Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03027:Gabra6'

408245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gabra6

Ensembl Gene

ENSMUSG00000020428

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 6

Synonyms

alpha6, GABA-ARalpha6, Gabra-6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03027

Quality Score

Status

Chromosome

Chromosomal Location

42197264-42211899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42205980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 291 (H291R)

Ref Sequence

ENSEMBL: ENSMUSP00000104909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020703] [ENSMUST00000109286] [ENSMUST00000155218]

AlphaFold

P16305

Predicted Effect

probably damaging
Transcript: ENSMUST00000020703
AA Change: H282R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: H282R

Domain	Start	End	E-Value	Type
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: H291R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: H291R

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000155218
AA Change: H292R

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: H292R

Domain	Start	End	E-Value	Type
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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	A	T	17: 43,607,605 (GRCm39)	Y108F	probably damaging	Het
Afap1	T	C	5: 36,119,094 (GRCm39)	I243T	probably benign	Het
Ano5	A	G	7: 51,216,025 (GRCm39)	D320G	probably damaging	Het
Arhgef1	T	A	7: 24,623,157 (GRCm39)	I423K	probably damaging	Het
Casp9	A	G	4: 141,539,584 (GRCm39)	E410G	probably benign	Het
Ccdc39	A	C	3: 33,884,267 (GRCm39)	H358Q	probably benign	Het
Ces5a	A	T	8: 94,249,742 (GRCm39)		probably null	Het
Clip1	A	T	5: 123,759,919 (GRCm39)	M935K	probably benign	Het
Col12a1	A	G	9: 79,548,833 (GRCm39)	Y2171H	probably benign	Het
Cyp2f2	A	T	7: 26,831,996 (GRCm39)	N417I	possibly damaging	Het
Dock3	G	A	9: 106,870,677 (GRCm39)	P579L	probably damaging	Het
Dock7	T	C	4: 98,866,164 (GRCm39)	M1209V	probably benign	Het
Dock7	T	C	4: 98,958,450 (GRCm39)	T334A	possibly damaging	Het
Dst	A	T	1: 34,225,106 (GRCm39)	I1171F	possibly damaging	Het
Eya1	G	T	1: 14,241,190 (GRCm39)	H576N	probably damaging	Het
Fam117a	A	G	11: 95,268,399 (GRCm39)	T267A	probably benign	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gm7145	T	C	1: 117,895,417 (GRCm39)	S27P	probably benign	Het
Gpt	C	T	15: 76,582,289 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
Hif1a	C	T	12: 73,987,251 (GRCm39)	P448L	probably benign	Het
Hmcn1	C	T	1: 150,684,290 (GRCm39)	V427I	probably benign	Het
Ipo8	C	A	6: 148,678,737 (GRCm39)	V954L	probably benign	Het
Kdm5a	G	T	6: 120,351,951 (GRCm39)		probably null	Het
Klhl36	T	A	8: 120,603,229 (GRCm39)	S495T	probably benign	Het
Lpar5	T	A	6: 125,059,203 (GRCm39)	L308Q	probably damaging	Het
Lrp2	T	G	2: 69,367,897 (GRCm39)	D205A	probably benign	Het
Lrriq1	A	G	10: 103,063,057 (GRCm39)	I83T	probably benign	Het
Mapk8ip2	A	T	15: 89,342,310 (GRCm39)	D507V	probably damaging	Het
Mical1	T	C	10: 41,355,501 (GRCm39)		probably benign	Het
Myef2	T	A	2: 124,930,954 (GRCm39)	H539L	possibly damaging	Het
Myh7	T	C	14: 55,221,007 (GRCm39)	E972G	probably damaging	Het
Naip5	A	G	13: 100,359,524 (GRCm39)	Y571H	probably benign	Het
Nfasc	T	A	1: 132,538,207 (GRCm39)	N478I	probably damaging	Het
Or6c1b	A	G	10: 129,272,780 (GRCm39)	Y33C	probably damaging	Het
Pde2a	A	T	7: 101,130,627 (GRCm39)	Q89L	probably benign	Het
Ppard	C	A	17: 28,518,765 (GRCm39)	T422K	possibly damaging	Het
Ppp1r13b	G	T	12: 111,796,830 (GRCm39)	Y904*	probably null	Het
Ptx4	T	A	17: 25,344,022 (GRCm39)	I424K	possibly damaging	Het
Rab19	A	G	6: 39,360,927 (GRCm39)	D25G	probably damaging	Het
Rbl2	T	A	8: 91,805,534 (GRCm39)	I197N	possibly damaging	Het
Rttn	A	G	18: 88,997,814 (GRCm39)	D273G	probably damaging	Het
Sec16a	G	A	2: 26,313,601 (GRCm39)	R1920C	probably benign	Het
Sec23b	A	T	2: 144,429,465 (GRCm39)	N731I	possibly damaging	Het
Serpinb9d	G	A	13: 33,386,698 (GRCm39)	W255*	probably null	Het
Sim2	G	A	16: 93,910,351 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,920,167 (GRCm39)		probably null	Het
Tmem176b	C	T	6: 48,812,573 (GRCm39)	A131T	probably damaging	Het
Tmem181a	T	A	17: 6,348,494 (GRCm39)	V332D	probably damaging	Het
Trgc1	G	T	13: 19,398,563 (GRCm39)	G97*	probably null	Het
Tuba3b	T	A	6: 145,565,117 (GRCm39)	L195Q	probably damaging	Het
Ubc	A	T	5: 125,464,565 (GRCm39)	V254D	probably damaging	Het
Ube4b	G	T	4: 149,465,734 (GRCm39)	P239T	probably damaging	Het
Vars1	G	T	17: 35,232,663 (GRCm39)	M862I	probably damaging	Het
Vmn2r66	T	C	7: 84,644,777 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,188,824 (GRCm39)	A720V	probably damaging	Het
Zfhx3	G	A	8: 109,519,820 (GRCm39)	R314Q	probably damaging	Het

Other mutations in Gabra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R0726:Gabra6	UTSW	11	42,205,954 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2016-08-02