Mutagenetix > Incidental Mutation

Incidental Mutation 'R9001:Gabrr3'

684995

Institutional Source

Beutler Lab

Gene Symbol

Gabrr3

Ensembl Gene

ENSMUSG00000074991

Gene Name

gamma-aminobutyric acid (GABA) receptor, rho 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R9001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59407332-59464504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59461645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 454 (I454M)

Ref Sequence

ENSEMBL: ENSMUSP00000109980 (fasta)

Gene Model

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

AlphaFold

B2RXA8

Predicted Effect

probably benign
Transcript: ENSMUST00000114341
AA Change: I454M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: I454M

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (51/51)

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
1700001K19Rik	T	C	12: 110,670,742	R26G	probably damaging	Het
Aldh1a2	A	G	9: 71,285,180	N439S	probably damaging	Het
Arfgef3	C	T	10: 18,646,728	E517K	probably benign	Het
Arhgap29	A	T	3: 121,981,874	I89L	probably benign	Het
Btbd3	G	A	2: 138,280,376	V149I	possibly damaging	Het
Chst5	T	A	8: 111,889,902	H362L	probably benign	Het
Cmtm2a	A	G	8: 104,292,744	V71A	probably benign	Het
Col6a4	T	A	9: 106,067,171	I1035F	probably benign	Het
Csmd2	T	C	4: 128,414,286	V1279A		Het
Csmd3	A	T	15: 47,733,505	V1068E		Het
Ddx50	T	C	10: 62,639,949	Y331C	probably benign	Het
Dhx30	A	G	9: 110,087,555	Y631H	probably damaging	Het
Dnah10	G	A	5: 124,775,451	G1915S	probably damaging	Het
Dopey1	A	G	9: 86,554,321	*2463W	probably null	Het
Dst	G	T	1: 34,174,211	V1395F	possibly damaging	Het
Dzip1l	T	C	9: 99,641,854		probably null	Het
Eef1akmt3	T	C	10: 127,041,363	E11G	probably benign	Het
Elfn2	A	G	15: 78,673,238	F370L	probably benign	Het
Enam	T	A	5: 88,489,529	F104Y	probably benign	Het
Esd	A	G	14: 74,745,683	E258G	probably benign	Het
Fam181b	G	A	7: 93,081,149	A377T	unknown	Het
Ggt5	T	A	10: 75,610,158	V462D	probably benign	Het
Gm11238	A	T	4: 73,657,043	R320*	probably null	Het
Gm3250	T	C	10: 77,782,344	S67G	unknown	Het
Grn	A	T	11: 102,436,671	Y286F		Het
Gulp1	A	G	1: 44,788,549	I284V	probably benign	Het
Ilf2	A	G	3: 90,482,801	N140S	probably benign	Het
Ints4	C	A	7: 97,541,069	P925Q	possibly damaging	Het
Khdc1b	A	G	1: 21,384,336	N88D	possibly damaging	Het
Kif15	T	G	9: 122,997,790	C798G	probably benign	Het
Ktn1	T	A	14: 47,672,952	V285E	probably damaging	Het
Lrif1	A	G	3: 106,734,544	S59G	probably benign	Het
Mpdz	A	G	4: 81,381,762	M333T	probably benign	Het
Mrm3	A	G	11: 76,250,408	D414G	probably benign	Het
Mtpap	A	G	18: 4,380,831	N170D	probably benign	Het
Nelfb	C	A	2: 25,206,275	R274L	probably damaging	Het
Olfr681	T	G	7: 105,122,240	V261G	probably damaging	Het
Pkm	A	G	9: 59,665,343	N44S	probably benign	Het
Rel	T	C	11: 23,748,855	D144G	probably damaging	Het
Scgb2b21	A	T	7: 33,519,531		probably benign	Het
Serpinb1b	T	A	13: 33,093,760	D325E	probably benign	Het
Slco4c1	A	G	1: 96,821,231	C654R	probably damaging	Het
Srgap2	T	C	1: 131,364,060	K143R	probably damaging	Het
Szt2	G	A	4: 118,378,332	H2034Y	unknown	Het
Thbs2	T	C	17: 14,668,745	D1164G	probably damaging	Het
Tnfrsf10b	T	C	14: 69,777,801	S243P	possibly damaging	Het
Tnxb	T	A	17: 34,703,436	S2408T	probably benign	Het
Topors	A	T	4: 40,261,696	D529E	possibly damaging	Het
Trmt5	T	C	12: 73,284,869	M138V	probably benign	Het
Vmn2r81	A	G	10: 79,268,270	I242M	possibly damaging	Het
Zfp523	A	G	17: 28,189,941	Q21R	possibly damaging	Het
Zfp646	T	A	7: 127,879,684	N344K	probably damaging	Het

Other mutations in Gabrr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02816:Gabrr3	APN	16	59440467	splice site	probably benign
IGL02989:Gabrr3	APN	16	59448008	missense	probably damaging	0.98
IGL03048:Gabrr3	UTSW	16	59430130	missense	probably benign	0.00
PIT4791001:Gabrr3	UTSW	16	59429935	critical splice acceptor site	probably null
R0368:Gabrr3	UTSW	16	59440596	missense	probably damaging	0.99
R0976:Gabrr3	UTSW	16	59461524	missense	probably benign	0.34
R1104:Gabrr3	UTSW	16	59461635	missense	probably damaging	0.98
R1231:Gabrr3	UTSW	16	59461400	missense	probably benign	0.01
R1556:Gabrr3	UTSW	16	59461400	missense	probably benign	0.01
R2181:Gabrr3	UTSW	16	59448009	missense	probably damaging	0.98
R2185:Gabrr3	UTSW	16	59434668	missense	probably damaging	1.00
R2336:Gabrr3	UTSW	16	59429950	missense	probably damaging	1.00
R3941:Gabrr3	UTSW	16	59433501	missense	probably damaging	1.00
R4572:Gabrr3	UTSW	16	59461638	missense	probably benign	0.09
R4747:Gabrr3	UTSW	16	59447914	splice site	probably null
R4786:Gabrr3	UTSW	16	59430100	missense	probably benign	0.44
R4845:Gabrr3	UTSW	16	59426470	missense	probably damaging	0.99
R5539:Gabrr3	UTSW	16	59461395	missense	probably benign
R5543:Gabrr3	UTSW	16	59433507	missense	probably damaging	1.00
R5979:Gabrr3	UTSW	16	59434568	missense	possibly damaging	0.81
R6211:Gabrr3	UTSW	16	59448108	missense	probably benign
R7338:Gabrr3	UTSW	16	59448076	missense	possibly damaging	0.70
R7456:Gabrr3	UTSW	16	59407490	nonsense	probably null
R8673:Gabrr3	UTSW	16	59415270	missense	possibly damaging	0.55
R9139:Gabrr3	UTSW	16	59407467	missense	probably benign	0.12
R9378:Gabrr3	UTSW	16	59461674	missense	possibly damaging	0.78
Z1176:Gabrr3	UTSW	16	59407482	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTACACTCAGAAGAGGACTCC -3'
(R):5'- AGACATGACTGGCTCTATCCC -3'

Sequencing Primer
(F):5'- TCCATGAGTACAAAGTTCACAGG -3'
(R):5'- TTAACTGTCCAACTCATATCCAGGG -3'

Posted On

2021-10-11