Mutagenetix > Incidental Mutation

Incidental Mutation 'R8673:Gabrr3'

661276

Institutional Source

Beutler Lab

Gene Symbol

Gabrr3

Ensembl Gene

ENSMUSG00000074991

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 3

Synonyms

MMRRC Submission

068528-MU

Accession Numbers

Essential gene?

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

Stock #

R8673 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59227745-59282102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59235633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 45 (M45R)

Ref Sequence

ENSEMBL: ENSMUSP00000109980 (fasta)

Gene Model

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

AlphaFold

B2RXA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114341
AA Change: M45R

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: M45R

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (50/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Anxa9	C	T	3: 95,207,657 (GRCm39)	R250Q	probably benign	Het
Apaf1	A	G	10: 90,831,530 (GRCm39)	S1195P	probably damaging	Het
Baiap2l1	T	A	5: 144,212,852 (GRCm39)		probably benign	Het
Bpifb6	G	T	2: 153,747,212 (GRCm39)	C172F	probably damaging	Het
Ccdc9	A	T	7: 16,018,286 (GRCm39)	D7E	probably damaging	Het
Cdcp3	A	T	7: 130,844,846 (GRCm39)	I580F	probably damaging	Het
Chchd6	T	A	6: 89,546,380 (GRCm39)	S109C	probably damaging	Het
Cltc	G	A	11: 86,648,201 (GRCm39)		probably benign	Het
Col4a6	G	A	X: 140,017,173 (GRCm39)	P60L	probably damaging	Het
Cxxc1	C	T	18: 74,351,915 (GRCm39)	T264I	probably benign	Het
D5Ertd579e	A	G	5: 36,830,151 (GRCm39)	S58P	probably benign	Het
Dlgap1	T	A	17: 71,122,293 (GRCm39)	H907Q	probably damaging	Het
Dnah2	A	T	11: 69,405,523 (GRCm39)	M663K	probably benign	Het
Dock8	G	A	19: 25,160,867 (GRCm39)	M1791I	probably damaging	Het
Esd	T	C	14: 74,969,952 (GRCm39)	F8S	probably benign	Het
Etnk2	T	C	1: 133,302,300 (GRCm39)	Y273H	probably damaging	Het
Fry	C	A	5: 150,318,576 (GRCm39)	H935Q	possibly damaging	Het
Gata4	T	C	14: 63,478,258 (GRCm39)	T114A	probably benign	Het
Gcnt4	G	A	13: 97,082,997 (GRCm39)	D98N	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igkv1-99	C	T	6: 68,519,387 (GRCm39)	Q115*	probably null	Het
Irak3	G	T	10: 119,982,493 (GRCm39)	T323K	possibly damaging	Het
Lrp2	T	C	2: 69,302,804 (GRCm39)	D2975G	probably damaging	Het
Mybph	T	A	1: 134,126,142 (GRCm39)	W319R	probably damaging	Het
Nell1	A	G	7: 49,869,343 (GRCm39)	D206G	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,114,658 (GRCm39)	D8V	probably benign	Het
Or4c105	T	C	2: 88,647,590 (GRCm39)	V25A	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,581 (GRCm39)	I85T	probably benign	Het
Pex1	A	C	5: 3,685,886 (GRCm39)	D1209A	possibly damaging	Het
Phf10	T	C	17: 15,170,868 (GRCm39)	D355G	probably benign	Het
Psmd2	T	C	16: 20,475,638 (GRCm39)	S413P	probably damaging	Het
Ptgir	G	T	7: 16,641,287 (GRCm39)	C193F	probably damaging	Het
Rad21l	A	G	2: 151,502,718 (GRCm39)	I164T	possibly damaging	Het
Ralgapb	G	A	2: 158,292,133 (GRCm39)	R773H	probably damaging	Het
Rasgef1b	G	T	5: 99,370,844 (GRCm39)	N385K	probably damaging	Het
Shank3	C	T	15: 89,433,979 (GRCm39)	R1575C	probably damaging	Het
Slc7a2	G	T	8: 41,365,446 (GRCm39)		probably benign	Het
Spata1	T	A	3: 146,181,079 (GRCm39)	N293I	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Sphkap	T	C	1: 83,253,561 (GRCm39)	H1396R	probably benign	Het
Spire2	A	G	8: 124,086,867 (GRCm39)	E446G	probably damaging	Het
Tdpoz2	A	T	3: 93,558,918 (GRCm39)	C351*	probably null	Het
Thoc5	G	A	11: 4,876,061 (GRCm39)	V605I	possibly damaging	Het
Ttll2	C	T	17: 7,619,340 (GRCm39)	V196I	possibly damaging	Het
Uba6	A	G	5: 86,284,178 (GRCm39)	Y576H	probably damaging	Het
Vegfb	G	A	19: 6,962,812 (GRCm39)	P188L	unknown	Het
Vmn1r62	A	G	7: 5,678,277 (GRCm39)		probably benign	Het
Vmn2r73	T	A	7: 85,521,902 (GRCm39)	T146S	probably benign	Het
Wdr64	A	G	1: 175,633,584 (GRCm39)	Y945C	probably damaging	Het
Zfp870	C	T	17: 33,101,904 (GRCm39)	C475Y	probably damaging	Het
Zfp958	A	T	8: 4,678,268 (GRCm39)	T98S	possibly 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
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
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'- CTCCAAGTCAGAGTCACTTTCTAGT -3'
(R):5'- TGGTTCTAATTGCTTCCAATTTTCA -3'

Sequencing Primer
(F):5'- GTAAGCAGCATCCCTCCATGG -3'
(R):5'- CAATTTTCAGTGCCATCGTGAG -3'

Posted On

2021-03-08