Incidental Mutation 'R4168:Gabrb2'
ID 320665
Institutional Source Beutler Lab
Gene Symbol Gabrb2
Ensembl Gene ENSMUSG00000007653
Gene Name gamma-aminobutyric acid type A receptor subunit beta 2
Synonyms C030021G16Rik, Gabrb-2, C030002O17Rik
MMRRC Submission 041009-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R4168 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 42310584-42519855 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 42312155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007797] [ENSMUST00000192403]
AlphaFold P63137
Predicted Effect probably benign
Transcript: ENSMUST00000007797
SMART Domains Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Neur_chan_LBD 36 242 8.7e-52 PFAM
Pfam:Neur_chan_memb 249 469 7.5e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143626
Predicted Effect probably benign
Transcript: ENSMUST00000192403
SMART Domains Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Neur_chan_LBD 36 242 1.1e-54 PFAM
Pfam:Neur_chan_memb 249 507 6.6e-55 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show hyperactivity and abnormal GABA-mediated receptor currents. Homozygotes for a derivative of this allele show a sexually dimorphic cochlear phenotype associated with OHC dysfunction. Homozygotes for a knock-in allele show altered behavioral response to etomidate. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(1)

Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 A T 17: 57,525,608 (GRCm39) F883I probably benign Het
Cbr4 T A 8: 61,944,555 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Chpf2 T C 5: 24,796,788 (GRCm39) V578A possibly damaging Het
Clasrp A G 7: 19,315,079 (GRCm39) probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Ctif A C 18: 75,770,286 (GRCm39) L33R probably damaging Het
Dmap1 T A 4: 117,538,507 (GRCm39) H54L possibly damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fcgbpl1 T C 7: 27,836,534 (GRCm39) L151P probably benign Het
Flt4 G A 11: 49,521,400 (GRCm39) R440H probably benign Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Haspin A G 11: 73,026,848 (GRCm39) L747P probably damaging Het
Intu C T 3: 40,627,053 (GRCm39) P278L probably benign Het
Kif27 A G 13: 58,493,562 (GRCm39) I127T probably benign Het
Mogat1 T C 1: 78,488,672 (GRCm39) V25A possibly damaging Het
Nop14 A G 5: 34,814,088 (GRCm39) S157P probably damaging Het
Or5al6 A G 2: 85,976,523 (GRCm39) I185T probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5k3 A T 16: 58,969,363 (GRCm39) Y50F probably benign Het
Oxct2b T C 4: 123,011,478 (GRCm39) L466P probably damaging Het
Padi6 A G 4: 140,469,245 (GRCm39) C32R probably damaging Het
Pla2r1 A T 2: 60,327,958 (GRCm39) Y501* probably null Het
Rb1cc1 G A 1: 6,300,248 (GRCm39) V8I probably damaging Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,684,673 (GRCm39) I261V probably benign Het
Tmem119 T C 5: 113,933,048 (GRCm39) E251G probably benign Het
Vmn2r112 T A 17: 22,822,069 (GRCm39) M249K probably benign Het
Zc2hc1a A G 3: 7,583,451 (GRCm39) T41A probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Znrf2 T C 6: 54,840,945 (GRCm39) V173A possibly damaging Het
Other mutations in Gabrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02275:Gabrb2 APN 11 42,482,721 (GRCm39) missense probably benign 0.00
IGL02666:Gabrb2 APN 11 42,420,322 (GRCm39) critical splice donor site probably null
