Incidental Mutation 'IGL02092:Gabrb3'
ID 279467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrb3
Ensembl Gene ENSMUSG00000033676
Gene Name GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3
Synonyms A230092K12Rik, Gabrb-3, beta3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # IGL02092
Quality Score
Status
Chromosome 7
Chromosomal Location 57240266-57478550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57415334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 135 (T135A)
Ref Sequence ENSEMBL: ENSMUSP00000038051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039697] [ENSMUST00000085240] [ENSMUST00000138350] [ENSMUST00000196198]
AlphaFold P63080
Predicted Effect probably damaging
Transcript: ENSMUST00000039697
AA Change: T135A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: T135A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Neur_chan_LBD 37 243 1.3e-53 PFAM
Pfam:Neur_chan_memb 250 468 2.4e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085240
AA Change: T157A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
AA Change: T157A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neur_chan_LBD 37 243 5.1e-51 PFAM
Pfam:Neur_chan_memb 250 468 1.8e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138350
AA Change: T92A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118835
Gene: ENSMUSG00000033676
AA Change: T92A

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 123 2.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156375
Predicted Effect probably damaging
Transcript: ENSMUST00000196198
AA Change: T135A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: T135A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neur_chan_LBD 37 243 9.7e-54 PFAM
Pfam:Neur_chan_memb 250 468 2e-55 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mutants die at birth with cleft palate. Survivors show delayed growth, reduced lifespan, seizures, ataxia, hyperactivity, hyperresponsiveness and reduced learning, mothering ability and REM sleep. A point mutation lowers anesthetic effect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010H22Rik T A 5: 98,714,627 (GRCm39) probably benign Het
Birc7 A T 2: 180,574,979 (GRCm39) R238S probably benign Het
Cdc42bpg C A 19: 6,366,856 (GRCm39) probably benign Het
Ces3a T C 8: 105,776,962 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,211,137 (GRCm39) F517S probably damaging Het
Cracr2b A G 7: 141,044,869 (GRCm39) E201G probably damaging Het
Cyth3 T C 5: 143,693,140 (GRCm39) probably benign Het
Exoc2 A T 13: 31,059,260 (GRCm39) N611K probably benign Het
Fign A T 2: 63,810,927 (GRCm39) N114K possibly damaging Het
Htra3 T C 5: 35,828,416 (GRCm39) K155E probably damaging Het
Inpp5f T C 7: 128,286,948 (GRCm39) L609S probably damaging Het
Kcp C A 6: 29,489,031 (GRCm39) probably null Het
Map4k4 A G 1: 40,025,943 (GRCm39) K311R probably benign Het
Map4k4 A G 1: 40,063,508 (GRCm39) K1228E probably damaging Het
Muc20 G A 16: 32,614,642 (GRCm39) S245F probably damaging Het
Or10ak8 A G 4: 118,774,187 (GRCm39) L159S possibly damaging Het
Or7g33 T A 9: 19,449,046 (GRCm39) Y60F probably damaging Het
Or8b36 T G 9: 37,937,917 (GRCm39) S272A possibly damaging Het
Pi4ka A G 16: 17,136,360 (GRCm39) M892T probably benign Het
Ptpn22 A G 3: 103,784,637 (GRCm39) T234A probably damaging Het
Sema4g G A 19: 44,981,078 (GRCm39) probably null Het
Slc35a3 A G 3: 116,474,781 (GRCm39) S204P probably damaging Het
Speer4f2 C T 5: 17,581,627 (GRCm39) Q190* probably null Het
Szt2 A G 4: 118,220,529 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,900 (GRCm39) Y104H probably damaging Het
Trim23 A G 13: 104,324,120 (GRCm39) E173G probably benign Het
Trpm6 T C 19: 18,749,695 (GRCm39) I8T possibly damaging Het
Trpv1 T A 11: 73,136,905 (GRCm39) probably benign Het
Ufsp2 T C 8: 46,448,701 (GRCm39) probably null Het
Wwc2 T C 8: 48,317,570 (GRCm39) D669G unknown Het
Zfp940 T C 7: 29,545,626 (GRCm39) T94A probably benign Het
Zfp947 T G 17: 22,366,477 (GRCm39) D17A probably damaging Het
Other mutations in Gabrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Gabrb3 APN 7 57,466,226 (GRCm39) missense probably benign 0.00
IGL01878:Gabrb3 APN 7 57,466,163 (GRCm39) missense probably damaging 1.00
IGL02193:Gabrb3 APN 7 57,442,264 (GRCm39) missense probably damaging 1.00
IGL02676:Gabrb3 APN 7 57,241,112 (GRCm39) intron probably benign
R0325:Gabrb3 UTSW 7 57,415,278 (GRCm39) missense probably damaging 1.00
R1560:Gabrb3 UTSW 7 57,466,043 (GRCm39) missense probably damaging 0.98
R1562:Gabrb3 UTSW 7 57,415,262 (GRCm39) nonsense probably null
R1714:Gabrb3 UTSW 7 57,415,176 (GRCm39) missense probably damaging 1.00
R2054:Gabrb3 UTSW 7 57,474,241 (GRCm39) missense probably benign 0.04
R4134:Gabrb3 UTSW 7 57,241,036 (GRCm39) missense probably benign 0.01
R4135:Gabrb3 UTSW 7 57,241,036 (GRCm39) missense probably benign 0.01
R4176:Gabrb3 UTSW 7 57,241,061 (GRCm39) missense probably benign 0.00
R4761:Gabrb3 UTSW 7 57,415,250 (GRCm39) missense probably damaging 1.00
R4869:Gabrb3 UTSW 7 57,442,207 (GRCm39) intron probably benign
R5247:Gabrb3 UTSW 7 57,240,339 (GRCm39) missense possibly damaging 0.96
R6935:Gabrb3 UTSW 7 57,241,561 (GRCm39) missense probably damaging 0.99
R7479:Gabrb3 UTSW 7 57,474,171 (GRCm39) missense possibly damaging 0.74
R7562:Gabrb3 UTSW 7 57,461,926 (GRCm39) nonsense probably null
R7692:Gabrb3 UTSW 7 57,466,203 (GRCm39) missense probably damaging 1.00
R8530:Gabrb3 UTSW 7 57,461,819 (GRCm39) missense probably damaging 1.00
R8819:Gabrb3 UTSW 7 57,442,329 (GRCm39) missense probably damaging 1.00
R8820:Gabrb3 UTSW 7 57,442,329 (GRCm39) missense probably damaging 1.00
R9223:Gabrb3 UTSW 7 57,466,152 (GRCm39) missense probably damaging 1.00
R9651:Gabrb3 UTSW 7 57,415,202 (GRCm39) missense probably damaging 1.00
X0064:Gabrb3 UTSW 7 57,461,933 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16