Mutagenetix > Incidental Mutation

Incidental Mutation 'R6862:Gabrg3'

535691

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

045026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56366213-57036936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56423059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 213 (Q213R)

Ref Sequence

ENSEMBL: ENSMUSP00000067632 (fasta)

Gene Model

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

AlphaFold

P27681

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068911
AA Change: Q213R

PolyPhen 2 Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: Q213R

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

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,891,949 (GRCm39)		probably benign	Het
Adgra2	T	A	8: 27,603,465 (GRCm39)	C417S	probably damaging	Het
Adgra2	C	A	8: 27,603,464 (GRCm39)	H416Q	probably benign	Het
Aff3	C	A	1: 38,445,578 (GRCm39)	R307L	possibly damaging	Het
Arhgap17	T	C	7: 122,921,124 (GRCm39)	D121G	probably damaging	Het
Ascc3	G	T	10: 50,725,742 (GRCm39)	R2155I	probably null	Het
Ccdc115	C	T	1: 34,478,364 (GRCm39)	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,662,038 (GRCm39)	N382S	probably benign	Het
Cct6b	A	T	11: 82,610,785 (GRCm39)	V500E	probably damaging	Het
Cenpo	A	T	12: 4,266,539 (GRCm39)	Y190N	probably damaging	Het
Cfh	T	A	1: 140,030,100 (GRCm39)	K924N	probably damaging	Het
Col4a1	A	G	8: 11,252,926 (GRCm39)		probably benign	Het
Coro1b	T	C	19: 4,200,770 (GRCm39)	V234A	probably benign	Het
Crot	T	C	5: 9,039,641 (GRCm39)	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,274,339 (GRCm39)	H347Q	probably benign	Het
Efcab3	A	T	11: 104,612,284 (GRCm39)	K636*	probably null	Het
Fbn2	T	A	18: 58,257,393 (GRCm39)	I325F	probably benign	Het
Fbxw4	T	A	19: 45,571,187 (GRCm39)	R41S	probably benign	Het
Fn1	T	A	1: 71,653,066 (GRCm39)	I1308F	probably benign	Het
Frem1	C	A	4: 82,930,251 (GRCm39)	E232*	probably null	Het
Garin3	G	A	11: 46,298,418 (GRCm39)	G574D	possibly damaging	Het
Gsdme	A	T	6: 50,204,378 (GRCm39)	V193E	probably damaging	Het
Hadha	C	A	5: 30,352,977 (GRCm39)		probably null	Het
Hdgfl2	C	A	17: 56,406,211 (GRCm39)	A533E	probably damaging	Het
Hivep2	T	C	10: 14,006,327 (GRCm39)	F975S	probably damaging	Het
Htatip2	T	A	7: 49,420,666 (GRCm39)	S171T	probably benign	Het
Ift57	A	T	16: 49,584,167 (GRCm39)	I307F	possibly damaging	Het
Il22	A	T	10: 118,041,715 (GRCm39)	R110W	probably benign	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif2b	G	A	11: 91,466,741 (GRCm39)	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,515,515 (GRCm39)	I2776S	probably damaging	Het
Ly9	T	C	1: 171,428,723 (GRCm39)	D189G	probably benign	Het
Mal2	T	C	15: 54,451,753 (GRCm39)	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,245,526 (GRCm39)	N240I	probably benign	Het
Msantd5f1	A	G	4: 73,605,621 (GRCm39)	N344S	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nacc1	G	A	8: 85,399,844 (GRCm39)	R458C	probably damaging	Het
Ncapd3	T	C	9: 26,942,105 (GRCm39)	C14R	probably damaging	Het
Obscn	G	T	11: 58,886,279 (GRCm39)		probably benign	Het
Or13c3	A	G	4: 52,855,695 (GRCm39)	F273L	probably benign	Het
Or1j4	A	T	2: 36,740,234 (GRCm39)	M59L	possibly damaging	Het
Or8d23	T	A	9: 38,841,772 (GRCm39)	F102I	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pde4dip	C	A	3: 97,674,340 (GRCm39)	R192L	possibly damaging	Het
Pdlim4	C	A	11: 53,946,674 (GRCm39)	E204D	probably damaging	Het
Phf3	T	C	1: 30,853,063 (GRCm39)	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,985,103 (GRCm39)	L1464P	probably damaging	Het
Psg25	C	T	7: 18,255,323 (GRCm39)	V398I	probably benign	Het
Ptprq	T	A	10: 107,522,086 (GRCm39)	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Tex36	A	G	7: 133,189,002 (GRCm39)	L190P	probably benign	Het
Tk1	A	G	11: 117,707,320 (GRCm39)	C156R	probably damaging	Het
Tmem144	T	A	3: 79,739,406 (GRCm39)	M126L	probably benign	Het
Tmem208	G	A	8: 106,054,862 (GRCm39)		probably null	Het
Trappc13	T	C	13: 104,286,660 (GRCm39)	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,012,960 (GRCm39)	K156N	probably damaging	Het
Trps1	A	G	15: 50,695,001 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,394,757 (GRCm39)	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,932,026 (GRCm39)	D658E	probably benign	Het
Zfyve28	T	G	5: 34,445,449 (GRCm39)	K11N	probably benign	Het
Zp1	C	T	19: 10,893,877 (GRCm39)	V443I	possibly damaging	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
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
R9027:Gabrg3	UTSW	7	56,423,122 (GRCm39)	missense	possibly damaging	0.88
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'- ATGGAAGTCTACCAGGGCTTG -3'
(R):5'- AAGACAAGTATCAGGAGCCACTTG -3'

Sequencing Primer
(F):5'- TTGCCAGGAGGTTGGGACAC -3'
(R):5'- AAGTATCAGGAGCCACTTGTCCTTTG -3'

Posted On

2018-10-18