Incidental Mutation 'IGL01534:Gabrb1'
ID 89871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrb1
Ensembl Gene ENSMUSG00000029212
Gene Name gamma-aminobutyric acid type A receptor subunit beta 1
Synonyms Gabrb-1, B230208N19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01534
Quality Score
Status
Chromosome 5
Chromosomal Location 71815456-72306380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72026772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 91 (S91T)
Ref Sequence ENSEMBL: ENSMUSP00000031122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031122] [ENSMUST00000199967]
AlphaFold P50571
Predicted Effect possibly damaging
Transcript: ENSMUST00000031122
AA Change: S91T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: S91T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Neur_chan_LBD 37 243 7.1e-52 PFAM
Pfam:Neur_chan_memb 250 469 2.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199967
AA Change: S58T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212
AA Change: S58T

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 4 210 4.8e-51 PFAM
Coding Region Coverage
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 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,197,146 (GRCm39) L111P possibly damaging Het
Adck5 C A 15: 76,478,926 (GRCm39) H383Q probably damaging Het
Arb2a T A 13: 78,147,830 (GRCm39) probably benign Het
Asns T A 6: 7,675,397 (GRCm39) H535L probably benign Het
Atf5 A G 7: 44,462,462 (GRCm39) S221P probably damaging Het
Atr T C 9: 95,747,599 (GRCm39) Y294H probably damaging Het
B230307C23Rik A G 16: 97,809,961 (GRCm39) probably benign Het
C1qtnf6 C T 15: 78,409,416 (GRCm39) E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 (GRCm39) probably benign Het
Cd48 C A 1: 171,523,307 (GRCm39) P50Q possibly damaging Het
Cnnm4 T C 1: 36,538,596 (GRCm39) Y593H probably benign Het
Col27a1 G A 4: 63,144,019 (GRCm39) R569Q probably benign Het
Cubn A T 2: 13,470,744 (GRCm39) C549* probably null Het
Dsg1a T A 18: 20,474,053 (GRCm39) M1042K probably benign Het
Dzip1 T A 14: 119,114,651 (GRCm39) T835S probably damaging Het
Eif3c T C 7: 126,156,867 (GRCm39) T389A probably benign Het
Erlin2 G T 8: 27,521,985 (GRCm39) E177* probably null Het
Grik3 T C 4: 125,579,983 (GRCm39) V576A probably damaging Het
Gtpbp2 T A 17: 46,474,430 (GRCm39) Y70N probably damaging Het
Idh3a T A 9: 54,508,506 (GRCm39) probably benign Het
Ift74 G A 4: 94,568,181 (GRCm39) R406H probably benign Het
Kcna7 C A 7: 45,055,935 (GRCm39) N50K probably damaging Het
Kcnd2 T C 6: 21,726,144 (GRCm39) S546P probably benign Het
Lrp4 G A 2: 91,303,986 (GRCm39) D134N probably damaging Het
Mcm2 A G 6: 88,864,700 (GRCm39) probably null Het
Nlrp12 T C 7: 3,288,463 (GRCm39) Y683C probably benign Het
Or14j3 A T 17: 37,900,963 (GRCm39) Y94N possibly damaging Het
Or2d4 T A 7: 106,543,546 (GRCm39) I221F probably damaging Het
Or8i2 A G 2: 86,852,228 (GRCm39) I220T probably damaging Het
Or9i1 A T 19: 13,839,283 (GRCm39) N42I probably damaging Het
Or9i14 T A 19: 13,792,666 (GRCm39) H96L probably benign Het
P2rx7 A C 5: 122,814,761 (GRCm39) I409L probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Rabggtb A G 3: 153,615,896 (GRCm39) probably null Het
Rgs4 A T 1: 169,572,085 (GRCm39) C71* probably null Het
