Incidental Mutation 'R6935:Gabrb3'
ID 540246
Institutional Source Beutler Lab
Gene Symbol Gabrb3
Ensembl Gene ENSMUSG00000033676
Gene Name GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3
Synonyms A230092K12Rik, Gabrb-3, beta3
MMRRC Submission 045008-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R6935 (G1)
Quality Score 133.008
Status Validated
Chromosome 7
Chromosomal Location 57240266-57478550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57241561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 29 (I29N)
Ref Sequence ENSEMBL: ENSMUSP00000118835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039697] [ENSMUST00000085240] [ENSMUST00000138350] [ENSMUST00000196198]
AlphaFold P63080
Predicted Effect probably benign
Transcript: ENSMUST00000039697
AA Change: I72N

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: I72N

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 possibly damaging
Transcript: ENSMUST00000085240
AA Change: I94N

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
AA Change: I94N

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: I29N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118835
Gene: ENSMUSG00000033676
AA Change: I29N

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 123 2.5e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196198
AA Change: I72N

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: I72N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 98% (41/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T A 14: 35,533,864 (GRCm39) H14L probably benign Het
Adar A G 3: 89,654,525 (GRCm39) N368D probably benign Het
Adcy10 T C 1: 165,334,204 (GRCm39) V71A probably benign Het
Ank1 C T 8: 23,598,247 (GRCm39) T755I probably damaging Het
Aoc1 A T 6: 48,885,161 (GRCm39) Y632F probably damaging Het
Bbc3 A G 7: 16,046,124 (GRCm39) D20G possibly damaging Het
Bche T G 3: 73,609,133 (GRCm39) I98L probably benign Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Col12a1 A G 9: 79,607,782 (GRCm39) Y349H possibly damaging Het
Crip2 T C 12: 113,104,213 (GRCm39) C8R probably damaging Het
Dhx58 T A 11: 100,589,232 (GRCm39) probably null Het
Dnah2 G A 11: 69,312,567 (GRCm39) R4333C probably damaging Het
Dnajb12 T C 10: 59,732,325 (GRCm39) probably null Het
Dzank1 T C 2: 144,318,014 (GRCm39) E718G possibly damaging Het
Erfl C A 7: 24,627,986 (GRCm39) G181V possibly damaging Het
Fbxo28 C T 1: 182,169,025 (GRCm39) G38R unknown Het
Foxb2 A G 19: 16,849,983 (GRCm39) F341S probably benign Het
Gm7298 G A 6: 121,744,653 (GRCm39) R557H probably benign Het
Itih3 T A 14: 30,634,659 (GRCm39) Q116L possibly damaging Het
Lingo1 T C 9: 56,527,149 (GRCm39) Y480C probably damaging Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Mbd5 A G 2: 49,169,824 (GRCm39) Y113C probably damaging Het
Mcm3ap C T 10: 76,340,087 (GRCm39) P1453S possibly damaging Het
Mdn1 T G 4: 32,774,041 (GRCm39) F5551V possibly damaging Het
Myo16 T A 8: 10,619,820 (GRCm39) M1457K probably benign Het
Nbeal2 T A 9: 110,468,459 (GRCm39) E372V probably damaging Het
Ncam2 T A 16: 81,323,879 (GRCm39) S508T probably benign Het
Nebl A T 2: 17,353,637 (GRCm39) D971E probably damaging Het
Nlrp10 A T 7: 108,526,107 (GRCm39) M77K probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or2y1d A G 11: 49,321,825 (GRCm39) N174S probably damaging Het
Or52ad1 A T 7: 102,996,002 (GRCm39) N44K probably damaging Het
Or8c18 G T 9: 38,203,413 (GRCm39) M57I probably benign Het
Pidd1 A T 7: 141,020,215 (GRCm39) D570E probably damaging Het
Ppfia3 T C 7: 45,001,631 (GRCm39) D427G possibly damaging Het
Prex1 T C 2: 166,441,575 (GRCm39) Y364C probably damaging Het
Prlr A G 15: 10,319,388 (GRCm39) S142G probably damaging Het
Rack1 T C 11: 48,694,322 (GRCm39) V174A probably damaging Het
Rhbdl3 C T 11: 80,228,322 (GRCm39) A264V probably damaging Het
Sh3bp5 T A 14: 31,101,473 (GRCm39) M170L probably damaging Het
Skint5 A T 4: 113,799,793 (GRCm39) F125L possibly damaging Het
Slc6a4 T C 11: 76,917,994 (GRCm39) Y579H probably benign Het
Tmem106b A T 6: 13,081,554 (GRCm39) T154S possibly damaging Het
Xrcc5 A G 1: 72,382,189 (GRCm39) D455G possibly 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
IGL02092:Gabrb3 APN 7 57,415,334 (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
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
Predicted Primers PCR Primer
(F):5'- CAAGCTGTTGAAAGGCTACG -3'
(R):5'- TGAAATGCCTGGGTGCATC -3'

Sequencing Primer
(F):5'- GCTGTTGAAAGGCTACGACATTC -3'
(R):5'- ACTCTGGGCCAGTCTAGGAC -3'
Posted On 2018-11-06