Incidental Mutation 'IGL02170:Gabrb1'
ID 282856
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 # IGL02170
Quality Score
Status
Chromosome 5
Chromosomal Location 71815456-72306380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72294073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 449 (I449K)
Ref Sequence ENSEMBL: ENSMUSP00000031122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031122]
AlphaFold P50571
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: 16,936,196 (GRCm39) P176L probably damaging Het
4932414N04Rik A G 2: 68,561,467 (GRCm39) M265V probably benign Het
A2ml1 T C 6: 128,524,173 (GRCm39) E1153G possibly damaging Het
Adam22 T C 5: 8,184,845 (GRCm39) T452A probably benign Het
Ambra1 A G 2: 91,597,432 (GRCm39) T56A possibly damaging Het
Atp1a4 A G 1: 172,062,103 (GRCm39) V674A possibly damaging Het
Ccnb1 A T 13: 100,919,994 (GRCm39) Y172* probably null Het
Chrdl2 A T 7: 99,683,821 (GRCm39) T416S possibly damaging Het
Col6a5 A G 9: 105,805,621 (GRCm39) L1095P unknown Het
Dhx16 T C 17: 36,200,361 (GRCm39) C901R probably damaging Het
Dip2c A G 13: 9,656,371 (GRCm39) T732A probably benign Het
Dnah12 A C 14: 26,495,069 (GRCm39) I1376L probably damaging Het
Dock2 A T 11: 34,217,949 (GRCm39) L1207Q probably damaging Het
Eif2ak1 A T 5: 143,816,278 (GRCm39) H192L probably benign Het
Evi5 T A 5: 107,969,750 (GRCm39) T54S probably benign Het
Fam151a T C 4: 106,592,795 (GRCm39) probably null Het
Fam98a C T 17: 75,847,187 (GRCm39) probably null Het
Frmd4a G A 2: 4,570,988 (GRCm39) R306K probably damaging Het
Fxyd7 C A 7: 30,744,432 (GRCm39) V28L possibly damaging Het
Gkn3 G T 6: 87,360,493 (GRCm39) D167E possibly damaging Het
Gm14496 A T 2: 181,638,144 (GRCm39) Y406F probably damaging Het
Gm8603 T A 17: 13,737,073 (GRCm39) noncoding transcript Het
Hecw1 T C 13: 14,438,743 (GRCm39) N880S possibly damaging Het
Hivep2 C A 10: 14,003,548 (GRCm39) Q49K possibly damaging Het
Hscb T A 5: 110,987,492 (GRCm39) S35C probably damaging Het
Hspa12a T G 19: 58,793,113 (GRCm39) K357N probably benign Het
Kcnu1 A T 8: 26,427,588 (GRCm39) I302F probably damaging Het
Krtap5-3 T A 7: 141,756,215 (GRCm39) C351S unknown Het
Mvd A G 8: 123,164,747 (GRCm39) V142A probably benign Het
Myo1f A T 17: 33,797,246 (GRCm39) I143L probably benign Het
Ncoa7 T A 10: 30,565,849 (GRCm39) E599D possibly damaging Het
Nfasc A T 1: 132,538,104 (GRCm39) C495* probably null Het
Nfx1 G A 4: 41,018,019 (GRCm39) G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 (GRCm38) noncoding transcript Het
Nup85 T A 11: 115,468,757 (GRCm39) V200E probably damaging Het
Or2z2 T A 11: 58,345,906 (GRCm39) I290F probably damaging Het
Or5an1c T C 19: 12,218,120 (GRCm39) M302V probably benign Het
Pask T C 1: 93,238,606 (GRCm39) Q1293R possibly damaging Het
Ppfia2 T A 10: 106,636,646 (GRCm39) S232T probably benign Het
Prr12 G A 7: 44,695,612 (GRCm39) R1285W unknown Het
Rimoc1 C T 15: 4,015,848 (GRCm39) V239I probably benign Het
Rxylt1 A T 10: 121,930,548 (GRCm39) D126E probably damaging Het
Slc1a1 T A 19: 28,880,153 (GRCm39) F278I possibly damaging Het
Sos1 G T 17: 80,705,719 (GRCm39) T1284N probably damaging Het
Sp2 T A 11: 96,847,036 (GRCm39) Q475L probably damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Sspo A T 6: 48,444,917 (GRCm39) T2134S possibly damaging Het
Tbx1 C A 16: 18,401,552 (GRCm39) A300S probably benign Het
Uap1 A C 1: 169,994,281 (GRCm39) V65G probably benign Het
Ubr2 G A 17: 47,278,123 (GRCm39) T738I probably benign Het
Uvrag A T 7: 98,758,297 (GRCm39) Y81* probably null Het
Vmn2r116 T G 17: 23,603,907 (GRCm39) I44S probably benign Het
Xkr8 A T 4: 132,455,688 (GRCm39) Y228* probably null Het
Zbtb20 A G 16: 43,430,025 (GRCm39) I106V possibly damaging Het
Zc3h7a C T 16: 10,964,259 (GRCm39) S683N probably benign Het
Zfp146 A T 7: 29,861,905 (GRCm39) C46S possibly damaging Het
Zfp871 T C 17: 32,994,662 (GRCm39) E152G possibly damaging Het
Zfp90 T C 8: 107,146,156 (GRCm39) V57A probably damaging Het
Zhx3 A T 2: 160,621,718 (GRCm39) N816K 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
IGL01534:Gabrb1 APN 5 72,026,772 (GRCm39) missense possibly damaging 0.95
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