Incidental Mutation 'R7783:Gabra6'
ID599391
Institutional Source Beutler Lab
Gene Symbol Gabra6
Ensembl Gene ENSMUSG00000020428
Gene Namegamma-aminobutyric acid (GABA) A receptor, subunit alpha 6
SynonymsGabra-6, alpha6, GABA-ARalpha6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7783 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location42306437-42321072 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 42316462 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 265 (N265S)
Ref Sequence ENSEMBL: ENSMUSP00000126114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020703] [ENSMUST00000109286] [ENSMUST00000155218]
Predicted Effect probably damaging
Transcript: ENSMUST00000020703
AA Change: N255S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: N255S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Neur_chan_LBD 32 230 2.4e-43 PFAM
Pfam:Neur_chan_memb 237 378 9.3e-43 PFAM
transmembrane domain 413 430 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109286
AA Change: N264S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: N264S

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 31 239 2.4e-53 PFAM
Pfam:Neur_chan_memb 246 387 9.7e-43 PFAM
transmembrane domain 422 439 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155218
AA Change: N265S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: N265S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Neur_chan_LBD 32 240 2e-51 PFAM
Pfam:Neur_chan_memb 247 393 6.3e-35 PFAM
transmembrane domain 423 440 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal cerebellar cytoarchitecture and normal responses to ethanol, pentobarbital and general anesthetics. Mice homozygous for a reporter allele are behaviorally normal and lack a cochlear phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,078,812 Y447* probably null Het
Abl2 T C 1: 156,559,071 V8A probably benign Het
Adam33 C T 2: 131,058,337 R103K unknown Het
Adamts13 G T 2: 26,990,585 A727S not run Het
Alpk2 A T 18: 65,306,254 C689* probably null Het
Amt C T 9: 108,297,215 Q60* probably null Het
Ankrd12 A G 17: 66,027,250 probably null Het
Ankrd28 A T 14: 31,706,813 N920K probably damaging Het
Ankrd36 T C 11: 5,635,359 L390P probably damaging Het
Arvcf T G 16: 18,389,198 H7Q probably benign Het
Asns A G 6: 7,677,978 S367P probably damaging Het
BC005537 C T 13: 24,803,399 R7W possibly damaging Het
C7 T A 15: 5,007,710 H562L probably benign Het
Ccdc77 T C 6: 120,350,373 D37G probably damaging Het
Cdc14a C T 3: 116,404,587 A58T probably damaging Het
Cdc42bpb C T 12: 111,336,025 probably null Het
Corin A T 5: 72,301,624 F1068L probably benign Het
Epb42 T G 2: 121,034,435 K58N probably benign Het
Ercc3 T A 18: 32,248,243 S371T probably damaging Het
Fam193a A C 5: 34,431,180 K358Q probably damaging Het
Fem1a G A 17: 56,257,522 C205Y probably benign Het
Fh1 G A 1: 175,612,178 T233M probably damaging Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,252,551 probably benign Het
Gm10801 C CGTG 2: 98,663,807 probably null Het
Gm996 A T 2: 25,577,808 L697Q probably damaging Het
Grm6 T A 11: 50,863,082 C738S probably damaging Het
Gtsf1 C T 15: 103,428,569 probably benign Het
Hcrtr2 T A 9: 76,232,914 Y364F probably damaging Het
Ick G T 9: 78,135,645 V51F probably damaging Het
Ifit1bl1 T C 19: 34,593,936 I374V probably benign Het
Il31ra A T 13: 112,541,251 F250L probably benign Het
Iqgap1 A G 7: 80,809,059 V37A probably benign Het
Izumo3 A T 4: 92,145,023 I182K probably damaging Het
Kidins220 G A 12: 24,988,556 A36T probably damaging Het
