Mutagenetix > Incidental Mutations

Incidental Mutation 'R5876:Gabrg2'

455544

Institutional Source

Beutler Lab

Gene Symbol

Gabrg2

Ensembl Gene

ENSMUSG00000020436

Gene Name

gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2

Synonyms

gamma2, Gabrg-2, GABAA-R

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5876 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41910203-42000857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41968820 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 202 (S202P)

Ref Sequence

ENSEMBL: ENSMUSP00000104913 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000070725
AA Change: S202P

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

SMART Domains

Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: S202P

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: S202P

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

SMART Domains

Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: S202P

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: S202P

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

SMART Domains

Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: S202P

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,663,582	D64G	possibly damaging	Het
Ano2	T	A	6: 126,039,279	M925K	possibly damaging	Het
Arnt2	T	C	7: 84,347,512	T69A	probably damaging	Het
Asap2	T	A	12: 21,212,809	N229K	possibly damaging	Het
Atp13a3	T	A	16: 30,362,734	N23Y	probably benign	Het
Cbr4	G	A	8: 61,490,593	G91R	possibly damaging	Het
Cdc27	A	T	11: 104,515,418	C624S	probably benign	Het
Cdc42bpg	T	A	19: 6,310,815	I201N	probably damaging	Het
Cdh5	A	G	8: 104,142,577	Y645C	probably damaging	Het
Celsr2	C	T	3: 108,413,943	V518I	probably damaging	Het
Clca4b	T	C	3: 144,912,060	T761A	possibly damaging	Het
Cpne4	C	A	9: 104,925,770	S204R	probably damaging	Het
Dcaf1	T	C	9: 106,863,650	W1279R	probably damaging	Het
Dennd4a	C	T	9: 64,911,755	P1731S	probably damaging	Het
Dmxl1	T	A	18: 49,870,984	V892D	possibly damaging	Het
Fam131b	A	G	6: 42,321,248		probably null	Het
Fam83b	T	A	9: 76,491,850	D657V	possibly damaging	Het
Fam83e	T	A	7: 45,722,363		probably null	Het
Fbxo4	A	T	15: 3,977,819	I121N	probably damaging	Het
Gm10471	T	C	5: 26,084,718	E237G	probably damaging	Het
Grid2	T	A	6: 64,663,162	I788N	probably damaging	Het
Grik4	T	A	9: 42,688,023	N53Y	probably damaging	Het
Hipk2	A	C	6: 38,730,867		probably null	Het
Hps5	T	C	7: 46,789,196	T38A	probably damaging	Het
Hs1bp3	A	G	12: 8,341,843	D315G	possibly damaging	Het
Kdm4a	C	T	4: 118,138,876	M985I	probably damaging	Het
Kdm5d	A	G	Y: 900,525	Y190C	probably damaging	Het
Krt86	T	C	15: 101,476,610	S295P	probably damaging	Het
Matr3	T	A	18: 35,587,738	D413E	probably benign	Het
Mbd5	T	A	2: 49,274,645	F319L	probably damaging	Het
Mcoln1	T	A	8: 3,510,910	Y411N	probably damaging	Het
Mpdz	C	A	4: 81,285,474	E1863*	probably null	Het
Mrps9	A	G	1: 42,895,378	E173G	probably damaging	Het
Olfr8	A	T	10: 78,955,357	I51F	probably benign	Het
Osmr	T	C	15: 6,821,047	T692A	probably benign	Het
Pkhd1l1	A	T	15: 44,578,588	H3641L	possibly damaging	Het
Pml	T	C	9: 58,233,182	T421A	possibly damaging	Het
Podxl	A	G	6: 31,528,456		probably null	Het
Ppargc1b	C	G	18: 61,309,093	D591H	probably damaging	Het
Prkag3	A	G	1: 74,748,816		probably benign	Het
Proz	A	G	8: 13,073,448	R240G	probably benign	Het
Ptpn13	C	A	5: 103,476,960	D43E	probably damaging	Het
Rbm5	T	G	9: 107,760,326	K135N	probably damaging	Het
Ska1	G	A	18: 74,197,528	T201M	probably damaging	Het
Slc35f5	A	C	1: 125,587,363		probably null	Het
Slc9a3	T	C	13: 74,161,723	L510P	probably damaging	Het
Svil	A	G	18: 5,082,828	K1231E	probably damaging	Het
Tanc2	T	C	11: 105,922,613	S1628P	possibly damaging	Het
Tm9sf3	T	A	19: 41,240,584	D260V	probably damaging	Het
Ttc9	G	T	12: 81,631,622	R73L	probably damaging	Het
Vps13b	A	G	15: 35,917,061	I3684V	probably damaging	Het
Vps8	T	C	16: 21,461,439		probably null	Het
Vwa3b	T	A	1: 37,076,439	I328N	probably damaging	Het
Wdr1	C	T	5: 38,530,023	V222M	probably benign	Het
Xpnpep1	T	A	19: 52,997,008	T530S	probably damaging	Het
Zc3h6	C	T	2: 128,993,277	S111F	probably benign	Het
Zfp768	G	A	7: 127,344,546	P137S	probably benign	Het

