Incidental Mutation 'IGL01878:Gabrb3'
ID178954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabrb3
Ensembl Gene ENSMUSG00000033676
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit beta 3
SynonymsA230092K12Rik, Gabrb-3, beta3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.610) question?
Stock #IGL01878
Quality Score
Status
Chromosome7
Chromosomal Location57419692-57828802 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57816415 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 326 (F326L)
Ref Sequence ENSEMBL: ENSMUSP00000143353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039697] [ENSMUST00000085240] [ENSMUST00000138350] [ENSMUST00000196198]
Predicted Effect probably benign
Transcript: ENSMUST00000039697
AA Change: F326L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000038051
Gene: ENSMUSG00000033676
AA Change: F326L

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 benign
Transcript: ENSMUST00000085240
AA Change: F348L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000082337
Gene: ENSMUSG00000033676
AA Change: F348L

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 noncoding transcript
Transcript: ENSMUST00000136033
Predicted Effect probably benign
Transcript: ENSMUST00000138350
SMART Domains Protein: ENSMUSP00000118835
Gene: ENSMUSG00000033676

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 123 2.5e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196198
AA Change: F326L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143353
Gene: ENSMUSG00000033676
AA Change: F326L

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Gabrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Gabrb3 APN 7 57816478 missense probably benign 0.00
IGL02092:Gabrb3 APN 7 57765586 missense probably damaging 1.00
IGL02193:Gabrb3 APN 7 57792516 missense probably damaging 1.00
IGL02676:Gabrb3 APN 7 57591364 intron probably benign
R0325:Gabrb3 UTSW 7 57765530 missense probably damaging 1.00
R1560:Gabrb3 UTSW 7 57816295 missense probably damaging 0.98
R1562:Gabrb3 UTSW 7 57765514 nonsense probably null
R1714:Gabrb3 UTSW 7 57765428 missense probably damaging 1.00
R2054:Gabrb3 UTSW 7 57824493 missense probably benign 0.04
R4134:Gabrb3 UTSW 7 57591288 missense probably benign 0.01
R4135:Gabrb3 UTSW 7 57591288 missense probably benign 0.01
R4176:Gabrb3 UTSW 7 57591313 missense probably benign 0.00
R4761:Gabrb3 UTSW 7 57765502 missense probably damaging 1.00
R4869:Gabrb3 UTSW 7 57792459 intron probably benign
R5247:Gabrb3 UTSW 7 57590591 missense possibly damaging 0.96
R6935:Gabrb3 UTSW 7 57591813 missense probably damaging 0.99
R7479:Gabrb3 UTSW 7 57824423 missense possibly damaging 0.74
R7562:Gabrb3 UTSW 7 57812178 nonsense probably null
R7692:Gabrb3 UTSW 7 57816455 missense probably damaging 1.00
X0064:Gabrb3 UTSW 7 57812185 missense probably damaging 1.00
Posted On2014-05-07