Incidental Mutation 'R0726:Gabra6'
ID 218878
Institutional Source Beutler Lab
Gene Symbol Gabra6
Ensembl Gene ENSMUSG00000020428
Gene Name gamma-aminobutyric acid type A receptor subunit alpha 6
Synonyms alpha6, GABA-ARalpha6, Gabra-6
MMRRC Submission 038908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0726 (G1)
Quality Score 69
Status Validated
Chromosome 11
Chromosomal Location 42197264-42211899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 42205954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 301 (T301P)
Ref Sequence ENSEMBL: ENSMUSP00000126114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020703] [ENSMUST00000109286] [ENSMUST00000155218]
AlphaFold P16305
Predicted Effect possibly damaging
Transcript: ENSMUST00000020703
AA Change: T291P

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: T291P

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 possibly damaging
Transcript: ENSMUST00000109286
AA Change: T300P

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: T300P

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: T301P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: T301P

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
Meta Mutation Damage Score 0.6615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.1%
  • 20x: 89.2%
Validation Efficiency 98% (90/92)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A G 7: 143,425,498 (GRCm39) D49G probably damaging Het
Alg12 T C 15: 88,690,850 (GRCm39) Y256C probably damaging Het
Alox15 T A 11: 70,241,021 (GRCm39) D160V probably damaging Het
Aox1 T C 1: 58,373,941 (GRCm39) probably benign Het
Bbs9 G T 9: 22,705,119 (GRCm39) A729S probably damaging Het
Bltp3a T C 17: 28,104,463 (GRCm39) V503A possibly damaging Het
Bmp2k T A 5: 97,235,353 (GRCm39) probably benign Het
Braf C T 6: 39,639,082 (GRCm39) R223Q possibly damaging Het
Cd101 A T 3: 100,927,938 (GRCm39) S48T possibly damaging Het
Cdh9 T G 15: 16,831,130 (GRCm39) D322E probably benign Het
Col28a1 C T 6: 8,014,495 (GRCm39) probably null Het
Cpxm1 G A 2: 130,232,859 (GRCm39) R712W probably damaging Het
Csnk1g1 T C 9: 65,939,637 (GRCm39) probably benign Het
Cyp2d37-ps A C 15: 82,574,650 (GRCm39) noncoding transcript Het
Cyth3 T C 5: 143,678,397 (GRCm39) V115A probably benign Het
Dnah9 C T 11: 65,856,507 (GRCm39) V2885M probably damaging Het
Dock9 G T 14: 121,889,180 (GRCm39) Y326* probably null Het
Espl1 T C 15: 102,231,033 (GRCm39) I1844T probably benign Het
Fam20a T A 11: 109,568,020 (GRCm39) N357Y probably damaging Het
Fancc C A 13: 63,471,225 (GRCm39) R385L probably benign Het
Foxe3 A T 4: 114,782,447 (GRCm39) L255H unknown Het
Frem2 T C 3: 53,427,047 (GRCm39) D2967G possibly damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Grm4 T A 17: 27,657,412 (GRCm39) probably benign Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Kcnj9 G A 1: 172,153,488 (GRCm39) S212F probably damaging Het
Kif15 C A 9: 122,788,993 (GRCm39) H62N probably benign Het
Kptn A G 7: 15,854,647 (GRCm39) D106G probably damaging Het
Krtap13-1 T A 16: 88,526,192 (GRCm39) S139T probably damaging Het
Lepr C A 4: 101,622,131 (GRCm39) N354K probably benign Het
Lypd3 G T 7: 24,337,969 (GRCm39) E112* probably null Het
Med13l A T 5: 118,886,749 (GRCm39) N1550I probably damaging Het
Mettl2 C T 11: 105,017,670 (GRCm39) P60L probably benign Het
Mtcl2 G T 2: 156,902,182 (GRCm39) R278S probably damaging Het
Muc4 A G 16: 32,590,201 (GRCm39) E850G probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nek1 A G 8: 61,542,626 (GRCm39) R739G probably damaging Het
Nipbl A T 15: 8,381,039 (GRCm39) D584E probably benign Het
Nkain3 C T 4: 20,158,388 (GRCm39) V162M possibly damaging Het
Nmrk1 T C 19: 18,618,844 (GRCm39) probably benign Het
Nsd2 T C 5: 34,018,372 (GRCm39) probably benign Het
Or2n1b T C 17: 38,459,515 (GRCm39) F12S probably damaging Het
Or4b1 T A 2: 89,979,627 (GRCm39) H241L probably damaging Het
Or4p23 A T 2: 88,576,352 (GRCm39) N293K probably benign Het
Or5b24 T A 19: 12,912,969 (GRCm39) V289D probably damaging Het
Or8b44 T A 9: 38,410,418 (GRCm39) M151K possibly damaging Het
Otulinl A T 15: 27,657,033 (GRCm39) I338N probably damaging Het
Phex T A X: 156,155,557 (GRCm39) probably benign Het
