Mutagenetix > Incidental Mutation

Incidental Mutation 'R0368:Gabrr3'

30342

Institutional Source

Beutler Lab

Gene Symbol

Gabrr3

Ensembl Gene

ENSMUSG00000074991

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 3

Synonyms

MMRRC Submission

038574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59227745-59282102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59260959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 289 (D289G)

Ref Sequence

ENSEMBL: ENSMUSP00000109980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114341]

AlphaFold

B2RXA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000114341
AA Change: D289G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: D289G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Neur_chan_LBD	57	264	3.8e-55	PFAM
Pfam:Neur_chan_memb	271	426	8.6e-31	PFAM
transmembrane domain	446	463	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 8,985,714 (GRCm39)	K2333*	probably null	Het
Aox4	C	T	1: 58,252,238 (GRCm39)	L38F	probably benign	Het
Arhgef15	T	C	11: 68,845,519 (GRCm39)	E111G	probably damaging	Het
Atp8a2	A	T	14: 60,097,661 (GRCm39)	I789N	probably damaging	Het
Cdca2	A	G	14: 67,937,796 (GRCm39)	S286P	possibly damaging	Het
Chrnb1	T	A	11: 69,675,583 (GRCm39)	K457M	probably damaging	Het
Cimip2a	T	A	2: 25,110,685 (GRCm39)	D164E	probably benign	Het
Clec2g	A	G	6: 128,957,224 (GRCm39)	I61V	possibly damaging	Het
Cyb5r3	G	A	15: 83,042,993 (GRCm39)	A233V	probably benign	Het
Cyp4a10	T	A	4: 115,382,574 (GRCm39)	L278*	probably null	Het
Dnmt1	T	C	9: 20,853,053 (GRCm39)	E56G	probably damaging	Het
Fbln5	A	G	12: 101,775,973 (GRCm39)		probably null	Het
Fhip2a	A	G	19: 57,357,010 (GRCm39)	T34A	possibly damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gpr45	T	C	1: 43,072,176 (GRCm39)	L273P	probably damaging	Het
Hkdc1	T	C	10: 62,247,486 (GRCm39)	E125G	probably null	Het
Il25	A	G	14: 55,172,631 (GRCm39)		probably null	Het
Itfg1	A	T	8: 86,491,036 (GRCm39)	W298R	probably damaging	Het
Kank1	A	T	19: 25,387,967 (GRCm39)	K547*	probably null	Het
Lama5	G	A	2: 179,823,023 (GRCm39)	R2748*	probably null	Het
Lrp4	C	T	2: 91,308,079 (GRCm39)	T508I	probably damaging	Het
Map3k10	C	T	7: 27,362,785 (GRCm39)	V434I	probably damaging	Het
Map3k6	A	G	4: 132,979,970 (GRCm39)	M1265V	probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Msh4	T	A	3: 153,594,462 (GRCm39)	Y113F	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nrip1	A	G	16: 76,090,904 (GRCm39)	S218P	probably damaging	Het
Olig1	C	T	16: 91,067,540 (GRCm39)	S259F	probably damaging	Het
Or4k37	T	C	2: 111,159,132 (GRCm39)	Y123H	probably damaging	Het
Or4k41	T	C	2: 111,280,133 (GRCm39)	I216T	probably benign	Het
Osbpl9	A	G	4: 108,924,129 (GRCm39)	V499A	probably damaging	Het
Pafah2	T	C	4: 134,149,802 (GRCm39)	V371A	probably benign	Het
Pkp1	T	A	1: 135,803,421 (GRCm39)	M712L	probably benign	Het
Pkp1	T	C	1: 135,814,590 (GRCm39)	S244G	probably benign	Het
Ppp1r3a	T	C	6: 14,718,959 (GRCm39)	T652A	probably benign	Het
Rab21	A	T	10: 115,134,795 (GRCm39)	V108E	probably damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Sema5b	T	A	16: 35,448,470 (GRCm39)	V82E	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Slc13a2	A	T	11: 78,295,626 (GRCm39)	L80*	probably null	Het
Slc1a5	C	T	7: 16,516,103 (GRCm39)	P93L	probably damaging	Het
Slc35b2	T	C	17: 45,877,389 (GRCm39)	V172A	probably benign	Het
Slfn8	A	G	11: 82,907,958 (GRCm39)	L195P	probably damaging	Het
Smox	G	A	2: 131,364,078 (GRCm39)	S320N	probably damaging	Het
Sptan1	T	C	2: 29,883,927 (GRCm39)	V589A	probably benign	Het
Stim2	G	A	5: 54,267,482 (GRCm39)		probably null	Het
V1ra8	A	G	6: 90,179,944 (GRCm39)	D49G	probably damaging	Het
Vmn1r233	A	T	17: 21,214,869 (GRCm39)	V27D	possibly damaging	Het
Vmn2r98	A	T	17: 19,286,089 (GRCm39)	K196*	probably null	Het
Wdr77	T	C	3: 105,869,382 (GRCm39)		probably null	Het

