Mutagenetix > Incidental Mutation

Incidental Mutation 'R8899:Gabrg2'

679852

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

068756-MU

Accession Numbers

Essential gene?

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

Stock #

R8899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41801030-41891684 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 41867377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 81 (R81*)

Ref Sequence

ENSEMBL: ENSMUSP00000104913 (fasta)

Gene Model

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

AlphaFold

P22723

Predicted Effect

probably null
Transcript: ENSMUST00000070725
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: R81*

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
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: R81*

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
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: R81*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	A	T	15: 10,378,900 (GRCm39)	N167I	probably damaging	Het
Arel1	A	G	12: 84,981,017 (GRCm39)	I330T	probably benign	Het
Ate1	T	C	7: 129,996,389 (GRCm39)	K484E	possibly damaging	Het
Atl2	T	C	17: 80,183,469 (GRCm39)	D42G	probably benign	Het
Bltp1	T	C	3: 37,042,429 (GRCm39)	I2805T	probably damaging	Het
Cd209e	C	T	8: 3,901,212 (GRCm39)	W147*	probably null	Het
Cdc40	G	A	10: 40,717,809 (GRCm39)	Q365*	probably null	Het
Cenpe	A	G	3: 134,945,644 (GRCm39)	T1053A	probably benign	Het
Colgalt1	T	C	8: 72,076,306 (GRCm39)	S586P	probably damaging	Het
Crem	A	G	18: 3,295,370 (GRCm39)	I91T	probably damaging	Het
Csrnp3	G	A	2: 65,852,987 (GRCm39)	V460I	possibly damaging	Het
Cul1	T	A	6: 47,474,246 (GRCm39)	I136N	possibly damaging	Het
Ddx19b	A	T	8: 111,737,929 (GRCm39)	I273N	probably damaging	Het
Fap	A	G	2: 62,348,817 (GRCm39)	I505T	probably damaging	Het
Fbxo44	A	T	4: 148,238,078 (GRCm39)	Y216*	probably null	Het
Fbxw10	T	A	11: 62,748,567 (GRCm39)	M398K	probably damaging	Het
Fut10	T	C	8: 31,726,514 (GRCm39)	V423A	possibly damaging	Het
Fyco1	A	C	9: 123,655,646 (GRCm39)	D1037E	probably benign	Het
Gcn1	T	C	5: 115,717,220 (GRCm39)	V204A	probably benign	Het
Gnl1	T	C	17: 36,299,608 (GRCm39)	L593P	probably damaging	Het
Grm4	T	C	17: 27,653,754 (GRCm39)	Q732R	probably damaging	Het
Icam5	T	C	9: 20,948,415 (GRCm39)	V741A	possibly damaging	Het
Iqub	C	T	6: 24,505,768 (GRCm39)	E47K	probably benign	Het
Kcnk3	A	G	5: 30,779,580 (GRCm39)	K210R	probably benign	Het
Kdm2b	T	A	5: 123,125,851 (GRCm39)	R12*	probably null	Het
Kifbp	T	C	10: 62,399,282 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi1	C	T	19: 38,294,538 (GRCm39)	H413Y	probably damaging	Het
Lhx8	A	G	3: 154,033,653 (GRCm39)	Y51H	probably damaging	Het
Lim2	T	C	7: 43,083,055 (GRCm39)	I80T	probably benign	Het
Macf1	A	G	4: 123,368,852 (GRCm39)	F405L	probably benign	Het
Mefv	G	A	16: 3,528,764 (GRCm39)	T559I	probably damaging	Het
Nin	A	G	12: 70,077,710 (GRCm39)	W1739R	probably damaging	Het
Or10h1	A	T	17: 33,418,718 (GRCm39)	K232M	probably damaging	Het
Or11j4	T	C	14: 50,630,269 (GRCm39)	F19L	probably damaging	Het
Or5t16	A	G	2: 86,818,710 (GRCm39)	I270T	probably benign	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Otop3	T	C	11: 115,231,886 (GRCm39)		probably null	Het
Pate9	A	T	9: 36,446,254 (GRCm39)	C53S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,082 (GRCm39)	I247V	probably benign	Het
Polr2d	T	A	18: 31,922,226 (GRCm39)	M1K	probably null	Het
Prss53	T	C	7: 127,488,193 (GRCm39)	T141A	possibly damaging	Het
Rdh12	A	G	12: 79,268,802 (GRCm39)	N293S	probably benign	Het
Rnf146	G	A	10: 29,223,754 (GRCm39)	T44I	probably benign	Het
Rsbn1l	A	T	5: 21,101,865 (GRCm39)	C588S	probably damaging	Het
Septin8	G	A	11: 53,426,862 (GRCm39)	V208I	probably damaging	Het
Sgo2a	T	G	1: 58,058,822 (GRCm39)	S1134A	possibly damaging	Het
Sh3bp4	C	T	1: 89,073,297 (GRCm39)	T715I	probably benign	Het
Snrnp200	A	G	2: 127,078,517 (GRCm39)	T1758A	probably damaging	Het
Snx6	A	T	12: 54,812,423 (GRCm39)	D70E	probably benign	Het
Spag9	T	C	11: 93,983,695 (GRCm39)	S341P	probably damaging	Het
Sparcl1	T	C	5: 104,240,590 (GRCm39)	D278G	probably benign	Het
Spmap2l	T	A	5: 77,185,200 (GRCm39)		probably null	Het
Srbd1	T	A	17: 86,292,885 (GRCm39)	S895C		Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tas2r136	T	C	6: 132,754,323 (GRCm39)	D268G	probably benign	Het
Tas2r143	T	A	6: 42,377,888 (GRCm39)	Y239*	probably null	Het
Tbc1d17	C	T	7: 44,492,328 (GRCm39)	G419D	probably damaging	Het
Tff2	C	T	17: 31,362,113 (GRCm39)	W68*	probably null	Het
Thop1	T	C	10: 80,916,440 (GRCm39)	C483R	probably damaging	Het
Tmem245	A	C	4: 56,903,916 (GRCm39)		probably null	Het
Tmem67	A	G	4: 12,055,038 (GRCm39)	F655S	probably damaging	Het
Trim36	T	G	18: 46,302,264 (GRCm39)	S583R	possibly damaging	Het
Ucp1	T	C	8: 84,017,216 (GRCm39)	V2A	probably benign	Het
Ugt1a6a	T	A	1: 88,066,803 (GRCm39)	M203K	probably damaging	Het
Usp1	A	G	4: 98,819,347 (GRCm39)	K270E	probably damaging	Het
Vps13c	T	C	9: 67,841,783 (GRCm39)	F1935S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp799	G	T	17: 33,039,348 (GRCm39)	P306Q	probably damaging	Het
Zfp831	A	T	2: 174,485,978 (GRCm39)	R218W	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
R6300: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
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'- TTACAATCCCAACCTTGACTGC -3'
(R):5'- GTCATCTATGTGTTTGACGACC -3'

Sequencing Primer
(F):5'- GAACTCACTCTGTAGACCAGGTTG -3'
(R):5'- GACGACCATTATTTTGTTTTCTTAGC -3'

Posted On

2021-08-31