Incidental Mutation 'IGL02688:Gabra4'
ID 303636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabra4
Ensembl Gene ENSMUSG00000029211
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 4
Synonyms Gabra-4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02688
Quality Score
Status
Chromosome 5
Chromosomal Location 71727092-71815651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71729510 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D6F4
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: 41,279,357 (GRCm39) R583S probably benign Het
Bcl9l C T 9: 44,416,560 (GRCm39) T211I possibly damaging Het
C6 A G 15: 4,827,802 (GRCm39) I724V probably benign Het
Cacna2d4 T A 6: 119,247,710 (GRCm39) probably null Het
Casp4 A G 9: 5,322,844 (GRCm39) E40G possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Dnah7a A C 1: 53,483,631 (GRCm39) M3382R possibly damaging Het
Dst T C 1: 34,235,033 (GRCm39) L3526P probably damaging Het
Eya4 A G 10: 23,035,008 (GRCm39) S116P probably benign Het
Ighv1-67 T G 12: 115,567,643 (GRCm39) T90P probably damaging Het
Kcnh8 A G 17: 53,266,471 (GRCm39) T828A probably benign Het
Nr5a2 A G 1: 136,868,145 (GRCm39) probably null Het
Nup214 C T 2: 31,921,287 (GRCm39) P1237S probably benign Het
Phactr3 A G 2: 177,920,792 (GRCm39) D215G probably damaging Het
Phf2 G T 13: 48,959,315 (GRCm39) P897Q unknown Het
Pla2r1 T C 2: 60,285,545 (GRCm39) R690G probably damaging Het
Ppargc1b A G 18: 61,445,314 (GRCm39) S181P possibly damaging Het
Sele A T 1: 163,877,699 (GRCm39) I165F probably damaging Het
Srcap T C 7: 127,141,625 (GRCm39) S1626P probably benign Het
Tenm2 A G 11: 35,959,285 (GRCm39) I1088T probably benign Het
Tnrc18 T C 5: 142,775,927 (GRCm39) S69G probably damaging Het
Trmt5 C A 12: 73,328,232 (GRCm39) E324* probably null Het
Ttll3 T C 6: 113,376,700 (GRCm39) I360T probably benign Het
Zfp277 A G 12: 40,378,687 (GRCm39) V390A possibly damaging Het
Other mutations in Gabra4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Gabra4 APN 5 71,790,972 (GRCm39) missense probably damaging 1.00
IGL01503:Gabra4 APN 5 71,798,429 (GRCm39) missense possibly damaging 0.60
IGL02028:Gabra4 APN 5 71,790,939 (GRCm39) missense probably damaging 1.00
IGL02749:Gabra4 APN 5 71,795,490 (GRCm39) missense probably benign 0.42
IGL03095:Gabra4 APN 5 71,781,358 (GRCm39) missense probably damaging 1.00
IGL03330:Gabra4 APN 5 71,798,407 (GRCm39) missense probably null 1.00
E0354:Gabra4 UTSW 5 71,798,204 (GRCm39) missense probably damaging 1.00
PIT4142001:Gabra4 UTSW 5 71,729,106 (GRCm39) missense probably damaging 1.00
R1523:Gabra4 UTSW 5 71,790,975 (GRCm39) missense probably damaging 1.00
R1622:Gabra4 UTSW 5 71,729,329 (GRCm39) missense possibly damaging 0.57
R1689:Gabra4 UTSW 5 71,790,885 (GRCm39) splice site probably null
R1930:Gabra4 UTSW 5 71,795,580 (GRCm39) missense probably damaging 1.00
R1931:Gabra4 UTSW 5 71,795,580 (GRCm39) missense probably damaging 1.00
R1967:Gabra4 UTSW 5 71,729,412 (GRCm39) missense possibly damaging 0.87
R2095:Gabra4 UTSW 5 71,781,455 (GRCm39) missense probably damaging 0.99
R2131:Gabra4 UTSW 5 71,798,567 (GRCm39) missense probably benign 0.00
R2698:Gabra4 UTSW 5 71,729,421 (GRCm39) missense probably benign 0.03
R3884:Gabra4 UTSW 5 71,814,600 (GRCm39) missense probably benign 0.33
R3924:Gabra4 UTSW 5 71,799,596 (GRCm39) splice site probably benign
R4029:Gabra4 UTSW 5 71,729,532 (GRCm39) missense probably benign 0.31
R4361:Gabra4 UTSW 5 71,790,888 (GRCm39) critical splice donor site probably null
R4659:Gabra4 UTSW 5 71,798,487 (GRCm39) missense probably damaging 1.00
R4682:Gabra4 UTSW 5 71,815,152 (GRCm39) start codon destroyed probably null 0.74
R4810:Gabra4 UTSW 5 71,781,325 (GRCm39) missense probably damaging 1.00
R4888:Gabra4 UTSW 5 71,729,546 (GRCm39) missense probably benign 0.01
R5093:Gabra4 UTSW 5 71,798,207 (GRCm39) missense probably damaging 1.00
R5121:Gabra4 UTSW 5 71,729,546 (GRCm39) missense probably benign 0.01
R5889:Gabra4 UTSW 5 71,729,234 (GRCm39) missense possibly damaging 0.61
R5906:Gabra4 UTSW 5 71,781,253 (GRCm39) missense probably benign 0.00
R6574:Gabra4 UTSW 5 71,781,268 (GRCm39) missense probably benign
R7068:Gabra4 UTSW 5 71,729,402 (GRCm39) missense probably benign 0.07
R7571:Gabra4 UTSW 5 71,729,335 (GRCm39) missense probably benign
R7815:Gabra4 UTSW 5 71,815,152 (GRCm39) start codon destroyed possibly damaging 0.54
R7817:Gabra4 UTSW 5 71,798,206 (GRCm39) missense probably damaging 1.00
R7840:Gabra4 UTSW 5 71,798,256 (GRCm39) splice site probably null
R7899:Gabra4 UTSW 5 71,815,338 (GRCm39) unclassified probably benign
R8000:Gabra4 UTSW 5 71,781,304 (GRCm39) missense probably damaging 1.00
R8057:Gabra4 UTSW 5 71,781,295 (GRCm39) missense probably benign 0.12
R8996:Gabra4 UTSW 5 71,729,046 (GRCm39) missense possibly damaging 0.51
R9623:Gabra4 UTSW 5 71,791,023 (GRCm39) missense probably damaging 1.00
R9682:Gabra4 UTSW 5 71,798,415 (GRCm39) missense possibly damaging 0.75
R9756:Gabra4 UTSW 5 71,729,067 (GRCm39) missense probably damaging 0.96
R9762:Gabra4 UTSW 5 71,814,463 (GRCm39) missense unknown
R9787:Gabra4 UTSW 5 71,791,004 (GRCm39) missense possibly damaging 0.92
Z1176:Gabra4 UTSW 5 71,781,238 (GRCm39) missense probably benign 0.40
Posted On 2015-04-16