Mutagenetix > Incidental Mutation

Incidental Mutation 'R8933:Gabrr1'

680429

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

068709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8933 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33132556-33163606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33146972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 53 (D53V)

Ref Sequence

ENSEMBL: ENSMUSP00000029947 (fasta)

Gene Model

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

AlphaFold

P56475

Predicted Effect

probably benign
Transcript: ENSMUST00000029947
AA Change: D53V

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

SMART Domains

Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: D53V

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: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,786 (GRCm39)	I1114N	probably damaging	Het
Ache	C	A	5: 137,288,449 (GRCm39)	R52S	possibly damaging	Het
AI182371	A	T	2: 34,975,714 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,406,325 (GRCm39)	S1453G	probably damaging	Het
Arvcf	A	G	16: 18,218,845 (GRCm39)	N508S	probably damaging	Het
Aurkc	A	C	7: 7,005,796 (GRCm39)	D136A	possibly damaging	Het
Bfsp2	A	G	9: 103,325,848 (GRCm39)	M265T	probably benign	Het
Bmpr1b	T	C	3: 141,562,369 (GRCm39)	T273A	probably damaging	Het
Cacnb1	T	C	11: 97,896,578 (GRCm39)	K406R	probably damaging	Het
Calcoco2	C	T	11: 95,998,252 (GRCm39)		probably benign	Het
Capza1	T	C	3: 104,748,209 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,251,265 (GRCm39)	I382F	probably damaging	Het
Cep350	A	T	1: 155,739,161 (GRCm39)	N2227K	probably benign	Het
Chia1	T	A	3: 106,036,333 (GRCm39)	Y304*	probably null	Het
Col5a2	G	A	1: 45,461,123 (GRCm39)	P258L		Het
Cyp21a1	A	G	17: 35,023,285 (GRCm39)	L30P	probably damaging	Het
Dennd4b	T	A	3: 90,186,523 (GRCm39)	H1351Q	probably benign	Het
Dnah9	T	A	11: 65,746,078 (GRCm39)	I4012F	possibly damaging	Het
Drd1	A	G	13: 54,207,290 (GRCm39)	I301T	possibly damaging	Het
Dzip1	T	A	14: 119,144,326 (GRCm39)	H369L	probably damaging	Het
Fgfrl1	T	A	5: 108,851,257 (GRCm39)	M58K	probably damaging	Het
Ftsj3	G	T	11: 106,141,660 (GRCm39)	D529E	probably benign	Het
Fut9	A	T	4: 25,619,861 (GRCm39)	W318R	probably damaging	Het
Gabrg3	A	G	7: 56,634,706 (GRCm39)	I159T	probably damaging	Het
Ggps1	A	G	13: 14,228,928 (GRCm39)	V85A	probably benign	Het
Gm5141	C	T	13: 62,924,854 (GRCm39)	W18*	probably null	Het
Grik5	T	A	7: 24,722,743 (GRCm39)	T518S	probably benign	Het
Hapln3	A	T	7: 78,767,378 (GRCm39)		probably benign	Het
Hbs1l	C	T	10: 21,243,584 (GRCm39)	Q646*	probably null	Het
Hmox1	T	C	8: 75,823,644 (GRCm39)	I104T	probably benign	Het
Ifit1bl1	T	C	19: 34,571,413 (GRCm39)	Y348C	probably damaging	Het
Igf2r	A	T	17: 12,920,131 (GRCm39)	S1403T	probably damaging	Het
Igf2r	G	A	17: 12,923,524 (GRCm39)	T1186M	probably damaging	Het
Igfbp1	T	C	11: 7,148,333 (GRCm39)		probably null	Het
Ikbip	C	A	10: 90,919,092 (GRCm39)	A35E	probably benign	Het
Isca1	C	T	13: 59,917,497 (GRCm39)	A8T	probably damaging	Het
Itgb2	T	C	10: 77,401,022 (GRCm39)	L754P	probably damaging	Het
Itgb6	C	T	2: 60,458,247 (GRCm39)	C502Y	probably damaging	Het