Rnase10 T C 14: 51,245,436 (GRCm39) F5L probably benign Het
Scn11a T A 9: 119,609,888 (GRCm39) T987S probably benign Het
Shox2 A C 3: 66,885,696 (GRCm39) D126E probably benign Het
Slc12a1 A G 2: 125,059,830 (GRCm39) D910G probably damaging Het
Slc15a1 C T 14: 121,702,364 (GRCm39) C594Y possibly damaging Het
Spock2 C T 10: 59,962,883 (GRCm39) probably benign Het
Togaram1 G T 12: 65,013,321 (GRCm39) D191Y probably damaging Het
Triml2 T C 8: 43,640,660 (GRCm39) V172A probably benign Het
Tubb3 C T 8: 124,147,705 (GRCm39) R213C probably benign Het
Vmn2r4 A T 3: 64,313,844 (GRCm39) V379E probably damaging Het
Zfp446 C T 7: 12,713,493 (GRCm39) P153L probably damaging Het
Zfp608 A T 18: 55,032,004 (GRCm39) N645K probably damaging Het
Other mutations in Gabrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Gabrb1 APN 5 72,265,789 (GRCm39) critical splice donor site probably null
IGL00774:Gabrb1 APN 5 72,265,789 (GRCm39) critical splice donor site probably null
IGL02170:Gabrb1 APN 5 72,294,073 (GRCm39) missense probably damaging 1.00
IGL02326:Gabrb1 APN 5 71,858,190 (GRCm39) missense probably damaging 0.99
IGL03278:Gabrb1 APN 5 72,026,939 (GRCm39) missense probably damaging 1.00
IGL03345:Gabrb1 APN 5 72,293,908 (GRCm39) missense possibly damaging 0.53
IGL03050:Gabrb1 UTSW 5 72,279,497 (GRCm39) missense probably benign 0.03
PIT4445001:Gabrb1 UTSW 5 72,266,125 (GRCm39) missense probably damaging 1.00
PIT4515001:Gabrb1 UTSW 5 71,858,160 (GRCm39) missense probably damaging 1.00
R0109:Gabrb1 UTSW 5 72,279,289 (GRCm39) splice site probably benign
R0386:Gabrb1 UTSW 5 72,266,150 (GRCm39) missense probably damaging 0.99
R1512:Gabrb1 UTSW 5 72,266,048 (GRCm39) missense probably damaging 1.00
R1512:Gabrb1 UTSW 5 72,266,047 (GRCm39) missense probably damaging 1.00
R1717:Gabrb1 UTSW 5 72,265,694 (GRCm39) splice site probably null
R1832:Gabrb1 UTSW 5 72,279,281 (GRCm39) splice site probably null
R1961:Gabrb1 UTSW 5 71,857,679 (GRCm39) missense probably benign 0.28
R2363:Gabrb1 UTSW 5 72,026,916 (GRCm39) nonsense probably null
R4686:Gabrb1 UTSW 5 71,857,365 (GRCm39) missense possibly damaging 0.53
R4840:Gabrb1 UTSW 5 71,858,154 (GRCm39) missense probably damaging 1.00
R4916:Gabrb1 UTSW 5 72,026,764 (GRCm39) missense probably damaging 1.00
R4941:Gabrb1 UTSW 5 72,294,121 (GRCm39) missense probably damaging 1.00
R5250:Gabrb1 UTSW 5 72,026,922 (GRCm39) missense possibly damaging 0.80
R5270:Gabrb1 UTSW 5 72,265,669 (GRCm39) missense probably damaging 1.00
R5364:Gabrb1 UTSW 5 72,294,105 (GRCm39) missense probably benign 0.33
R5407:Gabrb1 UTSW 5 72,279,364 (GRCm39) missense possibly damaging 0.90
R5621:Gabrb1 UTSW 5 72,266,071 (GRCm39) missense probably damaging 1.00
R5790:Gabrb1 UTSW 5 72,293,827 (GRCm39) missense possibly damaging 0.53
R6236:Gabrb1 UTSW 5 72,265,663 (GRCm39) missense probably damaging 1.00
R6336:Gabrb1 UTSW 5 72,187,241 (GRCm39) missense possibly damaging 0.72
R7411:Gabrb1 UTSW 5 72,279,538 (GRCm39) critical splice donor site probably null
R8375:Gabrb1 UTSW 5 72,187,172 (GRCm39) missense probably damaging 0.98
R9161:Gabrb1 UTSW 5 72,187,199 (GRCm39) missense probably damaging 0.98
R9474:Gabrb1 UTSW 5 72,265,690 (GRCm39) missense probably damaging 1.00
R9621:Gabrb1 UTSW 5 72,279,363 (GRCm39) missense possibly damaging 0.90
Posted On 2013-12-03