Incidental Mutation 'R7011:Gabrb2'
ID 545033
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 045112-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R7011 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 42310584-42519855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42517488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 399 (S399P)
Ref Sequence ENSEMBL: ENSMUSP00000007797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007797] [ENSMUST00000192403]
AlphaFold P63137
Predicted Effect possibly damaging
Transcript: ENSMUST00000007797
AA Change: S399P

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000007797
Gene: ENSMUSG00000007653
AA Change: S399P

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 possibly damaging
Transcript: ENSMUST00000192403
AA Change: S437P

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141868
Gene: ENSMUSG00000007653
AA Change: S437P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (66/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,033,845 (GRCm39) P886S probably benign Het
Anapc1 C T 2: 128,490,601 (GRCm39) probably null Het
Ankrd34c C A 9: 89,611,001 (GRCm39) G447* probably null Het
Apbb1ip A T 2: 22,725,943 (GRCm39) E238D probably damaging Het
Arfgap1 T C 2: 180,613,935 (GRCm39) L110P probably damaging Het
Arhgap21 G A 2: 20,853,689 (GRCm39) T1901I possibly damaging Het
Brpf1 C A 6: 113,295,427 (GRCm39) Q679K probably benign Het
Btnl2 A G 17: 34,582,487 (GRCm39) E351G probably damaging Het
Cd209f T A 8: 4,154,859 (GRCm39) T80S probably benign Het
Cdc16 A G 8: 13,819,451 (GRCm39) E349G probably damaging Het
Cfap53 A T 18: 74,462,564 (GRCm39) D436V probably benign Het
Crhr2 A T 6: 55,076,195 (GRCm39) probably null Het
Cux1 T C 5: 136,388,887 (GRCm39) K226E probably damaging Het
Ddr2 A T 1: 169,809,672 (GRCm39) D768E probably damaging Het
Dhx8 T C 11: 101,632,346 (GRCm39) L435P probably damaging Het
Dnah11 AGGCC AGGCCGGCC 12: 117,885,753 (GRCm39) probably null Het
Eif4ebp1 G A 8: 27,763,372 (GRCm39) R55Q probably damaging Het
Fbh1 T A 2: 11,767,774 (GRCm39) D358V probably damaging Het
Fra10ac1 T A 19: 38,177,242 (GRCm39) E304D probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprin2 G T 14: 33,917,393 (GRCm39) H126N probably null Het
Gucy1a1 A G 3: 82,016,422 (GRCm39) S189P probably damaging Het
Htr1d T C 4: 136,170,317 (GRCm39) M182T probably benign Het
Lipc A G 9: 70,726,236 (GRCm39) F73L probably benign Het
Liph A G 16: 21,802,847 (GRCm39) I74T probably damaging Het
Lrif1 T G 3: 106,639,601 (GRCm39) Y229D probably damaging Het
Magel2 C T 7: 62,028,281 (GRCm39) T395I possibly damaging Het
Magi3 T C 3: 104,013,070 (GRCm39) N139S probably damaging Het
Man2c1 T A 9: 57,045,117 (GRCm39) V336E probably damaging Het
Mapk12 A T 15: 89,019,803 (GRCm39) Y135N probably damaging Het
Mapkapk3 C T 9: 107,166,595 (GRCm39) probably benign Het
Mast1 A T 8: 85,638,574 (GRCm39) Y653* probably null Het
Muc16 T A 9: 18,548,747 (GRCm39) I5849F probably benign Het
Muc16 T A 9: 18,548,839 (GRCm39) H5818L probably benign Het
Ndufa10 A G 1: 92,398,581 (GRCm39) S68P probably damaging Het
Nedd1 C A 10: 92,526,635 (GRCm39) L503F probably benign Het
Nr1i3 A G 1: 171,041,927 (GRCm39) M4V probably benign Het
Or12e9 G A 2: 87,202,604 (GRCm39) A243T possibly damaging Het
Or2av9 T A 11: 58,380,970 (GRCm39) I204F possibly damaging Het
Or4f14b A T 2: 111,775,031 (GRCm39) F257I probably benign Het
Or9i2 T C 19: 13,816,403 (GRCm39) I45V probably benign Het
Pcdh18 A T 3: 49,709,231 (GRCm39) S695T probably benign Het
Pcdha1 T C 18: 37,063,588 (GRCm39) I84T probably damaging Het
Plek T A 11: 16,944,760 (GRCm39) D90V possibly damaging Het
Ppp6r1 A G 7: 4,649,825 (GRCm39) C47R probably damaging Het
Psg27 G C 7: 18,290,798 (GRCm39) N468K probably benign Het
Ptchd4 G A 17: 42,814,759 (GRCm39) E887K probably benign Het
Rabgap1 C T 2: 37,430,492 (GRCm39) L678F probably damaging Het
Rmdn3 T C 2: 118,968,904 (GRCm39) Y429C probably damaging Het
Ros1 A T 10: 52,056,272 (GRCm39) C73S probably damaging Het
Rtkn2 G A 10: 67,815,495 (GRCm39) probably benign Het
Slc25a42 A G 8: 70,639,352 (GRCm39) S242P probably damaging Het
Smtnl1 T A 2: 84,648,753 (GRCm39) D167V probably benign Het
Smurf2 A G 11: 106,724,610 (GRCm39) L511P probably benign Het
Stbd1 A T 5: 92,752,977 (GRCm39) K156* probably null Het
Tenm4 G T 7: 96,545,342 (GRCm39) G2453* probably null Het
Tent4a C T 13: 69,648,199 (GRCm39) G489S probably damaging Het
Tpr A G 1: 150,309,523 (GRCm39) K1760E probably damaging Het
Triobp T A 15: 78,862,923 (GRCm39) L1427Q probably damaging Het
Uaca A G 9: 60,777,650 (GRCm39) E679G probably damaging Het
Ucn3 T G 13: 3,991,421 (GRCm39) H77P possibly damaging Het
Wnk2 T A 13: 49,224,567 (GRCm39) D998V probably damaging Het
Xrcc3 A G 12: 111,770,969 (GRCm39) V320A probably damaging Het
Zdbf2 A G 1: 63,345,925 (GRCm39) T1435A possibly damaging Het
Zfp36l2 G T 17: 84,493,861 (GRCm39) H259N possibly damaging Het
Zfp619 A T 7: 39,187,186 (GRCm39) H1072L probably damaging Het
Zfy2 T A Y: 2,107,127 (GRCm39) E502D possibly damaging Het
Zfyve16 G A 13: 92,658,495 (GRCm39) P472L probably benign 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
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'- GCAACGGCTTATGGTTTCAG -3'
(R):5'- CTTCTCACGGAAGGCTGTAG -3'

Sequencing Primer
(F):5'- CAACGGCTTATGGTTTCAGATGTACC -3'
(R):5'- CACGGAAGGCTGTAGTTTAGTTCAC -3'
Posted On 2019-05-13