Mutagenetix > Incidental Mutation

Incidental Mutation 'R8692:Gabra6'

668452

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

068546-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8692 (G1)

Quality Score

130.008

Status

Not validated

Chromosome

Chromosomal Location

42197264-42211899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42210537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 61 (D61E)

Ref Sequence

ENSEMBL: ENSMUSP00000126114 (fasta)

Gene Model

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

AlphaFold

P16305

Predicted Effect

probably damaging
Transcript: ENSMUST00000020703
AA Change: D61E

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

SMART Domains

Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: D61E

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: D60E

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

SMART Domains

Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: D60E

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: D61E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: D61E

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,327,874 (GRCm39)	I1402S	probably damaging	Het
Abca9	T	C	11: 110,032,409 (GRCm39)	D736G	probably benign	Het
Acy1	T	C	9: 106,310,377 (GRCm39)	E377G	probably damaging	Het
Apob	G	A	12: 8,058,270 (GRCm39)	V2251M	probably damaging	Het
Arhgap23	C	A	11: 97,345,322 (GRCm39)	T657K	probably damaging	Het
Cabin1	T	C	10: 75,587,410 (GRCm39)	K129R	probably benign	Het
Cdh24	A	T	14: 54,875,793 (GRCm39)	F259I	probably benign	Het
Cops6	A	G	5: 138,162,083 (GRCm39)	N307S	probably benign	Het
Cyp4a31	G	A	4: 115,423,769 (GRCm39)	V143M	probably damaging	Het
Deaf1	A	T	7: 140,877,444 (GRCm39)	I561K	probably benign	Het
Dnah7a	A	C	1: 53,472,175 (GRCm39)	S3531A	probably benign	Het
Dnajc14	T	A	10: 128,642,900 (GRCm39)	I274N	probably damaging	Het
Dnmt1	A	G	9: 20,853,077 (GRCm39)	L48S	probably damaging	Het
Efna4	A	T	3: 89,242,549 (GRCm39)	I115N	probably damaging	Het
Ermp1	T	A	19: 29,594,093 (GRCm39)	L692F	probably benign	Het
Fcho2	GT	G	13: 98,882,382 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,615,722 (GRCm39)	C536S	probably benign	Het
Fermt2	A	T	14: 45,742,099 (GRCm39)	C82*	probably null	Het
Gdpd4	T	A	7: 97,690,140 (GRCm39)	S611T	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm17430	G	A	18: 9,726,336 (GRCm39)	A112V	probably benign	Het
Gm2381	A	T	7: 42,472,071 (GRCm39)	L2Q	probably damaging	Het
Hif3a	A	T	7: 16,788,701 (GRCm39)	L90Q	probably benign	Het
Irf3	C	T	7: 44,649,889 (GRCm39)	Q168*	probably null	Het
Krt82	T	G	15: 101,456,828 (GRCm39)	D184A	possibly damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrrc49	A	G	9: 60,594,445 (GRCm39)	S28P	probably damaging	Het
Mfsd11	T	A	11: 116,752,443 (GRCm39)	N197K	probably benign	Het
Mindy1	A	G	3: 95,199,587 (GRCm39)	D243G	probably damaging	Het
Mphosph9	A	T	5: 124,450,875 (GRCm39)	W299R	probably damaging	Het
Mst1r	G	T	9: 107,792,050 (GRCm39)	R862L	possibly damaging	Het
Nasp	T	A	4: 116,469,280 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,414,049 (GRCm39)	I1073T	probably damaging	Het
Nek2	A	T	1: 191,554,745 (GRCm39)	K152N	probably benign	Het
Neurod2	T	C	11: 98,218,960 (GRCm39)	E68G	probably benign	Het
Or1j4	A	T	2: 36,740,096 (GRCm39)	I13F	probably benign	Het
Or2w3b	T	C	11: 58,623,595 (GRCm39)	Y132C	probably damaging	Het
P4ha3	T	A	7: 99,955,228 (GRCm39)	I361N	probably damaging	Het
Pcdh15	T	A	10: 74,289,805 (GRCm39)	S875T	possibly damaging	Het
Pde7b	G	T	10: 20,423,639 (GRCm39)	P79Q	probably benign	Het
Phb2	G	A	6: 124,692,097 (GRCm39)	A228T	probably damaging	Het
Piezo2	A	T	18: 63,225,971 (GRCm39)	C888*	probably null	Het
Pkhd1	A	T	1: 20,462,374 (GRCm39)	L2060Q	probably damaging	Het
Pms1	T	C	1: 53,246,052 (GRCm39)	M496V	probably benign	Het
Ppfibp1	C	T	6: 146,892,013 (GRCm39)	T91I	probably benign	Het
Ppp1r9b	T	C	11: 94,891,077 (GRCm39)	L557P	probably damaging	Het
Ppp2r5c	G	T	12: 110,489,032 (GRCm39)	V68L	probably benign	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rasgrp1	G	A	2: 117,115,353 (GRCm39)	T745I	probably damaging	Het
Rnf144a	G	A	12: 26,370,972 (GRCm39)	T163I	probably benign	Het
Sbsn	A	T	7: 30,451,522 (GRCm39)	H179L	unknown	Het
Simc1	G	A	13: 54,673,193 (GRCm39)	V514I	probably benign	Het
Slc35d1	A	G	4: 103,047,051 (GRCm39)	M249T		Het
Slfn4	T	A	11: 83,079,709 (GRCm39)	H466Q	possibly damaging	Het
Stab2	A	T	10: 86,808,794 (GRCm39)	C172S	probably damaging	Het
Tanc1	T	C	2: 59,673,989 (GRCm39)	I1698T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tiam2	A	C	17: 3,479,082 (GRCm39)	D605A	probably damaging	Het
Tmed4	A	T	11: 6,223,822 (GRCm39)	D151E	probably benign	Het
Trim62	A	T	4: 128,794,465 (GRCm39)	I211F	possibly damaging	Het
Ttpa	A	G	4: 20,008,585 (GRCm39)	D49G	probably benign	Het
Usf3	T	C	16: 44,040,103 (GRCm39)	S1528P	probably benign	Het
Usp34	C	T	11: 23,379,325 (GRCm39)	T1991I		Het
Vash1	G	A	12: 86,735,863 (GRCm39)	V250M	possibly damaging	Het
Vmn1r199	T	C	13: 22,567,809 (GRCm39)	*368Q	probably null	Het
Vmn1r74	A	G	7: 11,580,972 (GRCm39)	T91A	probably benign	Het
Vmn1r8	T	C	6: 57,013,557 (GRCm39)	F203L	probably benign	Het
Vmn2r13	G	T	5: 109,319,514 (GRCm39)	Q489K	probably benign	Het
Vmn2r-ps158	G	T	7: 42,697,108 (GRCm39)	A722S	probably benign	Het
Zfp385b	A	T	2: 77,549,971 (GRCm39)	V38E	probably damaging	Het
Zfp820	A	G	17: 22,037,876 (GRCm39)	I484T	probably benign	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
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
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'- GCCAGTATCCTGCTTTAATGCAC -3'
(R):5'- TCCCCTGGTGTGAATAGAATG -3'

Sequencing Primer
(F):5'- GCACACGCATTTCTAGAAGTATTC -3'
(R):5'- AATTGGATGACTTTTCACAGTTGG -3'

Posted On

2021-04-30