Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Gabrg2'

526472

Institutional Source

Beutler Lab

Gene Symbol

Gabrg2

Ensembl Gene

ENSMUSG00000020436

Gene Name

gamma-aminobutyric acid type A receptor, subunit gamma 2

Synonyms

GABAA-R, Gabrg-2, gamma2

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41801030-41891684 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 41891350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070725] [ENSMUST00000070735] [ENSMUST00000109290]

AlphaFold

P22723

Predicted Effect

probably benign
Transcript: ENSMUST00000070725

SMART Domains

Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
Pfam:Neur_chan_LBD	65	271	2.7e-55	PFAM
Pfam:Neur_chan_memb	278	408	1.8e-46	PFAM
transmembrane domain	442	464	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000070735

SMART Domains

Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
Pfam:Neur_chan_LBD	65	271	2.9e-53	PFAM
Pfam:Neur_chan_memb	278	419	2.2e-38	PFAM
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109290

SMART Domains

Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
Pfam:Neur_chan_LBD	65	271	1.2e-55	PFAM
Pfam:Neur_chan_memb	278	381	4.3e-44	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: This gene encodes a gamma-aminobutyric acid (GABA)-A receptor subunit, which is a member of the ligand-gated ion channel family. GABA is the major inhibitory neurotransmitter in the adult central nervous system, and conversely exhibits an excitatory function during development. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. This gene encodes one of three gamma subunits in mammals, which contain the binding site for benzodiazepine drugs. Several mutations in this gene are associated with epileptic seizures, and genetic knockdown is associated with anxiety behavior. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors. [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
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	Het

Other mutations in Gabrg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Gabrg2	APN	11	41,862,599 (GRCm39)	missense	possibly damaging	0.87
IGL00787:Gabrg2	APN	11	41,803,349 (GRCm39)	missense	probably benign	0.00
IGL01941:Gabrg2	APN	11	41,862,548 (GRCm39)	missense	probably damaging	1.00
IGL02801:Gabrg2	APN	11	41,803,220 (GRCm39)	missense	probably damaging	1.00
R0376:Gabrg2	UTSW	11	41,807,142 (GRCm39)	missense	possibly damaging	0.92
R1607:Gabrg2	UTSW	11	41,867,490 (GRCm39)	missense	probably damaging	0.98
R1934:Gabrg2	UTSW	11	41,811,297 (GRCm39)	missense	probably benign	0.10
R2226:Gabrg2	UTSW	11	41,862,735 (GRCm39)	missense	probably damaging	1.00
R2281:Gabrg2	UTSW	11	41,867,463 (GRCm39)	missense	possibly damaging	0.72
R4013:Gabrg2	UTSW	11	41,862,707 (GRCm39)	missense	possibly damaging	0.83
R4675:Gabrg2	UTSW	11	41,859,650 (GRCm39)	missense	probably damaging	1.00
R4869:Gabrg2	UTSW	11	41,811,231 (GRCm39)	missense	probably damaging	1.00
R5282:Gabrg2	UTSW	11	41,862,559 (GRCm39)	missense	probably damaging	1.00
R5316:Gabrg2	UTSW	11	41,867,385 (GRCm39)	missense	probably damaging	1.00
R5729:Gabrg2	UTSW	11	41,858,450 (GRCm39)	missense	probably damaging	1.00
R5876:Gabrg2	UTSW	11	41,859,647 (GRCm39)	missense	probably damaging	1.00
R6279:Gabrg2	UTSW	11	41,891,350 (GRCm39)	splice site	probably null
R6315:Gabrg2	UTSW	11	41,862,688 (GRCm39)	missense	probably damaging	0.99
R7181:Gabrg2	UTSW	11	41,811,261 (GRCm39)	missense	probably damaging	1.00
R7182:Gabrg2	UTSW	11	41,811,333 (GRCm39)	missense	probably damaging	0.98
R7368:Gabrg2	UTSW	11	41,867,390 (GRCm39)	nonsense	probably null
R7568:Gabrg2	UTSW	11	41,807,119 (GRCm39)	missense	probably benign	0.05
R7599:Gabrg2	UTSW	11	41,858,451 (GRCm39)	missense	possibly damaging	0.79
R7901:Gabrg2	UTSW	11	41,867,418 (GRCm39)	missense	probably benign	0.00
R7940:Gabrg2	UTSW	11	41,858,474 (GRCm39)	missense	probably benign	0.06
R8250:Gabrg2	UTSW	11	41,858,379 (GRCm39)	missense	probably benign	0.00
R8899:Gabrg2	UTSW	11	41,867,377 (GRCm39)	nonsense	probably null
R9043:Gabrg2	UTSW	11	41,865,662 (GRCm39)	missense	probably damaging	0.98
R9382:Gabrg2	UTSW	11	41,858,433 (GRCm39)	missense	probably benign	0.43
R9720:Gabrg2	UTSW	11	41,862,673 (GRCm39)	missense	probably damaging	1.00
X0065:Gabrg2	UTSW	11	41,803,196 (GRCm39)	missense	probably damaging	1.00
Z1191:Gabrg2	UTSW	11	41,807,104 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGCTCCATGTATTTGGCGAAC -3'
(R):5'- CTAAAAGGACCGACCCTTGG -3'

Sequencing Primer
(F):5'- CCATGTATTTGGCGAACTCATC -3'
(R):5'- AAGGACCGACCCTTGGGAATTC -3'

Posted On

2018-07-13