Incidental Mutation 'R9746:Gabrb2'
ID 732140
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R9746 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 42310584-42519855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42517436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 419 (E419D)
Ref Sequence ENSEMBL: ENSMUSP00000141868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007797] [ENSMUST00000192403]
AlphaFold P63137
Predicted Effect probably benign
Transcript: ENSMUST00000007797
AA Change: E381D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: E381D

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 probably benign
Transcript: ENSMUST00000192403
AA Change: E419D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: E419D

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,159,598 (GRCm39) H307L probably benign Het
Acnat1 A T 4: 49,450,652 (GRCm39) L153H probably damaging Het
Actn4 A T 7: 28,618,431 (GRCm39) D76E probably benign Het
Afdn A C 17: 14,066,782 (GRCm39) M640L probably benign Het
Angpt1 A T 15: 42,539,837 (GRCm39) F7L probably benign Het
Ap3b2 A G 7: 81,126,092 (GRCm39) F373S probably damaging Het
Armc2 T A 10: 41,800,457 (GRCm39) Y650F probably damaging Het
Atg2b G T 12: 105,630,197 (GRCm39) T398K possibly damaging Het
Baz1a CCATT CCATTCATT 12: 55,021,895 (GRCm39) probably null Het
Capn8 G A 1: 182,438,670 (GRCm39) probably null Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cfap54 T C 10: 92,637,081 (GRCm39) N3103D probably benign Het
Chd9 G A 8: 91,738,063 (GRCm39) R1565Q unknown Het
Cir1 G A 2: 73,134,152 (GRCm39) T139I probably damaging Het
Cmah T C 13: 24,619,673 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,800 (GRCm39) D2G probably damaging Het
Dennd4a A T 9: 64,801,793 (GRCm39) T979S probably benign Het
Dnah11 T A 12: 117,842,311 (GRCm39) K4423* probably null Het
Dnajb4 A G 3: 151,892,320 (GRCm39) I171T possibly damaging Het
Dpm1 A T 2: 168,072,307 (GRCm39) probably null Het
Dtwd1 A G 2: 125,996,595 (GRCm39) T27A probably benign Het
Ep400 C T 5: 110,889,872 (GRCm39) D464N unknown Het
Epb42 A T 2: 120,855,091 (GRCm39) I498N probably benign Het
Fhod1 A G 8: 106,064,048 (GRCm39) V219A unknown Het
Galnt18 A T 7: 111,071,168 (GRCm39) N615K possibly damaging Het
Gm29106 T A 1: 118,127,254 (GRCm39) H315Q possibly damaging Het
Gprin2 G T 14: 33,917,615 (GRCm39) Q52K probably benign Het
Grm4 A T 17: 27,657,765 (GRCm39) Y414N probably damaging Het
Gulo C A 14: 66,225,630 (GRCm39) probably null Het
H2-M1 A C 17: 36,980,997 (GRCm39) V313G possibly damaging Het
Hectd3 T C 4: 116,852,951 (GRCm39) W118R probably damaging Het
Hs6st3 G A 14: 120,106,492 (GRCm39) C300Y probably damaging Het
Il1rl2 T A 1: 40,404,519 (GRCm39) S547T possibly damaging Het
Kank1 G T 19: 25,386,872 (GRCm39) V182F probably damaging Het
Kif20b T A 19: 34,928,149 (GRCm39) L1137* probably null Het
Klhl7 A G 5: 24,331,818 (GRCm39) probably null Het
Krt13 T A 11: 100,011,987 (GRCm39) D112V possibly damaging Het
Ltbr A G 6: 125,290,064 (GRCm39) V71A probably benign Het
Ly6g T C 15: 75,030,458 (GRCm39) V92A probably benign Het
Map2k3 G A 11: 60,822,929 (GRCm39) probably benign Het
Mast2 A C 4: 116,168,927 (GRCm39) D842E probably benign Het
Mpo T G 11: 87,694,349 (GRCm39) M693R probably benign Het
Myo15a C A 11: 60,378,234 (GRCm39) S212* probably null Het
Nadk2 C T 15: 9,106,824 (GRCm39) R37* probably null Het
