Mutagenetix > Incidental Mutation

Incidental Mutation 'R7465:Gabrr1'

578686

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

045539-MU

Accession Numbers

Essential gene?

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

Stock #

R7465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33132556-33163606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33146970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 52 (D52E)

Ref Sequence

ENSEMBL: ENSMUSP00000029947 (fasta)

Gene Model

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

AlphaFold

P56475

Predicted Effect

probably benign
Transcript: ENSMUST00000029947
AA Change: D52E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: D52E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	T	13: 30,565,964 (GRCm39)	D343V	probably benign	Het
Anks1	G	A	17: 28,273,297 (GRCm39)	R972Q	possibly damaging	Het
Atp2a2	T	C	5: 122,599,763 (GRCm39)	K543E	probably benign	Het
Atp8b5	G	A	4: 43,271,269 (GRCm39)	V4I	probably benign	Het
Bcar3	A	T	3: 122,316,879 (GRCm39)	N617Y	probably benign	Het
Blm	A	G	7: 80,162,863 (GRCm39)	S163P	probably benign	Het
Cbx3	A	G	6: 51,455,510 (GRCm39)	D87G	probably benign	Het
Celsr1	A	G	15: 85,917,593 (GRCm39)	S127P	probably benign	Het
Cndp1	A	T	18: 84,637,666 (GRCm39)	M356K	probably damaging	Het
Cnn2	G	A	10: 79,828,361 (GRCm39)	E113K	probably damaging	Het
Col17a1	T	A	19: 47,656,544 (GRCm39)	R573*	probably null	Het
Cttnbp2	T	A	6: 18,501,991 (GRCm39)	E49V	probably damaging	Het
Dipk1a	T	C	5: 108,057,550 (GRCm39)	D336G	probably damaging	Het
Dynlrb2	T	A	8: 117,241,696 (GRCm39)	V80E	possibly damaging	Het
Ehbp1	A	G	11: 22,088,001 (GRCm39)	V386A	probably benign	Het
Elfn1	C	T	5: 139,957,842 (GRCm39)	P282L	probably benign	Het
Fan1	G	A	7: 64,003,386 (GRCm39)	T812I	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat1	G	A	8: 45,497,189 (GRCm39)	V4225I	probably benign	Het
Frem1	A	G	4: 82,833,072 (GRCm39)	C1873R	probably benign	Het
Fsd1l	T	C	4: 53,647,755 (GRCm39)	I66T	probably benign	Het
Il18rap	T	C	1: 40,582,249 (GRCm39)	L390P	probably damaging	Het
Il27ra	T	A	8: 84,766,241 (GRCm39)	D181V	probably benign	Het
Irgq	C	A	7: 24,233,834 (GRCm39)	H558Q	probably damaging	Het
Itsn2	C	T	12: 4,756,983 (GRCm39)	Q1358*	probably null	Het
Kmt2c	C	T	5: 25,507,847 (GRCm39)	G3197S	probably damaging	Het
Lrrk2	A	G	15: 91,651,543 (GRCm39)	Y1733C	probably damaging	Het
Mapk7	G	A	11: 61,381,279 (GRCm39)	A510V	probably damaging	Het
Mtch1	A	T	17: 29,551,698 (GRCm39)	C385S	probably benign	Het
Nfib	A	G	4: 82,271,758 (GRCm39)		probably null	Het
Nostrin	C	T	2: 69,015,851 (GRCm39)	T448M	possibly damaging	Het
Or12j4	T	A	7: 140,046,711 (GRCm39)	V199D	probably damaging	Het
Or4c12b	T	C	2: 89,646,880 (GRCm39)	L64P	probably damaging	Het
Or52e18	A	G	7: 104,609,124 (GRCm39)	Y272H	probably benign	Het
Or5a3	T	A	19: 12,400,509 (GRCm39)	Y279N	probably damaging	Het
Or5an10	T	C	19: 12,275,801 (GRCm39)	I232V	probably benign	Het
Or8k28	A	G	2: 86,286,150 (GRCm39)	V155A	probably benign	Het
Pcdha2	T	C	18: 37,073,383 (GRCm39)	V338A	probably damaging	Het
Pcdhgc3	A	G	18: 37,940,798 (GRCm39)	T400A	probably benign	Het
Piezo2	C	T	18: 63,145,794 (GRCm39)	S2710N	probably benign	Het
Ppp4r1	T	A	17: 66,138,015 (GRCm39)	Y591*	probably null	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rab42	T	C	4: 132,029,925 (GRCm39)	E99G	possibly damaging	Het
Rd3l	A	T	12: 111,945,916 (GRCm39)	W188R	probably damaging	Het
Sap30bp	A	G	11: 115,842,794 (GRCm39)	D89G	probably benign	Het
Sptbn4	T	C	7: 27,066,114 (GRCm39)	T1985A	probably benign	Het
Tec	T	C	5: 72,931,223 (GRCm39)	Y247C	probably damaging	Het
Tek	G	A	4: 94,716,063 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,405,256 (GRCm39)	S723P	possibly damaging	Het
Thumpd3	T	A	6: 113,024,592 (GRCm39)	L62Q	probably damaging	Het
Tlr12	A	T	4: 128,509,963 (GRCm39)	D762E	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Txndc16	T	A	14: 45,402,845 (GRCm39)	I316F	probably damaging	Het
Vamp1	T	C	6: 125,195,538 (GRCm39)	S2P	unknown	Het
Vmn1r211	T	A	13: 23,036,086 (GRCm39)	M194L	probably benign	Het
Zfp874a	T	A	13: 67,590,376 (GRCm39)	Q436L	probably 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
R3500:Gabrr1	UTSW	4	33,158,184 (GRCm39)	splice site	probably benign
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
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'- ATCAGACCAGATTAATGCGTTGAG -3'
(R):5'- GTTAGGCAACCAGCTTGTTCC -3'

Sequencing Primer
(F):5'- GCGTTGAGCCTTCTTCCC -3'
(R):5'- AGCTTGTTCCCTGAAAGCAG -3'

Posted On

2019-10-07