Other mutations in Gabrg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Gabrg2	APN	11	41971772	missense	possibly damaging	0.87
IGL00787:Gabrg2	APN	11	41912522	missense	probably benign	0.00
IGL01941:Gabrg2	APN	11	41971721	missense	probably damaging	1.00
IGL02801:Gabrg2	APN	11	41912393	missense	probably damaging	1.00
R0376:Gabrg2	UTSW	11	41916315	missense	possibly damaging	0.92
R1607:Gabrg2	UTSW	11	41976663	missense	probably damaging	0.98
R1934:Gabrg2	UTSW	11	41920470	missense	probably benign	0.10
R2226:Gabrg2	UTSW	11	41971908	missense	probably damaging	1.00
R2281:Gabrg2	UTSW	11	41976636	missense	possibly damaging	0.72
R4013:Gabrg2	UTSW	11	41971880	missense	possibly damaging	0.83
R4675:Gabrg2	UTSW	11	41968823	missense	probably damaging	1.00
R4869:Gabrg2	UTSW	11	41920404	missense	probably damaging	1.00
R5282:Gabrg2	UTSW	11	41971732	missense	probably damaging	1.00
R5316:Gabrg2	UTSW	11	41976558	missense	probably damaging	1.00
R5729:Gabrg2	UTSW	11	41967623	missense	probably damaging	1.00
R6279:Gabrg2	UTSW	11	42000523	splice site	probably null
R6300:Gabrg2	UTSW	11	42000523	splice site	probably null
R6315:Gabrg2	UTSW	11	41971861	missense	probably damaging	0.99
R7181:Gabrg2	UTSW	11	41920434	missense	probably damaging	1.00
R7182:Gabrg2	UTSW	11	41920506	missense	probably damaging	0.98
R7368:Gabrg2	UTSW	11	41976563	nonsense	probably null
R7568:Gabrg2	UTSW	11	41916292	missense	probably benign	0.05
R7599:Gabrg2	UTSW	11	41967624	missense	possibly damaging	0.79
R7901:Gabrg2	UTSW	11	41976591	missense	probably benign	0.00
R7940:Gabrg2	UTSW	11	41967647	missense	probably benign	0.06
R8250:Gabrg2	UTSW	11	41967552	missense	probably benign	0.00
X0065:Gabrg2	UTSW	11	41912369	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGTCTGGACACATTGTC -3'
(R):5'- ATGCTCGGAAATAATTCTTGCCTAG -3'

Sequencing Primer
(F):5'- AAGAGTTGCCCATTCTATCAATTC -3'
(R):5'- CGGAAATAATTCTTGCCTAGAACTTG -3'

Posted On

2017-02-10