Mutagenetix > Incidental Mutation

Incidental Mutation 'R8253:Gabra2'

640123

Institutional Source

Beutler Lab

Gene Symbol

Gabra2

Ensembl Gene

ENSMUSG00000000560

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 2

Synonyms

C630048P16Rik, Gabra-2

MMRRC Submission

067679-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71115735-71253192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71249413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 30 (I30T)

Ref Sequence

ENSEMBL: ENSMUSP00000142892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000572] [ENSMUST00000197284] [ENSMUST00000198625]

AlphaFold

P26048

Predicted Effect

probably damaging
Transcript: ENSMUST00000000572
AA Change: I30T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000572
Gene: ENSMUSG00000000560
AA Change: I30T

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Neur_chan_LBD	42	250	1.9e-51	PFAM
Pfam:Neur_chan_memb	257	344	1.2e-32	PFAM
low complexity region	364	375	N/A	INTRINSIC
low complexity region	392	410	N/A	INTRINSIC
transmembrane domain	423	440	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197284
AA Change: I30T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000142892
Gene: ENSMUSG00000000560
AA Change: I30T

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Neur_chan_LBD	42	250	2.7e-53	PFAM
Pfam:Neur_chan_memb	257	354	5.6e-38	PFAM
Pfam:Neur_chan_memb	343	437	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198625
AA Change: I30T

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143645
Gene: ENSMUSG00000000560
AA Change: I30T

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
SCOP:d1i9ba_	47	87	7e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,874,702 (GRCm39)	E493G	probably benign	Het
Akr1a1	A	T	4: 116,493,840 (GRCm39)	D313E	probably damaging	Het
Ap1m1	T	A	8: 73,006,730 (GRCm39)	V242E	probably damaging	Het
Atad2b	T	A	12: 5,024,159 (GRCm39)	S670T	possibly damaging	Het
Atad2b	C	T	12: 5,024,160 (GRCm39)	S670L	probably benign	Het
Atp23	C	T	10: 126,704,543 (GRCm39)	G197S	probably benign	Het
Avpr1b	A	T	1: 131,537,154 (GRCm39)	T313S	probably benign	Het
Cblc	A	G	7: 19,520,157 (GRCm39)	I362T	probably damaging	Het
Ccdc171	T	A	4: 83,661,207 (GRCm39)	S1106T	probably damaging	Het
Cimap3	T	C	3: 105,905,683 (GRCm39)	M193V	probably benign	Het
Csde1	C	A	3: 102,946,037 (GRCm39)	N10K	probably damaging	Het
Csnk2a2	T	C	8: 96,215,005 (GRCm39)	Y24C		Het
Cyb5r4	G	T	9: 86,941,108 (GRCm39)	L420F	probably damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dner	C	T	1: 84,512,598 (GRCm39)	G323E	probably damaging	Het
Elf1	T	C	14: 79,773,792 (GRCm39)	M1T	probably null	Het
Fam13c	T	C	10: 70,389,033 (GRCm39)	S520P	probably damaging	Het
Fhip1b	T	A	7: 105,028,294 (GRCm39)	H885L	possibly damaging	Het
Gm6793	T	A	8: 112,741,640 (GRCm39)	M1L	probably benign	Het
Inpp5a	T	C	7: 139,061,556 (GRCm39)	L76P	probably damaging	Het
Itih5	T	C	2: 10,243,406 (GRCm39)	I381T	probably benign	Het
Lyrm7	T	C	11: 54,741,227 (GRCm39)	I36V	probably null	Het
Magi2	A	G	5: 20,814,305 (GRCm39)	I906V	probably benign	Het
Mup5	C	T	4: 61,752,811 (GRCm39)	A71T	probably benign	Het
Ndufaf6	G	A	4: 11,059,086 (GRCm39)	R248W	probably damaging	Het
Or52z14	A	T	7: 103,253,538 (GRCm39)	I226L	possibly damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Palm	A	T	10: 79,643,511 (GRCm39)	K80*	probably null	Het
Pcyox1	C	T	6: 86,366,044 (GRCm39)	R390K	probably benign	Het
Pdx1	T	C	5: 147,207,459 (GRCm39)		probably null	Het
Pkp2	T	A	16: 16,086,406 (GRCm39)	V689D	probably damaging	Het
Prkar2a	G	T	9: 108,617,638 (GRCm39)	R232L	probably damaging	Het
Rasgrp4	C	T	7: 28,838,287 (GRCm39)	T87M	possibly damaging	Het
Ryr2	T	A	13: 11,842,439 (GRCm39)	Q486L	possibly damaging	Het
Shd	T	C	17: 56,283,295 (GRCm39)	V309A		Het
Skint7	C	T	4: 111,834,675 (GRCm39)	Q20*	probably null	Het
Slc35g1	C	A	19: 38,391,237 (GRCm39)	T173K	probably damaging	Het
Slit2	T	C	5: 48,433,013 (GRCm39)	F1073L	probably benign	Het
Snx18	T	A	13: 113,731,317 (GRCm39)	D559V	probably damaging	Het
Tbr1	G	T	2: 61,635,585 (GRCm39)	Q178H	probably benign	Het
Tmem145	T	G	7: 25,006,939 (GRCm39)	Y114D	probably damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Uba2	T	C	7: 33,850,323 (GRCm39)	M377V	probably damaging	Het
Vps13c	T	A	9: 67,850,770 (GRCm39)	Y2242*	probably null	Het
Xdh	T	G	17: 74,225,377 (GRCm39)	Q475P	possibly damaging	Het
Zbtb42	T	G	12: 112,646,746 (GRCm39)	L307R	probably damaging	Het