Lrrtm1 G T 6: 77,244,253 R231L probably damaging Het
Micalcl A T 7: 112,412,976 S678C probably damaging Het
Mme T G 3: 63,364,867 F629C probably damaging Het
Muc5b T A 7: 141,857,341 H1341Q unknown Het
Olfr1339 T A 4: 118,734,902 D124E probably damaging Het
Olfr1391 A G 11: 49,328,202 S264G probably benign Het
Olfr495 A G 7: 108,396,089 H323R probably benign Het
Olfr513 A T 7: 108,755,569 T238S probably damaging Het
Olfr61 A G 7: 140,637,724 T8A possibly damaging Het
Parm1 A T 5: 91,593,865 M31L probably benign Het
Pcdhb18 G A 18: 37,489,821 C68Y probably benign Het
Pkn3 A T 2: 30,079,622 E35V probably damaging Het
Pla2g4a A T 1: 149,872,744 Y238N probably damaging Het
Pld6 T C 11: 59,787,271 D122G probably damaging Het
Prag1 G T 8: 36,103,255 A331S possibly damaging Het
Rbm44 A G 1: 91,168,829 D970G probably benign Het
Rps6kc1 A G 1: 190,773,654 V1037A probably benign Het
Slc12a7 T C 13: 73,805,469 V766A probably benign Het
Spata18 A G 5: 73,668,610 T87A Het
St3gal3 T C 4: 117,940,123 M308V probably benign Het
Stx19 T C 16: 62,822,286 L155S probably benign Het
Tespa1 A T 10: 130,356,883 T145S probably damaging Het
Timm21 A C 18: 84,947,721 F221V possibly damaging Het
Tlr1 A T 5: 64,924,921 F771Y probably damaging Het
Tmem150a C A 6: 72,358,623 L125I unknown Het
Try4 T C 6: 41,302,295 L4P possibly damaging Het
Txlna C T 4: 129,632,157 R299H probably damaging Het
Txndc16 A T 14: 45,144,960 N609K probably benign Het
Upf1 T C 8: 70,352,858 T46A probably benign Het
Zfp266 T C 9: 20,500,330 N184D probably benign Het
Zfp407 A G 18: 84,209,922 V1854A possibly damaging Het
Zfp626 T A 7: 27,818,370 C259S possibly damaging Het
Other mutations in Gabra6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Gabra6 APN 11 42317023 missense probably damaging 1.00
IGL01553:Gabra6 APN 11 42315196 missense probably damaging 1.00
IGL01801:Gabra6 APN 11 42315108 missense probably damaging 1.00
IGL02474:Gabra6 APN 11 42307417 missense probably benign
IGL03027:Gabra6 APN 11 42315153 missense probably damaging 1.00
IGL03111:Gabra6 APN 11 42317017 missense probably damaging 1.00
R0121:Gabra6 UTSW 11 42314971 missense probably benign
R0206:Gabra6 UTSW 11 42317079 nonsense probably null
R0240:Gabra6 UTSW 11 42314947 missense probably benign 0.01
R0726:Gabra6 UTSW 11 42315127 missense probably damaging 0.98
R0745:Gabra6 UTSW 11 42316567 missense probably damaging 0.99
R0751:Gabra6 UTSW 11 42315017 missense probably benign 0.00
R0789:Gabra6 UTSW 11 42315017 missense probably benign 0.00
R1666:Gabra6 UTSW 11 42317634 missense probably damaging 1.00
R1754:Gabra6 UTSW 11 42316561 missense probably damaging 1.00
R2317:Gabra6 UTSW 11 42317780 critical splice acceptor site probably null
R3605:Gabra6 UTSW 11 42314950 missense probably benign 0.00
R4647:Gabra6 UTSW 11 42307372 missense probably damaging 1.00
R5566:Gabra6 UTSW 11 42307490 missense probably benign
R5929:Gabra6 UTSW 11 42317562 missense probably damaging 0.99
R5930:Gabra6 UTSW 11 42307441 missense probably benign 0.28
R5931:Gabra6 UTSW 11 42307441 missense probably benign 0.28
R6155:Gabra6 UTSW 11 42316523 missense probably damaging 1.00
R7249:Gabra6 UTSW 11 42317432 missense probably damaging 1.00
R7759:Gabra6 UTSW 11 42317681 missense probably damaging 1.00
R7869:Gabra6 UTSW 11 42316495 missense possibly damaging 0.96
R7952:Gabra6 UTSW 11 42316495 missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGCACTGCTAACTAAGACACTTATG -3'
(R):5'- CTAACTGGTATGTGTCTTTACATCC -3'

Sequencing Primer
(F):5'- TTCACCATACAACTTGCAAAAAGATG -3'
(R):5'- CTGGTATGTGTCTTTACATCCAATTG -3'
Posted On2019-11-26