Mutagenetix > Incidental Mutation

Incidental Mutation 'R3500:Gabrr1'

273750

Institutional Source

Beutler Lab

Gene Symbol

Gabrr1

Ensembl Gene

ENSMUSG00000028280

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 1

Synonyms

GABA-C

MMRRC Submission

040663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33132556-33163606 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 33158184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029947]

AlphaFold

P56475

Predicted Effect

probably benign
Transcript: ENSMUST00000029947

SMART Domains

Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	69	276	4.8e-53	PFAM
Pfam:Neur_chan_memb	283	402	3.1e-33	PFAM
transmembrane domain	453	472	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display altered visual processing in the retina. Mice homozygous for a different knock-out allele exhibit alterations of mechanical pain sensitivity, GABA-inhibited spinal cord responses, and olfactory function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amhr2	A	G	15: 102,355,501 (GRCm39)	D188G	probably benign	Het
Arl15	G	A	13: 114,104,228 (GRCm39)	E102K	probably damaging	Het
Atp10d	C	T	5: 72,403,066 (GRCm39)	R319C	probably damaging	Het
Cetn4	A	T	3: 37,364,109 (GRCm39)	F34I	probably benign	Het
Chd8	G	T	14: 52,443,110 (GRCm39)	H510N	probably benign	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Clcn1	T	C	6: 42,269,929 (GRCm39)	S251P	probably damaging	Het
Clstn3	A	T	6: 124,408,670 (GRCm39)	C881S	probably benign	Het
Cnot4	G	A	6: 35,057,076 (GRCm39)		probably benign	Het
Copg1	G	A	6: 87,872,905 (GRCm39)		probably benign	Het
Czib	C	T	4: 107,748,710 (GRCm39)	R83W	probably damaging	Het
Eftud2	A	G	11: 102,735,006 (GRCm39)	M631T	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Fancb	A	G	X: 163,779,104 (GRCm39)	T721A	probably damaging	Het
Fat2	A	G	11: 55,151,342 (GRCm39)	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,584,575 (GRCm39)	V173A	possibly damaging	Het
Gata4	C	T	14: 63,437,982 (GRCm39)	G390S	possibly damaging	Het
Gm9396	C	A	3: 129,862,144 (GRCm39)		noncoding transcript	Het
Grid2	T	C	6: 63,480,383 (GRCm39)	S66P	probably damaging	Het
Hdac9	C	A	12: 34,487,352 (GRCm39)	M16I	probably benign	Het
Kmt2c	A	T	5: 25,504,477 (GRCm39)	D3610E	probably benign	Het
Lactb2	A	T	1: 13,730,673 (GRCm39)	M1K	probably null	Het
Ldhb	T	C	6: 142,447,173 (GRCm39)	D47G	probably damaging	Het
Map3k11	A	T	19: 5,740,275 (GRCm39)	M1L	probably benign	Het
Mecom	C	T	3: 30,035,061 (GRCm39)	R205H	probably damaging	Het
Mob1b	A	G	5: 88,897,479 (GRCm39)	D129G	probably benign	Het
Nbea	A	G	3: 55,588,431 (GRCm39)	V2436A	possibly damaging	Het
Neb	T	C	2: 52,215,797 (GRCm39)	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,345,931 (GRCm39)	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,597,952 (GRCm39)	R282*	probably null	Het
Or4c102	A	G	2: 88,422,285 (GRCm39)	T46A	probably damaging	Het
Or4c119	C	T	2: 88,987,403 (GRCm39)	G39R	probably damaging	Het
Or4d10c	A	G	19: 12,065,421 (GRCm39)	V245A	possibly damaging	Het
Or4f47	T	C	2: 111,972,472 (GRCm39)	F61L	possibly damaging	Het
Or52e2	T	C	7: 102,804,297 (GRCm39)	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,630,532 (GRCm39)	L109*	probably null	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Podxl2	T	C	6: 88,819,900 (GRCm39)	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,587,273 (GRCm39)	T252A	probably benign	Het
Pramel6	A	G	2: 87,339,569 (GRCm39)	H111R	probably damaging	Het
Prr19	A	G	7: 25,002,692 (GRCm39)	E130G	probably damaging	Het
Rab44	C	T	17: 29,357,041 (GRCm39)	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,210,531 (GRCm39)	F95L	probably damaging	Het
Sdk1	G	T	5: 141,992,371 (GRCm39)		probably benign	Het
Tas2r122	T	A	6: 132,688,523 (GRCm39)	K123N	probably damaging	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Trpm2	A	G	10: 77,768,136 (GRCm39)	F788L	probably benign	Het
Ttn	G	A	2: 76,560,628 (GRCm39)	L29258F	probably damaging	Het
Ttn	G	T	2: 76,591,509 (GRCm39)	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,690,129 (GRCm39)	I335T	possibly damaging	Het

