Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Gabrg2'

587917

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

045673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41801030-41891684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41858451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 226 (V226I)

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: V226I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064739
Gene: ENSMUSG00000020436
AA Change: V226I

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

possibly damaging
Transcript: ENSMUST00000070735
AA Change: V226I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063812
Gene: ENSMUSG00000020436
AA Change: V226I

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: V226I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104913
Gene: ENSMUSG00000020436
AA Change: V226I

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,256 (GRCm39)	S136G	probably benign	Het
Apba3	T	A	10: 81,108,180 (GRCm39)	N445K	probably damaging	Het
Aqp6	A	G	15: 99,501,652 (GRCm39)	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,391,169 (GRCm39)	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,056,071 (GRCm39)	I379T	probably damaging	Het
Bpnt2	G	A	4: 4,778,207 (GRCm39)	T177I	probably damaging	Het
Ccdc169	A	G	3: 55,047,530 (GRCm39)	D7G	probably damaging	Het
Cyp2f2	T	A	7: 26,830,784 (GRCm39)		probably null	Het
Daam2	T	A	17: 49,787,755 (GRCm39)	K453*	probably null	Het
Dennd4c	T	C	4: 86,729,849 (GRCm39)	L817P	probably damaging	Het
Efcab6	T	A	15: 83,755,189 (GRCm39)	R1376W	probably damaging	Het
Esrra	G	T	19: 6,891,214 (GRCm39)	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,203,874 (GRCm39)	V392E	probably damaging	Het
Fanca	A	G	8: 123,997,999 (GRCm39)	V1229A	probably benign	Het
Fdps	G	T	3: 89,006,693 (GRCm39)	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,499,438 (GRCm39)	D1269E	probably benign	Het
Foxred1	G	A	9: 35,116,932 (GRCm39)	R353W	probably damaging	Het
Gcnt2	C	A	13: 41,014,343 (GRCm39)	C171*	probably null	Het
Glyat	C	A	19: 12,617,172 (GRCm39)	A8E	probably damaging	Het
Golgb1	C	A	16: 36,695,758 (GRCm39)	R86S	unknown	Het
Hc	T	A	2: 34,940,431 (GRCm39)	T136S	probably damaging	Het
Hdac1	G	T	4: 129,411,259 (GRCm39)	S421*	probably null	Het
Hmcn2	G	T	2: 31,246,298 (GRCm39)	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,170,571 (GRCm39)	N54S	probably benign	Het
Itgae	T	A	11: 73,012,786 (GRCm39)	V706E	possibly damaging	Het
Itgax	G	A	7: 127,747,262 (GRCm39)	V992M	probably damaging	Het
Klk10	A	G	7: 43,433,851 (GRCm39)	D221G	probably benign	Het
Klkb1	T	C	8: 45,731,150 (GRCm39)	I205V	probably benign	Het
Kpna2	T	C	11: 106,889,583 (GRCm39)	N8S	probably null	Het
L3mbtl1	A	C	2: 162,806,434 (GRCm39)	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,551,561 (GRCm39)	C4181Y		Het
Mcat	T	C	15: 83,431,872 (GRCm39)	Y332C	probably damaging	Het
Mecom	T	C	3: 30,010,534 (GRCm39)	D648G	probably damaging	Het
Mesp2	A	T	7: 79,460,717 (GRCm39)	D14V	probably damaging	Het
Mlh3	A	T	12: 85,314,973 (GRCm39)	Y404*	probably null	Het
Mterf3	A	T	13: 67,065,212 (GRCm39)	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,478,832 (GRCm39)	V602A	probably benign	Het
Or4a74	T	A	2: 89,439,571 (GRCm39)	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,351,623 (GRCm39)	F209L	probably damaging	Het
Pmp22	C	A	11: 63,049,174 (GRCm39)	A139D	probably damaging	Het
Polr2e	T	C	10: 79,874,404 (GRCm39)	D34G	possibly damaging	Het
Ppard	T	A	17: 28,516,091 (GRCm39)	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,582,942 (GRCm39)	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,518 (GRCm39)	A1536V	not run	Het
Qng1	T	A	13: 58,529,649 (GRCm39)	H321L	probably damaging	Het
Rabgap1	TGGGG	TGGG	2: 37,392,908 (GRCm39)		probably null	Het
Retreg1	T	A	15: 25,971,727 (GRCm39)	D222E	probably benign	Het
Rmnd1	T	C	10: 4,363,404 (GRCm39)	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,015,267 (GRCm39)	R887H	possibly damaging	Het
Samd3	A	G	10: 26,139,711 (GRCm39)	D281G	probably benign	Het
Scube1	T	A	15: 83,497,653 (GRCm39)	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 129,834,460 (GRCm39)		probably benign	Het
Slc2a2	A	G	3: 28,752,166 (GRCm39)	M1V	probably null	Het
Slc39a2	A	T	14: 52,132,488 (GRCm39)	T144S	probably benign	Het
Slc5a9	T	C	4: 111,734,937 (GRCm39)	H619R	probably benign	Het
Slco4a1	T	C	2: 180,113,048 (GRCm39)	F427L	probably benign	Het
Snapc3	C	A	4: 83,336,073 (GRCm39)	Y28*	probably null	Het
St3gal6	C	T	16: 58,293,800 (GRCm39)	R243H	probably benign	Het
Stat2	T	A	10: 128,113,066 (GRCm39)	N119K	possibly damaging	Het
Syne2	G	C	12: 76,013,145 (GRCm39)	V2779L	probably benign	Het
Tacc1	T	A	8: 25,691,301 (GRCm39)	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,027,929 (GRCm39)	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,766 (GRCm39)	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,815,292 (GRCm39)	I18T	probably benign	Het
Wdr35	G	C	12: 9,074,886 (GRCm39)	A1000P	probably benign	Het
Wnk1	C	A	6: 119,906,789 (GRCm39)	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,884,625 (GRCm39)	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,349,129 (GRCm39)	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,378,630 (GRCm39)	K265R	probably benign	Het
Zfp575	T	C	7: 24,286,093 (GRCm39)	D21G	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
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
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'- TCTCTGCAACTAGAATACCAGC -3'
(R):5'- GAGGCAAATTCCACAAGGC -3'

Sequencing Primer
(F):5'- ACTAGAATACCAGCTATCATTTTGTC -3'
(R):5'- GCCAGTCCAGTGTGCTCATATG -3'

Posted On

2019-10-24