Incidental Mutation 'R4013:Gabrg2'
ID 311825
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 040950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R4013 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 41801030-41891684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41862707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 126 (K126E)
Ref Sequence ENSEMBL: ENSMUSP00000104913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070725] [ENSMUST00000070735] [ENSMUST00000109290]
AlphaFold P22723
Predicted Effect probably benign
Transcript: ENSMUST00000070725
AA Change: K126E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: K126E

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: K126E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: K126E

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 possibly damaging
Transcript: ENSMUST00000109290
AA Change: K126E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: K126E

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: ENSMUST00000139508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155032
Meta Mutation Damage Score 0.2159 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
Validation Efficiency 98% (47/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,668,104 (GRCm39) Q168R probably benign Het
Adgrg3 A G 8: 95,761,727 (GRCm39) probably benign Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Atp6v0a2 G A 5: 124,789,860 (GRCm39) V429M probably damaging Het
Cbln4 A T 2: 171,879,477 (GRCm39) M137K probably damaging Het
Cfap57 A G 4: 118,450,340 (GRCm39) V594A probably benign Het
Chd9 A G 8: 91,699,797 (GRCm39) E28G possibly damaging Het
Clip4 T A 17: 72,163,541 (GRCm39) C704* probably null Het
Col8a2 T A 4: 126,204,908 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,016,193 (GRCm39) T17A probably benign Het
Cyp4f14 G A 17: 33,135,853 (GRCm39) Q3* probably null Het
Cysltr2 A G 14: 73,267,005 (GRCm39) I235T probably damaging Het
Esp34 C A 17: 38,870,446 (GRCm39) C45* probably null Het
Gm4846 A C 1: 166,322,249 (GRCm39) probably null Het
Igsf21 T C 4: 139,764,780 (GRCm39) N165S possibly damaging Het
Kcnf1 A G 12: 17,225,994 (GRCm39) F76L probably benign Het
Kcns1 A G 2: 164,010,177 (GRCm39) V194A probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Kdm5b A G 1: 134,555,067 (GRCm39) Y1325C possibly damaging Het
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrrc63 A G 14: 75,335,731 (GRCm39) Y460H probably damaging Het
Myo15b G T 11: 115,762,282 (GRCm39) E1201* probably null Het
Ndor1 A T 2: 25,140,162 (GRCm39) I84K probably damaging Het
Ndst4 T A 3: 125,476,819 (GRCm39) Y15N probably damaging Het
Or51af1 T C 7: 103,141,840 (GRCm39) T82A probably benign Het
Or5ar1 A G 2: 85,671,725 (GRCm39) S137P probably damaging Het
Pik3r6 T A 11: 68,424,347 (GRCm39) D317E possibly damaging Het
Ppp2r1a G A 17: 21,171,609 (GRCm39) R28H probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpn12 G A 5: 21,197,741 (GRCm39) P700L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc39a13 T C 2: 90,895,247 (GRCm39) probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Taok1 A T 11: 77,450,659 (GRCm39) L371H possibly damaging Het
Tas2r116 A G 6: 132,833,230 (GRCm39) H277R probably damaging Het
Treml4 G A 17: 48,571,837 (GRCm39) R80Q probably benign Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Vmn2r52 G A 7: 9,904,603 (GRCm39) T412I probably benign Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Wdr93 T A 7: 79,418,159 (GRCm39) V294E 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
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
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'- TCCTGAAAGCATAGGGTTGATTTTG -3'
(R):5'- ACCAGCAAAGCTATTGTCTGC -3'

Sequencing Primer
(F):5'- CCCCTCAAGAAGTACCTTAAGG -3'
(R):5'- CCAGCAAAGCTATTGTCTGCTGATG -3'
Posted On 2015-04-29