Mutagenetix > Incidental Mutation

Incidental Mutation 'R9027:Gabrg3'

686799

Institutional Source

Beutler Lab

Gene Symbol

Gabrg3

Ensembl Gene

ENSMUSG00000055026

Gene Name

gamma-aminobutyric acid type A receptor, subunit gamma 3

Synonyms

Gabrg-3, B230362M20Rik

MMRRC Submission

068856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56366213-57036936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56423122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 192 (Y192F)

Ref Sequence

ENSEMBL: ENSMUSP00000067632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068911]

AlphaFold

P27681

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068911
AA Change: Y192F

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: Y192F

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Neur_chan_LBD	47	253	2.9e-51	PFAM
Pfam:Neur_chan_memb	260	461	1.4e-39	PFAM

Coding Region Coverage

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

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	C	A	5: 121,640,788 (GRCm39)	E86*	probably null	Het
Ahnak	T	G	19: 8,984,617 (GRCm39)	I1967S	possibly damaging	Het
Alox12e	A	G	11: 70,212,600 (GRCm39)	V83A	possibly damaging	Het
Arhgap20	A	T	9: 51,754,977 (GRCm39)	R439S	probably damaging	Het
Arl1	A	G	10: 88,569,458 (GRCm39)	I20V	probably damaging	Het
Atad2	T	C	15: 57,995,628 (GRCm39)	D93G	probably benign	Het
Btbd7	T	G	12: 102,804,838 (GRCm39)	K67N	probably damaging	Het
C130050O18Rik	A	G	5: 139,400,301 (GRCm39)	N118S	probably benign	Het
Ccz1	A	C	5: 143,946,120 (GRCm39)		probably benign	Het
Cdk19	A	G	10: 40,355,728 (GRCm39)	S479G	unknown	Het
Chrd	A	G	16: 20,555,737 (GRCm39)	T503A	probably damaging	Het
Clca4b	G	A	3: 144,617,827 (GRCm39)	R759*	probably null	Het
Cpa5	G	T	6: 30,612,604 (GRCm39)	M1I	probably null	Het
Cr2	A	T	1: 194,834,029 (GRCm39)	I920N	probably benign	Het
Crmp1	C	A	5: 37,437,947 (GRCm39)	Y430*	probably null	Het
Dars1	A	T	1: 128,296,163 (GRCm39)	V390D	possibly damaging	Het
Dmtn	A	G	14: 70,853,555 (GRCm39)	S85P	probably damaging	Het
Ermardl1	A	G	17: 15,242,364 (GRCm39)	E416G	unknown	Het
Fancm	C	A	12: 65,122,605 (GRCm39)	D42E	probably damaging	Het
Gpr3	A	T	4: 132,938,209 (GRCm39)	Y154*	probably null	Het
Huwe1	G	A	X: 150,716,084 (GRCm39)	R4331Q	unknown	Het
Ints5	C	A	19: 8,873,322 (GRCm39)	P427Q	possibly damaging	Het
Jhy	A	T	9: 40,828,823 (GRCm39)	V361D	probably benign	Het
Klhl33	G	A	14: 51,130,322 (GRCm39)	Q131*	probably null	Het
Lama2	A	T	10: 27,080,881 (GRCm39)	C981S	probably damaging	Het
Mks1	C	A	11: 87,748,041 (GRCm39)	L225I	probably damaging	Het
Ms4a20	A	T	19: 11,083,055 (GRCm39)	Y122N	probably damaging	Het
Nfasc	T	A	1: 132,539,343 (GRCm39)	S402C	probably damaging	Het
Or2a57	T	C	6: 43,213,358 (GRCm39)	I272T	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,517 (GRCm39)	Y218F	unknown	Het
Or51g2	T	C	7: 102,622,560 (GRCm39)	D213G	probably damaging	Het
Pbx4	T	A	8: 70,316,999 (GRCm39)	D85E	possibly damaging	Het
Plcd1	T	C	9: 118,913,709 (GRCm39)	T50A	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Psen2	C	A	1: 180,056,972 (GRCm39)	E351*	probably null	Het
Rragd	G	A	4: 32,996,083 (GRCm39)	V143I	probably damaging	Het
Rsph14	A	T	10: 74,795,423 (GRCm39)	M254K	probably damaging	Het
Selenoi	C	T	5: 30,437,607 (GRCm39)		probably benign	Het
Six6	T	C	12: 72,986,935 (GRCm39)	S36P		Het
Slc12a8	T	C	16: 33,445,215 (GRCm39)	S370P	probably benign	Het
Slc25a46	A	G	18: 31,716,432 (GRCm39)	Y357H	probably benign	Het
Socs2	A	T	10: 95,248,948 (GRCm39)	V55D	probably damaging	Het
Socs6	T	C	18: 88,888,852 (GRCm39)	E21G	probably benign	Het
Spata31e4	C	T	13: 50,857,007 (GRCm39)	Q882*	probably null	Het
Speg	A	T	1: 75,365,076 (GRCm39)	T486S	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,165,473 (GRCm39)	K82E	probably damaging	Het
Sugt1	A	G	14: 79,825,155 (GRCm39)		probably benign	Het
Synm	T	C	7: 67,384,440 (GRCm39)	Y1074C	probably damaging	Het
Sytl2	A	G	7: 90,028,748 (GRCm39)	T476A	probably benign	Het
Tbc1d1	T	C	5: 64,414,349 (GRCm39)	S237P	probably benign	Het
Tbc1d5	C	A	17: 51,063,692 (GRCm39)	M629I	probably damaging	Het
Tlr11	G	A	14: 50,598,749 (GRCm39)	G245D	probably damaging	Het
Tspan4	T	C	7: 141,069,577 (GRCm39)	V59A	probably benign	Het
Tulp4	T	A	17: 6,283,472 (GRCm39)	V1167E	possibly damaging	Het
Usp42	G	A	5: 143,708,906 (GRCm39)	T204M	probably damaging	Het
Vapb	A	G	2: 173,617,948 (GRCm39)	K147R	possibly damaging	Het
Vmn1r228	T	C	17: 20,997,422 (GRCm39)	D32G	probably benign	Het
Vmn2r33	A	G	7: 7,554,168 (GRCm39)	F795S	probably damaging	Het
Vmn2r34	A	T	7: 7,675,527 (GRCm39)	N620K	probably damaging	Het
Vwf	G	T	6: 125,643,626 (GRCm39)	C2389F		Het
Wdr81	T	C	11: 75,332,908 (GRCm39)	E652G		Het
Wdr81	A	T	11: 75,343,207 (GRCm39)	S687T	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het

