Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Gabra6'

460106

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

044124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42197264-42211899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42208389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 148 (M148L)

Ref Sequence

ENSEMBL: ENSMUSP00000126114 (fasta)

Gene Model

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

AlphaFold

P16305

Predicted Effect

probably benign
Transcript: ENSMUST00000020703
AA Change: M138L

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: M138L

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: M147L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: M147L

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

probably damaging
Transcript: ENSMUST00000155218
AA Change: M148L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: M148L

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

Meta Mutation Damage Score

0.1663

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

99% (84/85)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	C	T	14: 52,001,708 (GRCm39)	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,819,633 (GRCm39)	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,095,277 (GRCm39)	E137G	possibly damaging	Het
Car6	T	C	4: 150,280,592 (GRCm39)	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993 (GRCm39)	L463Q	probably damaging	Het
Casz1	T	A	4: 149,023,426 (GRCm39)	L491Q	probably damaging	Het
Casz1	C	T	4: 149,023,153 (GRCm39)	S400L	probably damaging	Het
Catsperd	A	T	17: 56,959,493 (GRCm39)	H311L	probably benign	Het
Ccdc83	A	G	7: 89,885,524 (GRCm39)		probably benign	Het
Cd163	G	A	6: 124,303,568 (GRCm39)		probably null	Het
Cd244a	A	T	1: 171,386,935 (GRCm39)	R15W	probably damaging	Het
Ces3b	A	G	8: 105,819,797 (GRCm39)	K490R	probably damaging	Het
Chordc1	T	C	9: 18,215,658 (GRCm39)	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,266,788 (GRCm39)	T1140S	probably benign	Het
Col6a4	T	C	9: 105,940,243 (GRCm39)	E1229G	probably benign	Het
Cr2	A	G	1: 194,853,419 (GRCm39)	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,007,048 (GRCm39)	H327Q	possibly damaging	Het
Depdc5	G	T	5: 33,132,850 (GRCm39)	E646*	probably null	Het
Dnah5	G	A	15: 28,311,353 (GRCm39)	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,354 (GRCm39)	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,601,019 (GRCm39)	Y39H	probably damaging	Het
Dsp	A	T	13: 38,379,410 (GRCm39)	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,427,457 (GRCm39)	W447R	probably damaging	Het
Gcfc2	T	A	6: 81,923,580 (GRCm39)	V32D	probably damaging	Het
Ginm1	G	T	10: 7,649,814 (GRCm39)	L160I	probably benign	Het
Gm19345	A	G	7: 19,591,747 (GRCm39)	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,204,011 (GRCm39)	R268*	probably null	Het
Hacl1	T	A	14: 31,338,345 (GRCm39)	M411L	probably benign	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,453,047 (GRCm39)	E5423*	probably null	Het
Ipo4	T	C	14: 55,868,646 (GRCm39)	H454R	probably benign	Het
Itpr1	A	T	6: 108,400,297 (GRCm39)	I1693F	probably benign	Het
Kif12	T	C	4: 63,086,754 (GRCm39)	T361A	probably damaging	Het
Kif21b	A	G	1: 136,078,945 (GRCm39)	E431G	probably damaging	Het
Kif27	C	T	13: 58,491,784 (GRCm39)	A452T	probably benign	Het
Kifbp	A	T	10: 62,395,181 (GRCm39)	I487N	probably damaging	Het
Lhcgr	A	T	17: 89,050,436 (GRCm39)	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,960,472 (GRCm39)	K294I	probably damaging	Het
Mapk3	A	C	7: 126,359,030 (GRCm39)		probably benign	Het
Mogat1	A	T	1: 78,500,370 (GRCm39)	I145F	probably benign	Het
Mtmr7	T	C	8: 41,011,399 (GRCm39)		probably null	Het
Ndufaf6	T	C	4: 11,051,150 (GRCm39)	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,718,185 (GRCm39)	Q117K	probably damaging	Het
Odad3	T	C	9: 21,913,718 (GRCm39)	E18G	possibly damaging	Het
Olfm3	T	G	3: 114,895,529 (GRCm39)	I137S	probably damaging	Het
Or4f7d-ps1	T	A	2: 111,674,631 (GRCm39)		noncoding transcript	Het
Otub1	G	A	19: 7,177,350 (GRCm39)	S99F	probably damaging	Het
Padi2	T	G	4: 140,671,848 (GRCm39)		probably null	Het
Paip1	C	T	13: 119,582,326 (GRCm39)	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,158,276 (GRCm39)	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phkb	A	G	8: 86,697,543 (GRCm39)	I451V	probably benign	Het
Plcg1	T	A	2: 160,595,522 (GRCm39)		probably null	Het
Prg4	A	G	1: 150,329,880 (GRCm39)	F722S	probably benign	Het
Prss3	T	C	6: 41,353,738 (GRCm39)		probably null	Het
Psmd3	C	T	11: 98,586,422 (GRCm39)	P530L	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sema3f	T	C	9: 107,569,392 (GRCm39)	Y82C	probably damaging	Het
Shoc1	G	T	4: 59,092,497 (GRCm39)	S228*	probably null	Het
Slc35b2	G	T	17: 45,877,587 (GRCm39)	W238L	probably benign	Het
Sox12	T	C	2: 152,239,308 (GRCm39)	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Tlr7	C	A	X: 166,089,878 (GRCm39)	G536V	probably damaging	Het
Tspan12	A	G	6: 21,772,746 (GRCm39)	S220P	possibly damaging	Het
Utp11	T	C	4: 124,576,036 (GRCm39)	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,990,949 (GRCm39)	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,001,920 (GRCm39)	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,813,282 (GRCm39)	F548I	probably damaging	Het
Zup1	A	T	10: 33,825,043 (GRCm39)	Y146*	probably null	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
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
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
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'- AGTCTGCAGCTGGAATCAAG -3'
(R):5'- CTGAAATTTAAAGGCCCTGCTG -3'

Sequencing Primer
(F):5'- TCTGCAGCTGGAATCAAGTAAGTAC -3'
(R):5'- TAAAGGCCCTGCTGAGATTC -3'

Posted On

2017-02-28