Incidental Mutation 'R4361:Gabra4'
ID 324902
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 041112-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4361 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 71727092-71815651 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 71790888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031121] [ENSMUST00000197994] [ENSMUST00000198138] [ENSMUST00000199357]
AlphaFold Q9D6F4
Predicted Effect probably null
Transcript: ENSMUST00000031121
SMART Domains Protein: ENSMUSP00000031121
Gene: ENSMUSG00000029211

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 probably benign
Transcript: ENSMUST00000198138
SMART Domains Protein: ENSMUSP00000142466
Gene: ENSMUSG00000029211

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SCOP:d1i9ba_ 53 69 3e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000199357
SMART Domains Protein: ENSMUSP00000143675
Gene: ENSMUSG00000029211

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
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (61/61)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,688 (GRCm39) T538A probably damaging Het
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Aadac T A 3: 59,947,182 (GRCm39) S293R probably benign Het
Cc2d1b G A 4: 108,481,947 (GRCm39) probably benign Het
Ccdc157 C T 11: 4,096,550 (GRCm39) A400T probably damaging Het
Cdc42ep5 A G 7: 4,154,779 (GRCm39) V3A possibly damaging Het
Cyp11b1 T A 15: 74,710,865 (GRCm39) M232L possibly damaging Het
Dhrs2 G A 14: 55,478,646 (GRCm39) D264N probably damaging Het
Dram2 T C 3: 106,473,531 (GRCm39) probably benign Het
Dtx4 C A 19: 12,462,660 (GRCm39) S373I probably benign Het
Eif4a1 G A 11: 69,558,290 (GRCm39) probably benign Het
Eps15 T C 4: 109,237,228 (GRCm39) probably null Het
Fam135b T A 15: 71,362,676 (GRCm39) Q235L probably damaging Het
Fgfr3 T C 5: 33,880,676 (GRCm39) probably benign Het
Gins1 A G 2: 150,767,821 (GRCm39) Y117C probably damaging Het
Gm12253 T A 11: 58,325,687 (GRCm39) S53T probably benign Het
Gne C A 4: 44,059,947 (GRCm39) A149S possibly damaging Het
Gpc2 A T 5: 138,276,552 (GRCm39) C191* probably null Het
Has2 G T 15: 56,545,344 (GRCm39) A86E probably damaging Het
Ift80 A T 3: 68,870,982 (GRCm39) S205T probably damaging Het
Irx5 G T 8: 93,085,025 (GRCm39) A72S probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kcnt1 A T 2: 25,768,044 (GRCm39) Q51L probably benign Het
Klk1b11 A G 7: 43,645,378 (GRCm39) probably null Het
Kmt2d T G 15: 98,761,551 (GRCm39) M600L unknown Het
Lmtk2 T A 5: 144,084,482 (GRCm39) S172R probably damaging Het
Lrrc37 CTTTT CTTTTT 11: 103,508,327 (GRCm39) probably null Het
Lrrc46 G A 11: 96,925,496 (GRCm39) probably benign Het
Mab21l2 C T 3: 86,454,497 (GRCm39) V168M probably damaging Het
Magea3 A C X: 153,731,850 (GRCm39) C218G possibly damaging Het
Magea3 C A X: 153,731,849 (GRCm39) C218F probably benign Het
Man1a2 T C 3: 100,563,358 (GRCm39) K96E probably benign Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Myf6 GGGGGCAG GG 10: 107,330,293 (GRCm39) probably benign Het
Myom2 G A 8: 15,162,018 (GRCm39) V984I possibly damaging Het
Nav1 G A 1: 135,535,175 (GRCm39) probably benign Het
Nav3 T C 10: 109,688,847 (GRCm39) K477E probably damaging Het
Nup98 T A 7: 101,794,921 (GRCm39) H862L probably damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcnx2 G T 8: 126,495,037 (GRCm39) S1608* probably null Het
Pramel16 A G 4: 143,677,433 (GRCm39) F49L possibly damaging Het
Ren1 A G 1: 133,286,779 (GRCm39) I303V probably benign Het
Retreg3 T A 11: 100,994,713 (GRCm39) probably null Het
Rnf6 C A 5: 146,148,089 (GRCm39) V310F probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scrn2 C T 11: 96,923,064 (GRCm39) A169V probably null Het
Slc4a10 T C 2: 62,073,729 (GRCm39) S264P probably benign Het
Tex26 A T 5: 149,384,388 (GRCm39) Q102L probably benign Het
Tex38 A G 4: 115,637,420 (GRCm39) S128P probably benign Het
Trmt1l A G 1: 151,311,626 (GRCm39) probably benign Het
Tyr G T 7: 87,078,284 (GRCm39) H525Q probably benign Het
Veph1 T C 3: 66,066,737 (GRCm39) N417S probably benign Het
Zfp597 A T 16: 3,683,764 (GRCm39) S331T 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
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
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'- AGAAGGGACAGACTGCCCTATC -3'
(R):5'- GCAATTCTCAGTGAAATATGCATGG -3'

Sequencing Primer
(F):5'- TATCTCCCCATGCAGCGGTG -3'
(R):5'- GCCTACAGTACCAGTAATCTATTTTC -3'
Posted On 2015-07-06