Other mutations in Gabrg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Gabrg3	APN	7	57,031,415 (GRCm39)	missense	probably damaging	0.99
IGL01501:Gabrg3	APN	7	56,374,214 (GRCm39)	missense	probably damaging	0.99
IGL02637:Gabrg3	APN	7	56,384,775 (GRCm39)	missense	probably damaging	0.99
IGL02707:Gabrg3	APN	7	56,632,439 (GRCm39)	nonsense	probably null
IGL03084:Gabrg3	APN	7	56,384,812 (GRCm39)	missense	possibly damaging	0.91
IGL03237:Gabrg3	APN	7	56,632,460 (GRCm39)	splice site	probably null
IGL03275:Gabrg3	APN	7	56,423,095 (GRCm39)	missense	probably damaging	1.00
IGL03309:Gabrg3	APN	7	56,632,433 (GRCm39)	missense	probably damaging	1.00
R0265:Gabrg3	UTSW	7	57,031,365 (GRCm39)	nonsense	probably null
R0612:Gabrg3	UTSW	7	56,379,454 (GRCm39)	missense	probably damaging	0.99
R0627:Gabrg3	UTSW	7	56,374,343 (GRCm39)	missense	probably damaging	0.99
R0676:Gabrg3	UTSW	7	56,374,169 (GRCm39)	missense	probably damaging	0.99
R1178:Gabrg3	UTSW	7	56,384,839 (GRCm39)	missense	probably benign	0.01
R1600:Gabrg3	UTSW	7	56,384,822 (GRCm39)	nonsense	probably null
R1702:Gabrg3	UTSW	7	56,634,848 (GRCm39)	missense	probably damaging	0.98
R1836:Gabrg3	UTSW	7	56,379,389 (GRCm39)	missense	probably damaging	1.00
R2327:Gabrg3	UTSW	7	56,384,835 (GRCm39)	missense	probably benign	0.01
R3816:Gabrg3	UTSW	7	57,031,412 (GRCm39)	nonsense	probably null
R3818:Gabrg3	UTSW	7	57,031,412 (GRCm39)	nonsense	probably null
R3819:Gabrg3	UTSW	7	57,031,412 (GRCm39)	nonsense	probably null
R4905:Gabrg3	UTSW	7	56,374,304 (GRCm39)	missense	probably damaging	0.98
R5643:Gabrg3	UTSW	7	56,423,032 (GRCm39)	missense	possibly damaging	0.95
R6088:Gabrg3	UTSW	7	56,634,826 (GRCm39)	missense	probably damaging	1.00
R6862:Gabrg3	UTSW	7	56,423,059 (GRCm39)	missense	possibly damaging	0.54
R6879:Gabrg3	UTSW	7	57,031,387 (GRCm39)	missense	probably damaging	1.00
R7075:Gabrg3	UTSW	7	56,973,444 (GRCm39)	missense	probably damaging	0.99
R7305:Gabrg3	UTSW	7	56,384,833 (GRCm39)	missense	probably benign	0.01
R7594:Gabrg3	UTSW	7	56,632,443 (GRCm39)	missense	possibly damaging	0.90
R7793:Gabrg3	UTSW	7	56,829,328 (GRCm39)	missense	probably benign	0.00
R7886:Gabrg3	UTSW	7	56,374,229 (GRCm39)	missense	probably damaging	1.00
R7989:Gabrg3	UTSW	7	56,374,389 (GRCm39)	missense	possibly damaging	0.70
R8002:Gabrg3	UTSW	7	56,384,716 (GRCm39)	missense	possibly damaging	0.90
R8203:Gabrg3	UTSW	7	56,423,008 (GRCm39)	missense	possibly damaging	0.65
R8875:Gabrg3	UTSW	7	56,379,514 (GRCm39)	missense	probably damaging	1.00
R8933:Gabrg3	UTSW	7	56,634,706 (GRCm39)	missense	probably damaging	0.96
R9090:Gabrg3	UTSW	7	56,829,386 (GRCm39)	missense	probably benign	0.03
R9229:Gabrg3	UTSW	7	56,374,268 (GRCm39)	missense	probably damaging	0.99
R9271:Gabrg3	UTSW	7	56,829,386 (GRCm39)	missense	probably benign	0.03
R9673:Gabrg3	UTSW	7	56,973,422 (GRCm39)	missense	probably damaging	0.98
R9734:Gabrg3	UTSW	7	56,634,908 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCTGTTGGCCTAAAAGC -3'
(R):5'- TGTACCTATAGAAACATGGCTAGG -3'

Sequencing Primer
(F):5'- AGCTGACTTAATTAAGTGCTCCTACC -3'
(R):5'- CTATAGAAACATGGCTAGGCTCCTAG -3'

Posted On

2021-11-19