Kdm3a	A	G	6: 71,577,092 (GRCm39)	V741A	probably benign	Het
Kdsr	T	C	1: 106,680,949 (GRCm39)	D83G	possibly damaging	Het
Kiz	T	A	2: 146,784,037 (GRCm39)	N523K		Het
Kmt2a	T	C	9: 44,733,802 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,064 (GRCm39)	E191G	probably benign	Het
Lipn	A	G	19: 34,046,880 (GRCm39)	I61V	probably damaging	Het
Lmbr1l	T	A	15: 98,807,150 (GRCm39)		probably null	Het
Lrrc4c	A	G	2: 97,459,826 (GRCm39)	K151E	probably benign	Het
Mab21l3	T	C	3: 101,730,774 (GRCm39)	Q155R	probably benign	Het
Mtfr2	G	A	10: 20,233,274 (GRCm39)	R281H	possibly damaging	Het
Muc5ac	A	G	7: 141,343,493 (GRCm39)	Y35C	possibly damaging	Het
Myadm	C	T	7: 3,345,433 (GRCm39)	T65I	probably benign	Het
Nap1l1	T	C	10: 111,328,710 (GRCm39)	V213A	probably benign	Het
Nav2	A	G	7: 49,111,705 (GRCm39)	D737G	probably damaging	Het
Ndst4	T	A	3: 125,405,155 (GRCm39)	V470D	probably damaging	Het
Nek5	T	A	8: 22,601,226 (GRCm39)	Y165F	probably damaging	Het
Nek5	A	T	8: 22,610,859 (GRCm39)	V48E	probably damaging	Het
Nr6a1	T	C	2: 38,650,400 (GRCm39)	I77V	probably damaging	Het
Nvl	A	T	1: 180,966,638 (GRCm39)	D93E	probably benign	Het
Or11a4	C	A	17: 37,536,346 (GRCm39)	T110K	possibly damaging	Het
Or2q1	A	G	6: 42,794,950 (GRCm39)	T182A	probably benign	Het
Or52e5	A	G	7: 104,718,599 (GRCm39)		probably benign	Het
Or52k2	A	T	7: 102,253,637 (GRCm39)	L25F	probably damaging	Het
Or52p1	A	T	7: 104,266,873 (GRCm39)	T4S	probably benign	Het
Or6c68	A	T	10: 129,158,259 (GRCm39)	I256F	probably damaging	Het
Pla2g4c	G	A	7: 13,073,627 (GRCm39)	V225I	probably benign	Het
Plppr4	T	A	3: 117,116,690 (GRCm39)	N331I	probably damaging	Het
Ptpn13	A	G	5: 103,727,671 (GRCm39)	R2051G	probably benign	Het
Rbm45	T	C	2: 76,209,068 (GRCm39)	S346P	probably damaging	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Slc15a1	C	T	14: 121,724,091 (GRCm39)	G172R	probably benign	Het
Slco3a1	G	T	7: 73,934,248 (GRCm39)	Y641*	probably null	Het
Srcap	G	A	7: 127,151,566 (GRCm39)	R2027H	probably damaging	Het
Stra8	A	T	6: 34,904,624 (GRCm39)		probably benign	Het
Syt11	T	C	3: 88,655,011 (GRCm39)	Y430C	probably damaging	Het
Tanc1	T	G	2: 59,615,800 (GRCm39)	V269G	possibly damaging	Het
Tead1	A	G	7: 112,497,818 (GRCm39)	N342S	probably benign	Het
Tenm3	C	T	8: 48,732,095 (GRCm39)	A1254T	possibly damaging	Het
Txlnb	A	T	10: 17,682,546 (GRCm39)	N156I	probably damaging	Het
Ufl1	A	T	4: 25,262,258 (GRCm39)	S409R	possibly damaging	Het
Usp17la	A	G	7: 104,510,307 (GRCm39)	H304R	probably benign	Het
Vmn1r203	T	A	13: 22,708,691 (GRCm39)	H157Q	possibly damaging	Het
Vmn1r37	C	T	6: 66,709,231 (GRCm39)	R249*	probably null	Het
Vmn2r96	A	G	17: 18,804,241 (GRCm39)	Q497R	probably benign	Het
Vps39	A	G	2: 120,169,066 (GRCm39)	S292P	probably benign	Het
Wnk1	A	G	6: 120,013,959 (GRCm39)	V212A	probably damaging	Het
Xbp1	T	C	11: 5,474,741 (GRCm39)	V161A	probably benign	Het
Zfp113	T	C	5: 138,143,092 (GRCm39)	Q386R	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
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
R8966:Gabrr1	UTSW	4	33,152,411 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCATCAGACCAGATTAATGCGTTG -3'
(R):5'- TAGGCAACCAGCTTGTTCCC -3'

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

Posted On

2021-08-31