Mutagenetix > Incidental Mutation

Incidental Mutation 'R1556:Gabrr3'

170308

Institutional Source

Beutler Lab

Gene Symbol

Gabrr3

Ensembl Gene

ENSMUSG00000074991

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 3

Synonyms

MMRRC Submission

039595-MU

Accession Numbers

Essential gene?

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

Stock #

R1556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59227745-59282102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59281763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 373 (D373N)

Ref Sequence

ENSEMBL: ENSMUSP00000109980 (fasta)

Gene Model

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

AlphaFold

B2RXA8

Predicted Effect

probably benign
Transcript: ENSMUST00000114341
AA Change: D373N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: D373N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185295

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,203,477 (GRCm39)	S302P	probably damaging	Het
Anapc1	T	C	2: 128,466,819 (GRCm39)	T1626A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arid5a	T	A	1: 36,359,245 (GRCm39)	Y520*	probably null	Het
Aven	G	A	2: 112,461,230 (GRCm39)	M215I	probably damaging	Het
Cabyr	A	G	18: 12,877,837 (GRCm39)	D58G	probably damaging	Het
Ccdc146	A	G	5: 21,535,551 (GRCm39)	Y168H	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cd68	T	A	11: 69,556,676 (GRCm39)	T44S	probably damaging	Het
Clstn2	A	T	9: 97,338,558 (GRCm39)	I867N	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Col6a6	A	G	9: 105,586,672 (GRCm39)	V1783A	possibly damaging	Het
Dach2	T	C	X: 112,208,214 (GRCm39)	S31P	probably benign	Het
Dpp8	T	A	9: 64,958,761 (GRCm39)	W279R	probably damaging	Het
Fras1	A	T	5: 96,890,921 (GRCm39)	I2817F	possibly damaging	Het
Gdf7	T	C	12: 8,351,698 (GRCm39)	N79S	unknown	Het
Gpam	A	G	19: 55,064,763 (GRCm39)	V647A	possibly damaging	Het
Gpatch1	T	C	7: 34,994,776 (GRCm39)	T497A	probably benign	Het
Grin2a	A	T	16: 9,525,579 (GRCm39)	F337L	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2-Aa	A	T	17: 34,503,390 (GRCm39)	V69D	possibly damaging	Het
H2-M10.5	T	C	17: 37,084,205 (GRCm39)	Y56H	probably damaging	Het
Kcnu1	G	A	8: 26,351,219 (GRCm39)		probably null	Het
Krt77	A	G	15: 101,769,713 (GRCm39)	S386P	probably damaging	Het
L3mbtl2	T	A	15: 81,566,203 (GRCm39)	M342K	probably benign	Het
Ldlrad1	A	G	4: 107,075,010 (GRCm39)	T186A	probably benign	Het
Lins1	C	A	7: 66,360,385 (GRCm39)	C168*	probably null	Het
Lrrtm3	G	A	10: 63,923,928 (GRCm39)	T413M	probably damaging	Het
Macf1	T	C	4: 123,348,813 (GRCm39)	D4038G	probably damaging	Het
Mark3	T	G	12: 111,594,275 (GRCm39)	N308K	probably damaging	Het
Mdga2	T	A	12: 66,597,367 (GRCm39)	Y709F	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or1p1	T	A	11: 74,179,762 (GRCm39)	C97S	probably damaging	Het
Or4k15c	G	A	14: 50,321,916 (GRCm39)	A74V	possibly damaging	Het
Or51a24	T	A	7: 103,733,468 (GRCm39)	H273L	probably benign	Het
Or6c76	T	C	10: 129,612,242 (GRCm39)	V168A	probably benign	Het
Ovgp1	A	G	3: 105,894,068 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 54,015,836 (GRCm39)	T408A	probably damaging	Het
Pcdh8	T	G	14: 80,007,843 (GRCm39)	D240A	probably damaging	Het
Pcyt2	T	C	11: 120,502,911 (GRCm39)		probably null	Het
Pecr	T	A	1: 72,298,542 (GRCm39)	I293L	probably benign	Het
Pogk	A	G	1: 166,226,402 (GRCm39)	V583A	possibly damaging	Het
Prkg1	T	C	19: 30,602,143 (GRCm39)	K371R	probably benign	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rgs12	A	G	5: 35,196,626 (GRCm39)	R769G	possibly damaging	Het
Sgtb	T	A	13: 104,276,284 (GRCm39)	N237K	probably damaging	Het
Sh3bgrl2	T	C	9: 83,476,751 (GRCm39)	V91A	probably damaging	Het
Slc4a1ap	G	A	5: 31,691,554 (GRCm39)		probably null	Het
Slc4a7	T	C	14: 14,778,872 (GRCm38)	V940A	probably benign	Het
Tep1	T	C	14: 51,090,499 (GRCm39)	T740A	probably benign	Het
Tnk2	G	T	16: 32,489,737 (GRCm39)		probably null	Het
Trpv2	A	G	11: 62,483,059 (GRCm39)	Y450C	probably damaging	Het
Tut7	T	C	13: 59,948,054 (GRCm39)	T354A	probably benign	Het
Tvp23a	A	T	16: 10,264,862 (GRCm39)	D16E	probably damaging	Het
Twnk	T	C	19: 44,997,850 (GRCm39)	F460L	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Urb2	T	C	8: 124,757,356 (GRCm39)	L1021P	probably damaging	Het
Vps13c	T	C	9: 67,837,993 (GRCm39)	Y1848H	probably damaging	Het
Vwa8	T	G	14: 79,324,121 (GRCm39)	N1141K	probably benign	Het
Yipf3	A	G	17: 46,561,793 (GRCm39)	Y200C	probably damaging	Het
Zbtb38	A	G	9: 96,569,044 (GRCm39)	V680A	probably benign	Het
Znrf3	T	C	11: 5,231,347 (GRCm39)	E722G	probably benign	Het
Zzef1	T	A	11: 72,806,059 (GRCm39)	L2665H	probably damaging	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
R0368:Gabrr3	UTSW	16	59,260,959 (GRCm39)	missense	probably damaging	0.99
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
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'- TCGTACTCACTCATGGCTCCTAAGG -3'
(R):5'- GATTCTACCAACGTTTCCTCCCAGG -3'

Sequencing Primer
(F):5'- AGCTCTTCAGGTTACTCAGAAC -3'
(R):5'- CCAGGGATTTCCTTTTTATCTGAG -3'

Posted On

2014-04-13