Incidental Mutation 'IGL02170:Gabrb1'
ID282856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrb1
Ensembl Gene ENSMUSG00000029212
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit beta 1
SynonymsGabrb-1, B230208N19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02170
Quality Score
Status
Chromosome5
Chromosomal Location71658113-72149037 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72136730 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 449 (I449K)
Ref Sequence ENSEMBL: ENSMUSP00000031122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031122]
Predicted Effect probably damaging
Transcript: ENSMUST00000031122
AA Change: I449K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: I449K

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 17,118,332 P176L probably damaging Het
4932414N04Rik A G 2: 68,731,123 M265V probably benign Het
A2ml1 T C 6: 128,547,210 E1153G possibly damaging Het
Adam22 T C 5: 8,134,845 T452A probably benign Het
Ambra1 A G 2: 91,767,087 T56A possibly damaging Het
Atp1a4 A G 1: 172,234,536 V674A possibly damaging Het
AW549877 C T 15: 3,986,366 V239I probably benign Het
Ccnb1 A T 13: 100,783,486 Y172* probably null Het
Chrdl2 A T 7: 100,034,614 T416S possibly damaging Het
Col6a5 A G 9: 105,928,422 L1095P unknown Het
Dhx16 T C 17: 35,889,469 C901R probably damaging Het
Dip2c A G 13: 9,606,335 T732A probably benign Het
Dnah12 A C 14: 26,773,112 I1376L probably damaging Het
Dock2 A T 11: 34,267,949 L1207Q probably damaging Het
Eif2ak1 A T 5: 143,879,460 H192L probably benign Het
Evi5 T A 5: 107,821,884 T54S probably benign Het
Fam151a T C 4: 106,735,598 probably null Het
Fam98a C T 17: 75,540,192 probably null Het
Frmd4a G A 2: 4,566,177 R306K probably damaging Het
Fxyd7 C A 7: 31,045,007 V28L possibly damaging Het
Gkn3 G T 6: 87,383,511 D167E possibly damaging Het
Gm14496 A T 2: 181,996,351 Y406F probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Gm8603 T A 17: 13,516,811 noncoding transcript Het
Hecw1 T C 13: 14,264,158 N880S possibly damaging Het
Hivep2 C A 10: 14,127,804 Q49K possibly damaging Het
Hscb T A 5: 110,839,626 S35C probably damaging Het
Hspa12a T G 19: 58,804,681 K357N probably benign Het
Kcnu1 A T 8: 25,937,560 I302F probably damaging Het
Krtap5-3 T A 7: 142,202,478 C351S unknown Het
Mvd A G 8: 122,438,008 V142A probably benign Het
Myo1f A T 17: 33,578,272 I143L probably benign Het
Ncoa7 T A 10: 30,689,853 E599D possibly damaging Het
Nfasc A T 1: 132,610,366 C495* probably null Het
Nfx1 G A 4: 41,018,019 G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 noncoding transcript Het
Nup85 T A 11: 115,577,931 V200E probably damaging Het
Olfr262 T C 19: 12,240,756 M302V probably benign Het
Olfr30 T A 11: 58,455,080 I290F probably damaging Het
Pask T C 1: 93,310,884 Q1293R possibly damaging Het
Ppfia2 T A 10: 106,800,785 S232T probably benign Het
Prr12 G A 7: 45,046,188 R1285W unknown Het
Slc1a1 T A 19: 28,902,753 F278I possibly damaging Het
Sos1 G T 17: 80,398,290 T1284N probably damaging Het
Sp2 T A 11: 96,956,210 Q475L probably damaging Het
Sspo A T 6: 48,467,983 T2134S possibly damaging Het
Tbx1 C A 16: 18,582,802 A300S probably benign Het
Tmem5 A T 10: 122,094,643 D126E probably damaging Het
Uap1 A C 1: 170,166,712 V65G probably benign Het
Ubr2 G A 17: 46,967,197 T738I probably benign Het
Uvrag A T 7: 99,109,090 Y81* probably null Het
Vmn2r116 T G 17: 23,384,933 I44S probably benign Het
Xkr8 A T 4: 132,728,377 Y228* probably null Het
Zbtb20 A G 16: 43,609,662 I106V possibly damaging Het
Zc3h7a C T 16: 11,146,395 S683N probably benign Het
Zfp146 A T 7: 30,162,480 C46S possibly damaging Het
Zfp871 T C 17: 32,775,688 E152G possibly damaging Het
Zfp90 T C 8: 106,419,524 V57A probably damaging Het
Zhx3 A T 2: 160,779,798 N816K probably damaging Het
Other mutations in Gabrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Gabrb1 APN 5 72108446 critical splice donor site probably null
IGL00774:Gabrb1 APN 5 72108446 critical splice donor site probably null
IGL01534:Gabrb1 APN 5 71869429 missense possibly damaging 0.95
IGL02326:Gabrb1 APN 5 71700847 missense probably damaging 0.99
IGL03278:Gabrb1 APN 5 71869596 missense probably damaging 1.00
IGL03345:Gabrb1 APN 5 72136565 missense possibly damaging 0.53
IGL03050:Gabrb1 UTSW 5 72122154 missense probably benign 0.03
PIT4445001:Gabrb1 UTSW 5 72108782 missense probably damaging 1.00
PIT4515001:Gabrb1 UTSW 5 71700817 missense probably damaging 1.00
R0109:Gabrb1 UTSW 5 72121946 splice site probably benign
R0386:Gabrb1 UTSW 5 72108807 missense probably damaging 0.99
R1512:Gabrb1 UTSW 5 72108704 missense probably damaging 1.00
R1512:Gabrb1 UTSW 5 72108705 missense probably damaging 1.00
R1717:Gabrb1 UTSW 5 72108351 splice site probably null
R1832:Gabrb1 UTSW 5 72121938 splice site probably null
R1961:Gabrb1 UTSW 5 71700336 missense probably benign 0.28
R2363:Gabrb1 UTSW 5 71869573 nonsense probably null
R4686:Gabrb1 UTSW 5 71700022 missense possibly damaging 0.53
R4840:Gabrb1 UTSW 5 71700811 missense probably damaging 1.00
R4916:Gabrb1 UTSW 5 71869421 missense probably damaging 1.00
R4941:Gabrb1 UTSW 5 72136778 missense probably damaging 1.00
R5250:Gabrb1 UTSW 5 71869579 missense possibly damaging 0.80
R5270:Gabrb1 UTSW 5 72108326 missense probably damaging 1.00
R5364:Gabrb1 UTSW 5 72136762 missense probably benign 0.33
R5407:Gabrb1 UTSW 5 72122021 missense possibly damaging 0.90
R5621:Gabrb1 UTSW 5 72108728 missense probably damaging 1.00
R5790:Gabrb1 UTSW 5 72136484 missense possibly damaging 0.53
R6236:Gabrb1 UTSW 5 72108320 missense probably damaging 1.00
R6336:Gabrb1 UTSW 5 72029898 missense possibly damaging 0.72
R7411:Gabrb1 UTSW 5 72122195 critical splice donor site probably null
R8375:Gabrb1 UTSW 5 72029829 missense probably damaging 0.98
Posted On2015-04-16