Incidental Mutation 'IGL02688:Gabra4'
ID303636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabra4
Ensembl Gene ENSMUSG00000029211
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit alpha 4
SynonymsGabra-4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02688
Quality Score
Status
Chromosome5
Chromosomal Location71569749-71658308 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 71572167 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 423 (E423D)
Ref Sequence ENSEMBL: ENSMUSP00000143675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031121] [ENSMUST00000197994] [ENSMUST00000198138] [ENSMUST00000199357]
Predicted Effect probably benign
Transcript: ENSMUST00000031121
AA Change: E397D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: E397D

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Neur_chan_LBD 48 256 8.8e-52 PFAM
Pfam:Neur_chan_memb 263 536 3.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197994
Predicted Effect unknown
Transcript: ENSMUST00000198138
AA Change: I88F
SMART Domains Protein: ENSMUSP00000142466
Gene: ENSMUSG00000029211
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SCOP:d1i9ba_ 53 69 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199357
AA Change: E423D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: E423D

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Neur_chan_LBD 91 282 1.7e-45 PFAM
Pfam:Neur_chan_memb 289 562 3.3e-44 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C A 8: 40,826,320 R583S probably benign Het
Bcl9l C T 9: 44,505,263 T211I possibly damaging Het
C6 A G 15: 4,798,320 I724V probably benign Het
Cacna2d4 T A 6: 119,270,749 probably null Het
Casp4 A G 9: 5,322,844 E40G possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Dnah7a A C 1: 53,444,472 M3382R possibly damaging Het
Dst T C 1: 34,195,952 L3526P probably damaging Het
Eya4 A G 10: 23,159,110 S116P probably benign Het
Ighv1-67 T G 12: 115,604,023 T90P probably damaging Het
Kcnh8 A G 17: 52,959,443 T828A probably benign Het
Nr5a2 A G 1: 136,940,407 probably null Het
Nup214 C T 2: 32,031,275 P1237S probably benign Het
Phactr3 A G 2: 178,278,999 D215G probably damaging Het
Phf2 G T 13: 48,805,839 P897Q unknown Het
Pla2r1 T C 2: 60,455,201 R690G probably damaging Het
Ppargc1b A G 18: 61,312,243 S181P possibly damaging Het
Sele A T 1: 164,050,130 I165F probably damaging Het
Srcap T C 7: 127,542,453 S1626P probably benign Het
Tenm2 A G 11: 36,068,458 I1088T probably benign Het
Tnrc18 T C 5: 142,790,172 S69G probably damaging Het
Trmt5 C A 12: 73,281,458 E324* probably null Het
Ttll3 T C 6: 113,399,739 I360T probably benign Het
Zfp277 A G 12: 40,328,688 V390A possibly damaging Het
Other mutations in Gabra4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Gabra4 APN 5 71633629 missense probably damaging 1.00
IGL01503:Gabra4 APN 5 71641086 missense possibly damaging 0.60
IGL02028:Gabra4 APN 5 71633596 missense probably damaging 1.00
IGL02749:Gabra4 APN 5 71638147 missense probably benign 0.42
IGL03095:Gabra4 APN 5 71624015 missense probably damaging 1.00
IGL03330:Gabra4 APN 5 71641064 missense probably null 1.00
E0354:Gabra4 UTSW 5 71640861 missense probably damaging 1.00
PIT4142001:Gabra4 UTSW 5 71571763 missense probably damaging 1.00
R1523:Gabra4 UTSW 5 71633632 missense probably damaging 1.00
R1622:Gabra4 UTSW 5 71571986 missense possibly damaging 0.57
R1689:Gabra4 UTSW 5 71633542 splice site probably null
R1930:Gabra4 UTSW 5 71638237 missense probably damaging 1.00
R1931:Gabra4 UTSW 5 71638237 missense probably damaging 1.00
R1967:Gabra4 UTSW 5 71572069 missense possibly damaging 0.87
R2095:Gabra4 UTSW 5 71624112 missense probably damaging 0.99
R2131:Gabra4 UTSW 5 71641224 missense probably benign 0.00
R2698:Gabra4 UTSW 5 71572078 missense probably benign 0.03
R3884:Gabra4 UTSW 5 71657257 missense probably benign 0.33
R3924:Gabra4 UTSW 5 71642253 splice site probably benign
R4029:Gabra4 UTSW 5 71572189 missense probably benign 0.31
R4361:Gabra4 UTSW 5 71633545 critical splice donor site probably null
R4659:Gabra4 UTSW 5 71641144 missense probably damaging 1.00
R4682:Gabra4 UTSW 5 71657809 start codon destroyed probably null 0.74
R4810:Gabra4 UTSW 5 71623982 missense probably damaging 1.00
R4888:Gabra4 UTSW 5 71572203 missense probably benign 0.01
R5093:Gabra4 UTSW 5 71640864 missense probably damaging 1.00
R5121:Gabra4 UTSW 5 71572203 missense probably benign 0.01
R5889:Gabra4 UTSW 5 71571891 missense possibly damaging 0.61
R5906:Gabra4 UTSW 5 71623910 missense probably benign 0.00
R6574:Gabra4 UTSW 5 71623925 missense probably benign
R7068:Gabra4 UTSW 5 71572059 missense probably benign 0.07
R7571:Gabra4 UTSW 5 71571992 missense probably benign
R7815:Gabra4 UTSW 5 71657809 start codon destroyed possibly damaging 0.54
R7817:Gabra4 UTSW 5 71640863 missense probably damaging 1.00
R7840:Gabra4 UTSW 5 71640913 splice site probably null
R7899:Gabra4 UTSW 5 71657995 unclassified probably benign
R7923:Gabra4 UTSW 5 71640913 splice site probably null
R8000:Gabra4 UTSW 5 71623961 missense probably damaging 1.00
R8057:Gabra4 UTSW 5 71623952 missense probably benign 0.12
Z1176:Gabra4 UTSW 5 71623895 missense probably benign 0.40
Posted On2015-04-16