Ncapd3 G A 9: 26,974,655 (GRCm39) R709H probably benign Het
Nck2 T A 1: 43,572,892 (GRCm39) Y55* probably null Het
Neurl4 A G 11: 69,798,301 (GRCm39) D777G probably damaging Het
Npr2 G A 4: 43,633,527 (GRCm39) V224M possibly damaging Het
Nptx2 T A 5: 144,484,950 (GRCm39) S148T probably benign Het
Nr1d1 T C 11: 98,661,160 (GRCm39) T369A probably benign Het
Nub1 T G 5: 24,908,483 (GRCm39) F411V probably damaging Het
Nup188 T A 2: 30,194,300 (GRCm39) Y158N probably damaging Het
Or2d36 A T 7: 106,746,660 (GRCm39) I46F probably benign Het
Or5e1 A G 7: 108,354,639 (GRCm39) N192S probably benign Het
Or5m8 A G 2: 85,823,091 (GRCm39) Y310C probably benign Het
Or6c6c A T 10: 129,541,208 (GRCm39) I154F probably damaging Het
Or8c19-ps1 T A 9: 38,220,928 (GRCm39) I279K unknown Het
Orc2 C T 1: 58,536,610 (GRCm39) G85S probably damaging Het
Pak1ip1 T A 13: 41,162,743 (GRCm39) V182D probably damaging Het
Parvg T G 15: 84,210,424 (GRCm39) C30W probably benign Het
Pcdha1 T A 18: 37,065,713 (GRCm39) D792E probably benign Het
Ppp1r13b G T 12: 111,800,242 (GRCm39) Q635K probably benign Het
Pramel26 T C 4: 143,536,886 (GRCm39) T482A probably benign Het
Psg16 A G 7: 16,832,086 (GRCm39) I341V probably benign Het
Psme4 C T 11: 30,826,868 (GRCm39) Q1796* probably null Het
Ptn T G 6: 36,692,699 (GRCm39) probably null Het
Rapsn C T 2: 90,875,823 (GRCm39) P400L probably damaging Het
Rasal1 G A 5: 120,800,358 (GRCm39) G207D probably damaging Het
Rdx A G 9: 51,974,878 (GRCm39) I5V probably benign Het
Rpf1 A G 3: 146,223,533 (GRCm39) I105T probably damaging Het
Rps15a A T 7: 117,709,220 (GRCm39) F79I possibly damaging Het
Rwdd2b G A 16: 87,233,641 (GRCm39) P153L probably benign Het
Scaf11 G A 15: 96,318,298 (GRCm39) S422L probably damaging Het
Serpinb3b T A 1: 107,082,403 (GRCm39) E287V possibly damaging Het
Sgta T C 10: 80,887,118 (GRCm39) D49G possibly damaging Het
Sin3a T A 9: 57,025,358 (GRCm39) M1068K probably benign Het
Slc12a9 G A 5: 137,319,671 (GRCm39) R615W probably damaging Het
Slc26a3 T A 12: 31,499,145 (GRCm39) S151T probably benign Het
Slc4a8 C A 15: 100,681,721 (GRCm39) H111N probably damaging Het
Syngr1 G A 15: 79,975,659 (GRCm39) R22K probably benign Het
Tars2 A T 3: 95,662,077 (GRCm39) V25E probably benign Het
Tbx15 A G 3: 99,259,647 (GRCm39) Y506C probably damaging Het
Tgm4 A T 9: 122,875,634 (GRCm39) K162N possibly damaging Het
Tmem253 A G 14: 52,255,439 (GRCm39) E83G probably damaging Het
Trp73 G A 4: 154,165,859 (GRCm39) T118I probably damaging Het
Trpm7 A G 2: 126,664,578 (GRCm39) S934P possibly damaging Het
Ttc23l G A 15: 10,523,729 (GRCm39) S330L probably benign Het
Tub A C 7: 108,624,845 (GRCm39) D199A probably benign Het
Uri1 A C 7: 37,696,110 (GRCm39) probably null Het
Usp16 C T 16: 87,276,120 (GRCm39) A486V probably benign Het
Vmn1r12 A G 6: 57,136,526 (GRCm39) I208V probably benign Het
Vmn2r116 A T 17: 23,620,797 (GRCm39) M844L probably benign Het
Vmn2r13 C T 5: 109,339,773 (GRCm39) probably null Het
Xpnpep1 T C 19: 53,001,892 (GRCm39) D118G probably damaging Het
Zfp111 G A 7: 23,898,067 (GRCm39) P516S 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
R4168: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
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'- CTGCAGTAGGAAAGCTAGCTC -3'
(R):5'- ATTCACATCAGTCAAGTCGGGG -3'

Sequencing Primer
(F):5'- CAGTAGGAAAGCTAGCTCTCTTTGTC -3'
(R):5'- ATCAGTCAAGTCGGGGATGGTG -3'
Posted On 2022-11-14