Incidental Mutation 'IGL00774:Gabrb1'
ID 277926
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 # IGL00774
Quality Score
Status
Chromosome 5
Chromosomal Location 71815456-72306380 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 72265789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031122] [ENSMUST00000199967]
AlphaFold P50571
Predicted Effect probably null
Transcript: ENSMUST00000031122
SMART Domains Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212

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 null
Transcript: ENSMUST00000199967
SMART Domains Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,306,776 (GRCm39) A1397T possibly damaging Het
Aldob A G 4: 49,536,843 (GRCm39) S349P probably benign Het
Cd2 A T 3: 101,190,345 (GRCm39) probably null Het
Cmtm2a A G 8: 105,019,562 (GRCm39) S43P probably damaging Het
Cts6 T C 13: 61,346,153 (GRCm39) probably benign Het
Cyp4a10 A T 4: 115,389,735 (GRCm39) I447F probably damaging Het
E2f3 A T 13: 30,102,687 (GRCm39) D68E probably damaging Het
Ect2 G A 3: 27,152,592 (GRCm39) R869W probably damaging Het
Eml1 A G 12: 108,480,774 (GRCm39) probably null Het
Fundc1 T A X: 17,424,252 (GRCm39) probably null Het
Lrrk2 T G 15: 91,686,036 (GRCm39) probably benign Het
Map3k2 C T 18: 32,361,292 (GRCm39) P584L probably benign Het
Mindy2 T C 9: 70,538,315 (GRCm39) D340G probably benign Het
Nav3 T C 10: 109,652,124 (GRCm39) D877G probably damaging Het
Nol9 T C 4: 152,136,472 (GRCm39) S515P probably benign Het
Osgepl1 A G 1: 53,359,405 (GRCm39) I305V probably benign Het
Pign A G 1: 105,525,481 (GRCm39) V449A probably benign Het
Rad54b G A 4: 11,593,765 (GRCm39) R131K probably benign Het
Rgl3 A T 9: 21,899,018 (GRCm39) probably benign Het
Scn2a A G 2: 65,566,197 (GRCm39) D1407G probably damaging Het
Sf3b3 A T 8: 111,544,270 (GRCm39) I790N probably damaging Het
Srebf1 C T 11: 60,095,965 (GRCm39) R358Q probably damaging Het
Tmem18 A G 12: 30,638,720 (GRCm39) R133G unknown Het
Tnfrsf11b T G 15: 54,117,468 (GRCm39) R262S probably benign Het
Tsc1 A T 2: 28,555,023 (GRCm39) H171L probably damaging Het
Ubr5 T C 15: 38,006,785 (GRCm39) T1157A probably benign Het
Wdcp A G 12: 4,905,303 (GRCm39) E608G probably damaging Het
Zbtb40 T G 4: 136,721,835 (GRCm39) H848P probably damaging Het
Other mutations in Gabrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Gabrb1 APN 5 72,265,789 (GRCm39) critical splice donor site probably null
IGL01534:Gabrb1 APN 5 72,026,772 (GRCm39) missense possibly damaging 0.95
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 2015-04-16