Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Gabrg2'

558992

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

045270-MU

Accession Numbers

Essential gene?

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

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41801030-41891684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41811261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 295 (I295F)

Ref Sequence

ENSEMBL: ENSMUSP00000063812 (fasta)

Gene Model

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

AlphaFold

P22723

Predicted Effect

probably damaging
Transcript: ENSMUST00000070725
AA Change: I295F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: I295F

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 damaging
Transcript: ENSMUST00000070735
AA Change: I295F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: I295F

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 damaging
Transcript: ENSMUST00000109290
AA Change: I295F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: I295F

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

0.9232

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Dnajc10	T	G	2: 80,149,587 (GRCm39)	Y96*	probably null	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fer1l6	G	A	15: 58,447,146 (GRCm39)	A626T	probably benign	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Hirip3	A	G	7: 126,463,235 (GRCm39)	D397G	probably damaging	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Serpinb7	A	T	1: 107,378,052 (GRCm39)	E248D	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,563,299 (GRCm39)	F203S	possibly damaging	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tbx21	T	A	11: 96,989,923 (GRCm39)	D423V	probably benign	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Uba2	G	T	7: 33,840,854 (GRCm39)	D591E	probably benign	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	probably benign	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
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'- TGTGGTAAGCTCTCATGAATATGC -3'
(R):5'- AGTCCTTCTCTTTCAGGTGACTATG -3'

Sequencing Primer
(F):5'- GGTAAGCTCTCATGAATATGCATGTG -3'
(R):5'- ATGTGGTGATGTCTGTGTCCATAGC -3'

Posted On

2019-06-26