IGL02983:Gabrb2 APN 11 42,312,227 (GRCm39) missense probably benign 0.00
IGL03357:Gabrb2 APN 11 42,482,771 (GRCm39) missense probably damaging 1.00
H2330:Gabrb2 UTSW 11 42,312,258 (GRCm39) splice site probably benign
R0049:Gabrb2 UTSW 11 42,484,674 (GRCm39) missense probably damaging 1.00
R0049:Gabrb2 UTSW 11 42,484,674 (GRCm39) missense probably damaging 1.00
R0100:Gabrb2 UTSW 11 42,378,141 (GRCm39) missense probably damaging 1.00
R1423:Gabrb2 UTSW 11 42,420,298 (GRCm39) missense probably damaging 1.00
R1526:Gabrb2 UTSW 11 42,482,715 (GRCm39) missense possibly damaging 0.83
R1856:Gabrb2 UTSW 11 42,517,540 (GRCm39) missense probably benign 0.01
R1898:Gabrb2 UTSW 11 42,484,659 (GRCm39) missense possibly damaging 0.51
R2184:Gabrb2 UTSW 11 42,312,255 (GRCm39) critical splice donor site probably null
R2371:Gabrb2 UTSW 11 42,482,691 (GRCm39) missense probably damaging 1.00
R2915:Gabrb2 UTSW 11 42,482,734 (GRCm39) missense probably benign
R2993:Gabrb2 UTSW 11 42,488,476 (GRCm39) missense probably damaging 0.99
R3951:Gabrb2 UTSW 11 42,517,708 (GRCm39) missense probably damaging 1.00
R4167:Gabrb2 UTSW 11 42,312,155 (GRCm39) unclassified probably benign
R4497:Gabrb2 UTSW 11 42,488,521 (GRCm39) missense probably benign 0.05
R4572:Gabrb2 UTSW 11 42,484,744 (GRCm39) missense possibly damaging 0.46
R4784:Gabrb2 UTSW 11 42,488,469 (GRCm39) missense probably damaging 1.00
R4792:Gabrb2 UTSW 11 42,420,330 (GRCm39) splice site probably benign
R5345:Gabrb2 UTSW 11 42,517,636 (GRCm39) missense possibly damaging 0.54
R5346:Gabrb2 UTSW 11 42,312,216 (GRCm39) missense probably benign
R5575:Gabrb2 UTSW 11 42,420,365 (GRCm39) intron probably benign
R5701:Gabrb2 UTSW 11 42,378,201 (GRCm39) missense probably damaging 1.00
R5801:Gabrb2 UTSW 11 42,312,216 (GRCm39) missense probably benign 0.00
R5965:Gabrb2 UTSW 11 42,517,696 (GRCm39) missense probably damaging 1.00
R6738:Gabrb2 UTSW 11 42,484,758 (GRCm39) missense possibly damaging 0.95
R6930:Gabrb2 UTSW 11 42,488,440 (GRCm39) missense probably damaging 1.00
R7011:Gabrb2 UTSW 11 42,517,488 (GRCm39) missense possibly damaging 0.76
R7045:Gabrb2 UTSW 11 42,484,758 (GRCm39) missense probably damaging 1.00
R7615:Gabrb2 UTSW 11 42,517,569 (GRCm39) missense probably benign 0.06
R7653:Gabrb2 UTSW 11 42,378,039 (GRCm39) missense probably damaging 1.00
R7866:Gabrb2 UTSW 11 42,378,050 (GRCm39) nonsense probably null
R8094:Gabrb2 UTSW 11 42,488,370 (GRCm39) missense probably damaging 0.98
R8402:Gabrb2 UTSW 11 42,378,131 (GRCm39) missense probably damaging 1.00
R8488:Gabrb2 UTSW 11 42,517,491 (GRCm39) missense possibly damaging 0.85
R8851:Gabrb2 UTSW 11 42,312,186 (GRCm39) missense probably benign
R9123:Gabrb2 UTSW 11 42,482,693 (GRCm39) missense probably damaging 0.97
R9125:Gabrb2 UTSW 11 42,482,693 (GRCm39) missense probably damaging 0.97
R9186:Gabrb2 UTSW 11 42,378,200 (GRCm39) missense possibly damaging 0.51
R9672:Gabrb2 UTSW 11 42,312,207 (GRCm39) missense probably benign 0.00
R9746:Gabrb2 UTSW 11 42,517,436 (GRCm39) missense probably benign 0.00
RF008:Gabrb2 UTSW 11 42,517,705 (GRCm39) missense probably damaging 1.00
X0020:Gabrb2 UTSW 11 42,313,473 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- ACTCTGGATGCATTTCTGGG -3'
(R):5'- TTCAACAGCCCTGCTCACAG -3'

Sequencing Primer
(F):5'- CTCTGGATGCATTTCTGGGGTAGTAG -3'
(R):5'- TGCTCACAGAGAGGTATGCAGAC -3'
Posted On 2015-06-12