Other mutations in Gabrr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02816:Gabrr3	APN	16	59,260,830 (GRCm39)	splice site	probably benign
IGL02989:Gabrr3	APN	16	59,268,371 (GRCm39)	missense	probably damaging	0.98
IGL03048:Gabrr3	UTSW	16	59,250,493 (GRCm39)	missense	probably benign	0.00
PIT4791001:Gabrr3	UTSW	16	59,250,298 (GRCm39)	critical splice acceptor site	probably null
R0976:Gabrr3	UTSW	16	59,281,887 (GRCm39)	missense	probably benign	0.34
R1104:Gabrr3	UTSW	16	59,281,998 (GRCm39)	missense	probably damaging	0.98
R1231:Gabrr3	UTSW	16	59,281,763 (GRCm39)	missense	probably benign	0.01
R1556:Gabrr3	UTSW	16	59,281,763 (GRCm39)	missense	probably benign	0.01
R2181:Gabrr3	UTSW	16	59,268,372 (GRCm39)	missense	probably damaging	0.98
R2185:Gabrr3	UTSW	16	59,255,031 (GRCm39)	missense	probably damaging	1.00
R2336:Gabrr3	UTSW	16	59,250,313 (GRCm39)	missense	probably damaging	1.00
R3941:Gabrr3	UTSW	16	59,253,864 (GRCm39)	missense	probably damaging	1.00
R4572:Gabrr3	UTSW	16	59,282,001 (GRCm39)	missense	probably benign	0.09
R4747:Gabrr3	UTSW	16	59,268,277 (GRCm39)	splice site	probably null
R4786:Gabrr3	UTSW	16	59,250,463 (GRCm39)	missense	probably benign	0.44
R4845:Gabrr3	UTSW	16	59,246,833 (GRCm39)	missense	probably damaging	0.99
R5539:Gabrr3	UTSW	16	59,281,758 (GRCm39)	missense	probably benign
R5543:Gabrr3	UTSW	16	59,253,870 (GRCm39)	missense	probably damaging	1.00
R5979:Gabrr3	UTSW	16	59,254,931 (GRCm39)	missense	possibly damaging	0.81
R6211:Gabrr3	UTSW	16	59,268,471 (GRCm39)	missense	probably benign
R7338:Gabrr3	UTSW	16	59,268,439 (GRCm39)	missense	possibly damaging	0.70
R7456:Gabrr3	UTSW	16	59,227,853 (GRCm39)	nonsense	probably null
R8673:Gabrr3	UTSW	16	59,235,633 (GRCm39)	missense	possibly damaging	0.55
R9001:Gabrr3	UTSW	16	59,282,008 (GRCm39)	missense	probably benign	0.01
R9139:Gabrr3	UTSW	16	59,227,830 (GRCm39)	missense	probably benign	0.12
R9378:Gabrr3	UTSW	16	59,282,037 (GRCm39)	missense	possibly damaging	0.78
Z1176:Gabrr3	UTSW	16	59,227,845 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAAGAGCTGCTGCTGAGTAAG -3'
(R):5'- AGCCGTATCCTGACGAATCTCTCC -3'

Sequencing Primer
(F):5'- CACGGTCTATGTCTCTGAGAGC -3'
(R):5'- GAATCTCTCCTTGCTTCTCCATATAG -3'

Posted On

2013-04-24