Incidental Mutation 'R3884:Gabra4'
ID 310583
Institutional Source Beutler Lab
Gene Symbol Gabra4
Ensembl Gene ENSMUSG00000029211
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 4
Synonyms Gabra-4
MMRRC Submission 040797-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3884 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 71727092-71815651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71814600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Ref Sequence ENSEMBL: ENSMUSP00000142466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031121] [ENSMUST00000197994] [ENSMUST00000198138] [ENSMUST00000199357] [ENSMUST00000199967]
AlphaFold Q9D6F4
Predicted Effect probably benign
Transcript: ENSMUST00000031121
AA Change: D40G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211
AA Change: D40G

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 silent
Transcript: ENSMUST00000197994
Predicted Effect probably benign
Transcript: ENSMUST00000198138
AA Change: D40G

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142466
Gene: ENSMUSG00000029211
AA Change: D40G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SCOP:d1i9ba_ 53 69 3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199150
Predicted Effect probably benign
Transcript: ENSMUST00000199357
AA Change: D40G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211
AA Change: D40G

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
Predicted Effect probably benign
Transcript: ENSMUST00000199967
SMART Domains Protein: ENSMUSP00000143682
Gene: ENSMUSG00000029212

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 4 210 4.8e-51 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 G A 15: 98,495,055 (GRCm39) S719F probably benign Het
Als2 A G 1: 59,224,727 (GRCm39) V998A probably damaging Het
Ankmy1 T G 1: 92,813,874 (GRCm39) E435A probably damaging Het
Ankrd52 A G 10: 128,224,824 (GRCm39) E820G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp6v0d2 T A 4: 19,910,677 (GRCm39) D71V probably damaging Het
C3 T C 17: 57,524,173 (GRCm39) probably null Het
Cnot7 A T 8: 40,963,171 (GRCm39) M1K probably null Het
Cntn2 A G 1: 132,456,677 (GRCm39) V123A probably damaging Het
Depdc5 G A 5: 33,101,421 (GRCm39) E904K probably damaging Het
Dip2c G T 13: 9,601,894 (GRCm39) L284F probably damaging Het
Epb41l3 C T 17: 69,581,111 (GRCm39) R552* probably null Het
Gm9925 T C 18: 74,198,399 (GRCm39) probably benign Het
Igf2r T A 17: 12,928,355 (GRCm39) Q996L probably benign Het
Klk1b16 T C 7: 43,788,887 (GRCm39) V40A possibly damaging Het
Lin9 G T 1: 180,515,630 (GRCm39) G427* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Lyg2 C G 1: 37,949,150 (GRCm39) A71P probably damaging Het
Mycbp2 A C 14: 103,532,686 (GRCm39) L390V probably damaging Het
Myl3 A G 9: 110,597,027 (GRCm39) H129R probably damaging Het
Naa16 T C 14: 79,580,702 (GRCm39) K604R probably damaging Het
Nedd4 C T 9: 72,632,359 (GRCm39) P398S probably benign Het
Neurl1a T C 19: 47,241,885 (GRCm39) V309A probably benign Het
Or10a2 A T 7: 106,673,110 (GRCm39) Q25L possibly damaging Het
Or6c210 T C 10: 129,496,407 (GRCm39) V244A probably damaging Het
Pacs1 T C 19: 5,205,787 (GRCm39) Y301C probably damaging Het
Parl A T 16: 20,101,762 (GRCm39) M90K probably damaging Het
Plxnc1 A T 10: 94,746,549 (GRCm39) probably null Het
Prkd2 C A 7: 16,587,180 (GRCm39) S375R probably benign Het
Prss44 T C 9: 110,643,764 (GRCm39) I136T possibly damaging Het
Rock1 G A 18: 10,122,768 (GRCm39) T351I probably damaging Het
Selenon T C 4: 134,267,081 (GRCm39) N507S possibly damaging Het
Slc38a7 C T 8: 96,572,809 (GRCm39) G141R probably damaging Het
Trpm4 C T 7: 44,971,422 (GRCm39) probably null Het
Ttn T A 2: 76,560,705 (GRCm39) N27486I probably damaging Het
Xylb T C 9: 119,209,753 (GRCm39) M346T probably damaging Het
Zbtb17 T C 4: 141,191,886 (GRCm39) F306L probably 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
IGL02688:Gabra4 APN 5 71,729,510 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCTCGAGAGAATGACTGGTTTTC -3'
(R):5'- GCTGCCTAAAGGGTACTTGC -3'

Sequencing Primer
(F):5'- TCATTTTTGCACGTGAGGC -3'
(R):5'- CCTAAAGGGTACTTGCAGTCTG -3'
Posted On 2015-04-17