,288,773 (GRCm39) H250L probably damaging Het
Fbxw10 C A 11: 62,753,557 (GRCm39) A517E probably damaging Het
Furin A T 7: 80,046,727 (GRCm39) N176K probably damaging Het
Gabrb3 A G 7: 57,442,207 (GRCm39) probably benign Het
Gas6 G T 8: 13,525,086 (GRCm39) S299R possibly damaging Het
Gga3 G T 11: 115,477,111 (GRCm39) probably benign Het
Gle1 A G 2: 29,826,032 (GRCm39) E37G possibly damaging Het
Gm7964 A G 7: 83,405,350 (GRCm39) D80G possibly damaging Het
Gne C T 4: 44,055,204 (GRCm39) probably null Het
Grid2 G T 6: 64,406,724 (GRCm39) G695W probably damaging Het
H2-M10.6 A T 17: 37,123,425 (GRCm39) M40L probably benign Het
Hectd4 G T 5: 121,460,735 (GRCm39) V905L possibly damaging Het
Isyna1 C A 8: 71,049,412 (GRCm39) S441R possibly damaging Het
Kcnh3 C T 15: 99,139,913 (GRCm39) S933L probably benign Het
Knl1 T C 2: 118,902,832 (GRCm39) I1511T possibly damaging Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Lipo4 C T 19: 33,478,953 (GRCm39) probably null Het
Llgl1 T A 11: 60,598,036 (GRCm39) L360* probably null Het
Map2k5 G A 9: 63,229,525 (GRCm39) R169* probably null Het
Muc19 A T 15: 91,781,910 (GRCm39) noncoding transcript Het
Muc4 G A 16: 32,754,836 (GRCm38) probably benign Het
Myh4 A G 11: 67,143,490 (GRCm39) E1074G probably damaging Het
Naip5 C T 13: 100,381,639 (GRCm39) G210E probably damaging Het
Nalcn A G 14: 123,837,296 (GRCm39) S23P probably benign Het
Nepro T A 16: 44,550,536 (GRCm39) M176K probably damaging Het
Nlrp6 G A 7: 140,504,006 (GRCm39) C704Y probably damaging Het
Notch1 A G 2: 26,361,191 (GRCm39) S1100P probably benign Het
Nrxn3 A G 12: 88,762,352 (GRCm39) E133G possibly damaging Het
Obi1 A G 14: 104,716,252 (GRCm39) I707T probably damaging Het
Parp9 T C 16: 35,777,274 (GRCm39) L406S probably damaging Het
Peak1 G T 9: 56,134,876 (GRCm39) A155D probably benign Het
Piezo1 G A 8: 123,214,284 (GRCm39) H1628Y probably benign Het
Piwil2 A G 14: 70,632,811 (GRCm39) V587A probably benign Het
Pkn2 A G 3: 142,509,379 (GRCm39) Y722H probably damaging Het
Plch2 A T 4: 155,073,885 (GRCm39) I834K probably benign Het
Pld1 A G 3: 28,163,951 (GRCm39) T795A possibly damaging Het
Plekhh1 A G 12: 79,097,160 (GRCm39) S103G probably benign Het
Ppl T C 16: 4,922,753 (GRCm39) Y246C probably damaging Het
Prpf40b G A 15: 99,207,726 (GRCm39) probably benign Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp3 T A 4: 59,524,443 (GRCm39) I28F possibly damaging Het
Ptrh2 A T 11: 86,580,631 (GRCm39) K83* probably null Het
Rai1 T C 11: 60,077,588 (GRCm39) S551P probably damaging Het
Rapgefl1 A T 11: 98,741,935 (GRCm39) Q633L probably damaging Het
Rb1cc1 T C 1: 6,285,245 (GRCm39) probably benign Het
Rif1 T A 2: 51,983,623 (GRCm39) probably benign Het
Rnf141 A G 7: 110,424,557 (GRCm39) Y101H probably damaging Het
Rttn T A 18: 89,061,138 (GRCm39) L1102* probably null Het
Sall4 G A 2: 168,597,637 (GRCm39) S401F probably damaging Het
Saxo5 G A 8: 3,537,148 (GRCm39) S498N probably damaging Het
Sec11c T C 18: 65,934,541 (GRCm39) I36T probably benign Het
Sel1l A G 12: 91,780,828 (GRCm39) probably benign Het
Setd1a T C 7: 127,396,776 (GRCm39) probably benign Het
Sez6l2 C T 7: 126,561,014 (GRCm39) P433L probably benign Het
Sgf29 T C 7: 126,248,547 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,253,520 (GRCm39) V305A probably benign Het
Slco1a8 T C 6: 141,933,492 (GRCm39) D431G probably damaging Het
Sun2 T C 15: 79,612,587 (GRCm39) probably benign Het
Tecta T C 9: 42,286,830 (GRCm39) S609G probably benign Het
Tmprss6 T A 15: 78,327,880 (GRCm39) probably null Het
Tns1 T C 1: 73,991,774 (GRCm39) H968R probably benign Het
Tomm34 G A 2: 163,896,637 (GRCm39) A270V probably damaging Het
Tpo T C 12: 30,153,364 (GRCm39) K330R probably benign Het
Ttn T A 2: 76,542,837 (GRCm39) Y33383F probably damaging Het
Unc13c G T 9: 73,587,716 (GRCm39) A1439D probably benign Het
Vcp C T 4: 42,993,691 (GRCm39) R147H probably benign Het
Vps13d A G 4: 144,854,612 (GRCm39) L2272P probably damaging Het
Wdfy3 A G 5: 102,042,787 (GRCm39) L1988P probably damaging Het
Wwc2 A G 8: 48,373,713 (GRCm39) F51S probably damaging Het
Zfp454 C T 11: 50,763,980 (GRCm39) C373Y probably damaging Het
Zfp853 A T 5: 143,274,048 (GRCm39) V473E probably damaging Het
Zfp959 A T 17: 56,204,228 (GRCm39) R85S 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
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
R8250:Gabrg2 UTSW 11 41,858,379 (GRCm39) missense probably benign 0.00
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'- GTGGTAAGCTCTCATGAATATGC -3'
(R):5'- CTGTGTCCATAGCTCAGTCC -3'

Sequencing Primer
(F):5'- GGTAAGCTCTCATGAATATGCATGTG -3'
(R):5'- AGTCCTTCTCTTTCAGGTGACTATG -3'
Posted On 2016-03-17