Pip5k1b G T 19: 24,356,256 (GRCm39) D227E probably damaging Het
Prdm13 A G 4: 21,683,914 (GRCm39) I119T unknown Het
Rab19 G T 6: 39,360,893 (GRCm39) V14L probably benign Het
Rasa3 A G 8: 13,630,118 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,678,074 (GRCm39) S118N probably damaging Het
Rif1 C T 2: 52,000,365 (GRCm39) T1273M possibly damaging Het
Scn8a A G 15: 100,870,711 (GRCm39) N254S probably damaging Het
Sema6a T C 18: 47,425,048 (GRCm39) T188A probably damaging Het
Sh3pxd2a C T 19: 47,257,201 (GRCm39) E506K probably damaging Het
Smarca2 A T 19: 26,675,803 (GRCm39) K1014N probably damaging Het
Smarca4 T G 9: 21,611,435 (GRCm39) probably null Het
Sntb1 T C 15: 55,539,752 (GRCm39) R361G probably benign Het
Stx5a T A 19: 8,732,275 (GRCm39) I208N probably damaging Het
Tas2r102 T A 6: 132,739,415 (GRCm39) W108R probably damaging Het
Tcl1 A G 12: 105,184,929 (GRCm39) Y94H probably damaging Het
Tenm3 T A 8: 48,689,629 (GRCm39) Y1986F probably damaging Het
Tet2 G A 3: 133,173,945 (GRCm39) P1439L probably benign Het
Tiam2 T C 17: 3,563,108 (GRCm39) probably benign Het
Ubap2l G A 3: 89,928,553 (GRCm39) T526M probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ushbp1 T A 8: 71,841,391 (GRCm39) probably benign Het
Usp28 C T 9: 48,915,169 (GRCm39) R115C probably damaging Het
Vldlr A T 19: 27,215,786 (GRCm39) D261V probably damaging Het
Vmn2r5 C T 3: 64,411,186 (GRCm39) D461N probably benign Het
Vmn2r86 A T 10: 130,282,265 (GRCm39) F784I probably damaging Het
Zfp59 A T 7: 27,553,513 (GRCm39) I322F probably damaging Het
Zfp607a A T 7: 27,578,574 (GRCm39) H548L probably benign Het
Zfp626 G A 7: 27,518,048 (GRCm39) C343Y probably damaging Het
Other mutations in Gabra6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Gabra6 APN 11 42,207,850 (GRCm39) missense probably damaging 1.00
IGL01553:Gabra6 APN 11 42,206,023 (GRCm39) missense probably damaging 1.00
IGL01801:Gabra6 APN 11 42,205,935 (GRCm39) missense probably damaging 1.00
IGL02474:Gabra6 APN 11 42,198,244 (GRCm39) missense probably benign
IGL03027:Gabra6 APN 11 42,205,980 (GRCm39) missense probably damaging 1.00
IGL03111:Gabra6 APN 11 42,207,844 (GRCm39) missense probably damaging 1.00
R0121:Gabra6 UTSW 11 42,205,798 (GRCm39) missense probably benign
R0206:Gabra6 UTSW 11 42,207,906 (GRCm39) nonsense probably null
R0240:Gabra6 UTSW 11 42,205,774 (GRCm39) missense probably benign 0.01
R0745:Gabra6 UTSW 11 42,207,394 (GRCm39) missense probably damaging 0.99
R0751:Gabra6 UTSW 11 42,205,844 (GRCm39) missense probably benign 0.00
R0789:Gabra6 UTSW 11 42,205,844 (GRCm39) missense probably benign 0.00
R1666:Gabra6 UTSW 11 42,208,461 (GRCm39) missense probably damaging 1.00
R1754:Gabra6 UTSW 11 42,207,388 (GRCm39) missense probably damaging 1.00
R2317:Gabra6 UTSW 11 42,208,607 (GRCm39) critical splice acceptor site probably null
R3605:Gabra6 UTSW 11 42,205,777 (GRCm39) missense probably benign 0.00
R4647:Gabra6 UTSW 11 42,198,199 (GRCm39) missense probably damaging 1.00
R5566:Gabra6 UTSW 11 42,198,317 (GRCm39) missense probably benign
R5929:Gabra6 UTSW 11 42,208,389 (GRCm39) missense probably damaging 0.99
R5930:Gabra6 UTSW 11 42,198,268 (GRCm39) missense probably benign 0.28
R5931:Gabra6 UTSW 11 42,198,268 (GRCm39) missense probably benign 0.28
R6155:Gabra6 UTSW 11 42,207,350 (GRCm39) missense probably damaging 1.00
R7249:Gabra6 UTSW 11 42,208,259 (GRCm39) missense probably damaging 1.00
R7759:Gabra6 UTSW 11 42,208,508 (GRCm39) missense probably damaging 1.00
R7783:Gabra6 UTSW 11 42,207,289 (GRCm39) missense probably damaging 1.00
R7794:Gabra6 UTSW 11 42,211,868 (GRCm39) splice site probably null
R7869:Gabra6 UTSW 11 42,207,322 (GRCm39) missense possibly damaging 0.96
R7949:Gabra6 UTSW 11 42,207,826 (GRCm39) missense probably benign 0.07
R8199:Gabra6 UTSW 11 42,207,280 (GRCm39) missense probably damaging 1.00
R8692:Gabra6 UTSW 11 42,210,537 (GRCm39) missense probably damaging 1.00
R8954:Gabra6 UTSW 11 42,205,959 (GRCm39) missense probably damaging 1.00
R9076:Gabra6 UTSW 11 42,198,289 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGCCTGTGAAGTGAGAAGCAAC -3'
(R):5'- AGGCCAAGTGGTCCCTTACTAACC -3'

Sequencing Primer
(F):5'- CGACAAATACTGTTTGGGAATGC -3'
(R):5'- AAGTGGTCCCTTACTAACCTGTTC -3'
Posted On 2014-08-22