Other mutations in Gabrr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Gabrr1	APN	4	33,162,634 (GRCm39)	missense	probably benign
IGL02052:Gabrr1	APN	4	33,152,567 (GRCm39)	missense	probably damaging	0.98
IGL02169:Gabrr1	APN	4	33,160,261 (GRCm39)	missense	probably damaging	1.00
IGL02834:Gabrr1	APN	4	33,151,426 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Gabrr1	UTSW	4	33,160,225 (GRCm39)	missense	probably damaging	1.00
R0135:Gabrr1	UTSW	4	33,160,224 (GRCm39)	missense	probably damaging	1.00
R0606:Gabrr1	UTSW	4	33,132,696 (GRCm39)	missense	probably benign	0.30
R0739:Gabrr1	UTSW	4	33,162,781 (GRCm39)	missense	probably benign	0.08
R0843:Gabrr1	UTSW	4	33,161,717 (GRCm39)	missense	possibly damaging	0.93
R1182:Gabrr1	UTSW	4	33,132,680 (GRCm39)	missense	probably benign
R1628:Gabrr1	UTSW	4	33,152,432 (GRCm39)	missense	probably damaging	1.00
R1724:Gabrr1	UTSW	4	33,161,651 (GRCm39)	missense	probably damaging	0.98
R2300:Gabrr1	UTSW	4	33,152,449 (GRCm39)	missense	probably benign	0.01
R2405:Gabrr1	UTSW	4	33,157,110 (GRCm39)	missense	probably damaging	1.00
R3424:Gabrr1	UTSW	4	33,158,058 (GRCm39)	missense	probably damaging	1.00
R4575:Gabrr1	UTSW	4	33,158,175 (GRCm39)	missense	possibly damaging	0.94
R4923:Gabrr1	UTSW	4	33,162,820 (GRCm39)	missense	possibly damaging	0.59
R5686:Gabrr1	UTSW	4	33,161,684 (GRCm39)	missense	probably damaging	0.98
R5941:Gabrr1	UTSW	4	33,162,676 (GRCm39)	missense	probably benign	0.01
R6122:Gabrr1	UTSW	4	33,161,695 (GRCm39)	missense	probably damaging	1.00
R6217:Gabrr1	UTSW	4	33,149,026 (GRCm39)	splice site	probably null
R6232:Gabrr1	UTSW	4	33,161,632 (GRCm39)	missense	probably benign	0.41
R6489:Gabrr1	UTSW	4	33,162,855 (GRCm39)	missense	probably benign	0.02
R6793:Gabrr1	UTSW	4	33,162,712 (GRCm39)	missense	possibly damaging	0.66
R6996:Gabrr1	UTSW	4	33,158,157 (GRCm39)	missense	probably damaging	0.96
R7396:Gabrr1	UTSW	4	33,160,207 (GRCm39)	missense	probably damaging	1.00
R7465:Gabrr1	UTSW	4	33,146,970 (GRCm39)	missense	probably benign
R7597:Gabrr1	UTSW	4	33,148,964 (GRCm39)	missense	probably benign	0.17
R8170:Gabrr1	UTSW	4	33,162,718 (GRCm39)	missense	probably damaging	1.00
R8418:Gabrr1	UTSW	4	33,162,615 (GRCm39)	nonsense	probably null
R8795:Gabrr1	UTSW	4	33,161,756 (GRCm39)	missense	probably damaging	0.98
R8933:Gabrr1	UTSW	4	33,146,972 (GRCm39)	missense	probably benign
R8966:Gabrr1	UTSW	4	33,152,411 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACCAGCCAAGTAGTCTGTG -3'
(R):5'- CCTGATGCATACCACCTACTAG -3'

Sequencing Primer
(F):5'- CAGCCAAGTAGTCTGTGTGGGG -3'
(R):5'- TGATGCATACCACCTACTAGATTTC -3'

Posted On

2015-04-02