Incidental Mutation 'R5407:Gabrb1'
ID 426322
Institutional Source Beutler Lab
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 # R5407 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 71815456-72306380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72279364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 303 (V303A)
Ref Sequence ENSEMBL: ENSMUSP00000031122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031122]
AlphaFold P50571
Predicted Effect possibly damaging
Transcript: ENSMUST00000031122
AA Change: V303A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031122
Gene: ENSMUSG00000029212
AA Change: V303A

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T C 4: 144,396,895 (GRCm39) K279R probably benign Het
Aldoart2 A C 12: 55,612,981 (GRCm39) Y302S probably damaging Het
Arpp21 G T 9: 111,945,821 (GRCm39) probably benign Het
Camk1g C T 1: 193,029,680 (GRCm39) probably null Het
Cand2 G A 6: 115,762,161 (GRCm39) V196I possibly damaging Het
Cdc25b T A 2: 131,035,567 (GRCm39) L381Q probably damaging Het
Col17a1 C T 19: 47,654,946 (GRCm39) G610E probably damaging Het
Col19a1 C T 1: 24,342,575 (GRCm39) E797K probably damaging Het
Col3a1 A T 1: 45,385,212 (GRCm39) I110L probably benign Het
Col5a2 T A 1: 45,445,440 (GRCm39) D506V possibly damaging Het
Crp A T 1: 172,525,676 (GRCm39) probably null Het
Esco1 G T 18: 10,574,886 (GRCm39) H729N probably damaging Het
Evx2 A G 2: 74,488,170 (GRCm39) S217P probably damaging Het
Gcnt3 A G 9: 69,941,471 (GRCm39) Y366H probably benign Het
Gmpr2 A G 14: 55,915,733 (GRCm39) T304A possibly damaging Het
Golga3 C T 5: 110,349,856 (GRCm39) Q656* probably null Het
Gramd1b T A 9: 40,366,951 (GRCm39) M6L probably damaging Het
Kif17 T C 4: 138,025,532 (GRCm39) Y945H probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lrrk1 T A 7: 65,920,545 (GRCm39) Q1486L probably benign Het
Mboat7 G T 7: 3,694,380 (GRCm39) H72N probably damaging Het
Med12l G A 3: 59,165,622 (GRCm39) V1447M probably damaging Het
Mrpl3 T C 9: 104,954,294 (GRCm39) F333L probably benign Het
Nav3 T C 10: 109,702,796 (GRCm39) T246A probably benign Het
Neil3 A T 8: 54,054,054 (GRCm39) V325E probably benign Het
Nlrp4g A T 9: 124,349,930 (GRCm38) noncoding transcript Het
Onecut1 C T 9: 74,796,738 (GRCm39) S419F probably damaging Het
Or10n1 A T 9: 39,524,991 (GRCm39) I43F probably damaging Het
Ptp4a1 A T 1: 30,984,044 (GRCm39) V58E probably benign Het
Radil C T 5: 142,493,970 (GRCm39) R49H probably damaging Het
Ralgapa1 T C 12: 55,723,582 (GRCm39) E1648G possibly damaging Het
Rnft2 C T 5: 118,380,567 (GRCm39) M13I probably damaging Het
Satb2 A G 1: 56,987,309 (GRCm39) L92P probably damaging Het
Scn4a T C 11: 106,211,715 (GRCm39) Y1434C probably damaging Het
Setx T A 2: 29,035,486 (GRCm39) M657K probably benign Het
Shd A G 17: 56,280,936 (GRCm39) E204G probably damaging Het
Shh T A 5: 28,671,578 (GRCm39) R62* probably null Het
Slc9a4 A G 1: 40,646,954 (GRCm39) T483A probably benign Het
Tbc1d7 A C 13: 43,308,178 (GRCm39) S96A probably benign Het
Tfcp2 T C 15: 100,425,755 (GRCm39) probably null Het
Tlk2 T A 11: 105,131,201 (GRCm39) S182R probably damaging Het
Tppp2 A G 14: 52,156,955 (GRCm39) probably null Het
Trim65 T C 11: 116,016,906 (GRCm39) T519A probably benign Het
Trio T C 15: 27,844,892 (GRCm39) probably null Het
Usf3 G A 16: 44,037,769 (GRCm39) V750I probably benign Het
Utrn T A 10: 12,556,369 (GRCm39) K1480N probably damaging Het
Vmn1r58 T A 7: 5,413,872 (GRCm39) R119S probably benign Het
Xirp2 A G 2: 67,341,313 (GRCm39) I1185V probably benign Het
Zc3h7b A G 15: 81,670,092 (GRCm39) H654R probably damaging Het
Zfyve16 G T 13: 92,636,792 (GRCm39) A1306E 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTCCTGCCATCAATTGTACTG -3'
(R):5'- GACGGGATTAGCAATATACAATGCC -3'

Sequencing Primer
(F):5'- CATCAATTGTACTGCACTGTGGCAG -3'
(R):5'- ACAATGCCTTACTTGGACTTTG -3'
Posted On 2016-09-01