Other mutations in Gabra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Gabra2	APN	5	71,119,415 (GRCm39)	missense	probably benign
IGL01084:Gabra2	APN	5	71,163,576 (GRCm39)	missense	probably damaging	1.00
IGL01948:Gabra2	APN	5	71,119,228 (GRCm39)	missense	probably damaging	1.00
IGL01965:Gabra2	APN	5	71,165,418 (GRCm39)	splice site	probably benign
IGL03263:Gabra2	APN	5	71,130,836 (GRCm39)	missense	probably damaging	1.00
R0005:Gabra2	UTSW	5	71,130,779 (GRCm39)	missense	probably benign	0.00
R0751:Gabra2	UTSW	5	71,249,442 (GRCm39)	splice site	probably benign
R1025:Gabra2	UTSW	5	71,130,938 (GRCm39)	missense	probably damaging	1.00
R1713:Gabra2	UTSW	5	71,171,906 (GRCm39)	missense	probably benign	0.24
R1964:Gabra2	UTSW	5	71,171,793 (GRCm39)	missense	possibly damaging	0.91
R3861:Gabra2	UTSW	5	71,130,886 (GRCm39)	missense	probably damaging	1.00
R4190:Gabra2	UTSW	5	71,165,341 (GRCm39)	missense	probably benign	0.00
R4192:Gabra2	UTSW	5	71,165,341 (GRCm39)	missense	probably benign	0.00
R4193:Gabra2	UTSW	5	71,165,341 (GRCm39)	missense	probably benign	0.00
R6281:Gabra2	UTSW	5	71,192,105 (GRCm39)	missense	probably damaging	1.00
R6419:Gabra2	UTSW	5	71,119,426 (GRCm39)	missense	probably benign	0.00
R6814:Gabra2	UTSW	5	71,251,882 (GRCm39)	missense	probably damaging	1.00
R6872:Gabra2	UTSW	5	71,251,882 (GRCm39)	missense	probably damaging	1.00
R7922:Gabra2	UTSW	5	71,165,315 (GRCm39)	nonsense	probably null
R8679:Gabra2	UTSW	5	71,170,040 (GRCm39)	splice site	probably benign
R8953:Gabra2	UTSW	5	71,163,525 (GRCm39)	missense	probably damaging	1.00
R9593:Gabra2	UTSW	5	71,165,353 (GRCm39)	missense	possibly damaging	0.95
R9659:Gabra2	UTSW	5	71,192,140 (GRCm39)	missense	probably benign	0.00
R9788:Gabra2	UTSW	5	71,192,140 (GRCm39)	missense	probably benign	0.00
Z1177:Gabra2	UTSW	5	71,165,335 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- ATAGAGTGCATTAAGATGAGCACC -3'
(R):5'- TGAAACAGAATACTTACCTTCCCAG -3'

Sequencing Primer
(F):5'- GAGTGCATTAAGATGAGCACCTTACC -3'
(R):5'- ACCTTCCCAGCAAGTTTAGTG -3'

Posted On

2020-07-28