Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:Gabrg2'

510603

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

044472-MU

Accession Numbers

Essential gene?

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

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41801030-41891684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41862688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 132 (K132R)

Ref Sequence

ENSEMBL: ENSMUSP00000104913 (fasta)

Gene Model

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

AlphaFold

P22723

Predicted Effect

probably benign
Transcript: ENSMUST00000070725
AA Change: K132R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: K132R

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 benign
Transcript: ENSMUST00000070735
AA Change: K132R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: K132R

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: K132R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: K132R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155032

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,315 (GRCm39)	Y464H	probably damaging	Het
Ahnak	T	C	19: 8,983,990 (GRCm39)	M1758T	probably damaging	Het
Ak9	A	T	10: 41,282,837 (GRCm39)	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,377,330 (GRCm39)	H203Q	probably benign	Het
Ano3	A	G	2: 110,527,384 (GRCm39)	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,664,550 (GRCm39)	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,147,729 (GRCm39)	N215K	probably damaging	Het
Bpifa1	A	G	2: 153,987,996 (GRCm39)	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,721,417 (GRCm39)	T269M	probably damaging	Het
Cadm3	T	C	1: 173,171,919 (GRCm39)	D252G	probably benign	Het
Ccdc18	A	G	5: 108,309,448 (GRCm39)	R348G	probably benign	Het
Cers4	G	A	8: 4,566,980 (GRCm39)	C94Y	probably benign	Het
Cfap58	G	A	19: 47,929,716 (GRCm39)	R59H	probably benign	Het
Col19a1	C	T	1: 24,565,533 (GRCm39)	G266D	unknown	Het
Col6a5	G	T	9: 105,759,169 (GRCm39)	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,168,588 (GRCm39)	Q445R	probably benign	Het
Dsg3	A	G	18: 20,657,643 (GRCm39)	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132 (GRCm39)	S322N	probably benign	Het
Eif5b	A	G	1: 38,057,114 (GRCm39)	D57G	unknown	Het
Fbn2	T	C	18: 58,188,025 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,669,218 (GRCm39)	C77*	probably null	Het
Fgb	T	A	3: 82,952,362 (GRCm39)	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774 (GRCm39)	Y347N	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,874,995 (GRCm39)	L1833P	probably damaging	Het
Hk3	C	T	13: 55,158,970 (GRCm39)	D484N	probably benign	Het
Icam4	T	C	9: 20,941,248 (GRCm39)	V129A	probably damaging	Het
Impdh2	T	C	9: 108,440,638 (GRCm39)	S280P	possibly damaging	Het
Impg1	C	A	9: 80,301,356 (GRCm39)	G267V	probably benign	Het
Iqgap1	C	T	7: 80,449,638 (GRCm39)	V39M	possibly damaging	Het
Lyst	A	G	13: 13,818,089 (GRCm39)	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,122,591 (GRCm39)	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,038,983 (GRCm39)	T218I	probably damaging	Het
Myrfl	T	G	10: 116,658,724 (GRCm39)	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,877,797 (GRCm39)	S483P	unknown	Het
Neil2	A	G	14: 63,420,920 (GRCm39)	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,507,163 (GRCm39)	D312E	probably damaging	Het
Nin	A	T	12: 70,092,389 (GRCm39)	L640Q	probably damaging	Het
Nup205	T	A	6: 35,213,804 (GRCm39)	I1732N	probably damaging	Het
Nup42	T	C	5: 24,372,502 (GRCm39)	S97P	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,769 (GRCm39)	C148R	unknown	Het
Or5k16	A	C	16: 58,736,609 (GRCm39)	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,188,261 (GRCm39)	T785S	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,246,216 (GRCm39)	E66G	probably damaging	Het
Ros1	A	T	10: 51,994,306 (GRCm39)	W1325R	probably benign	Het
Sec14l5	A	C	16: 4,998,141 (GRCm39)	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,886,470 (GRCm39)	V302A	possibly damaging	Het
Spata19	T	C	9: 27,312,133 (GRCm39)	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,095,502 (GRCm39)	M298I	probably benign	Het
Tdrd6	A	T	17: 43,937,229 (GRCm39)	M1273K	probably benign	Het
Tectb	A	G	19: 55,179,904 (GRCm39)	H250R	possibly damaging	Het
Trip11	T	G	12: 101,851,837 (GRCm39)	E742D	possibly damaging	Het
Tslp	A	G	18: 32,950,143 (GRCm39)	T71A	probably benign	Het
Usp20	C	T	2: 30,907,770 (GRCm39)	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,949,757 (GRCm39)	F363L	probably benign	Het
Vsnl1	T	A	12: 11,382,156 (GRCm39)	N75I	probably damaging	Het
Wdr55	A	T	18: 36,895,122 (GRCm39)	D96V	probably damaging	Het
Wls	T	A	3: 159,640,007 (GRCm39)		probably null	Het
Zc3h13	A	G	14: 75,546,355 (GRCm39)	D152G	probably damaging	Het
Zc3h18	A	G	8: 123,110,604 (GRCm39)	E151G	probably benign	Het
Zfat	A	G	15: 67,956,311 (GRCm39)	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,531,685 (GRCm39)	T416S	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
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'- TCCCTTCCTGAAAGCATAGGG -3'
(R):5'- GTCTGCTGATGCACTATCCCATG -3'

Sequencing Primer
(F):5'- CCTGAAAGCATAGGGTTGATTTTG -3'
(R):5'- GATGTCTCATACTGGCAGTAAGC -3'

Posted On

2018-04-02