Mutagenetix > Incidental Mutation

Incidental Mutation 'R4575:Gabrr1'

499983

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

041798-MU

Accession Numbers

Essential gene?

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

Stock #

R4575 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33132556-33163606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33158175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 266 (T266I)

Ref Sequence

ENSEMBL: ENSMUSP00000029947 (fasta)

Gene Model

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

AlphaFold

P56475

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029947
AA Change: T266I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: T266I

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: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	C	T	7: 130,964,325 (GRCm39)	A26T	probably benign	Het
4930408O17Rik	C	A	12: 104,837,527 (GRCm39)		noncoding transcript	Het
Adgrf3	T	A	5: 30,407,255 (GRCm39)	M224L	probably benign	Het
Ago3	T	C	4: 126,240,475 (GRCm39)	H129R	probably benign	Het
Aoc1l1	C	T	6: 48,954,502 (GRCm39)	Q547*	probably null	Het
Asb10	C	T	5: 24,745,052 (GRCm39)	R99H	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bltp3a	T	C	17: 28,106,477 (GRCm39)	V1001A	probably benign	Het
Ccdc96	T	C	5: 36,643,419 (GRCm39)	V475A	possibly damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clec4b2	T	A	6: 123,150,639 (GRCm39)	L16Q	probably damaging	Het
Cyp2c68	T	A	19: 39,722,805 (GRCm39)	I248L	probably benign	Het
Cyp2d22	G	T	15: 82,256,133 (GRCm39)	A167E	possibly damaging	Het
Dpysl3	T	C	18: 43,475,312 (GRCm39)	K382R	probably damaging	Het
Dscam	A	G	16: 96,626,823 (GRCm39)	I362T	possibly damaging	Het
Edil3	T	C	13: 89,467,850 (GRCm39)	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,254,896 (GRCm39)	Q507R	probably damaging	Het
Frem3	A	G	8: 81,342,704 (GRCm39)	T1666A	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Gm11563	G	A	11: 99,549,275 (GRCm39)	P160S	unknown	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Haus8	A	G	8: 71,715,736 (GRCm39)	V34A	probably damaging	Het
Hgf	T	C	5: 16,777,599 (GRCm39)	Y199H	probably benign	Het
Ide	G	A	19: 37,249,604 (GRCm39)	P916L	unknown	Het
Igsf10	G	T	3: 59,237,521 (GRCm39)	H887N	probably benign	Het
Iigp1	A	T	18: 60,523,218 (GRCm39)	H112L	probably benign	Het
Impg2	A	G	16: 56,082,095 (GRCm39)	E1009G	probably damaging	Het
Khdc1a	A	C	1: 21,420,653 (GRCm39)	D91A	probably damaging	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Kprp	T	C	3: 92,731,271 (GRCm39)	N593S	probably benign	Het
Krt1c	T	G	15: 101,722,921 (GRCm39)	D359A	probably damaging	Het
Krt35	A	T	11: 99,986,725 (GRCm39)	N96K	probably benign	Het
Lnx1	T	C	5: 74,846,204 (GRCm39)	D82G	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Nol6	T	C	4: 41,120,299 (GRCm39)	I473V	probably benign	Het
Obscn	T	C	11: 59,013,598 (GRCm39)	D1108G	probably damaging	Het
Or52m2	A	T	7: 102,263,976 (GRCm39)	C73*	probably null	Het
Or7g12	C	A	9: 18,900,001 (GRCm39)	S239*	probably null	Het
Otop1	T	C	5: 38,457,065 (GRCm39)	Y275H	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Prr14l	T	C	5: 32,950,988 (GRCm39)	E1935G	probably damaging	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rfc4	T	A	16: 22,933,179 (GRCm39)		probably benign	Het
Rpn2	C	A	2: 157,137,244 (GRCm39)	A209E	probably damaging	Het
Sf1	T	C	19: 6,425,943 (GRCm39)		probably benign	Het
Sft2d1rt	T	C	11: 45,942,679 (GRCm39)	D148G	probably damaging	Het
Skint5	T	A	4: 113,524,390 (GRCm39)	S864C	unknown	Het
Slc2a10	C	G	2: 165,358,241 (GRCm39)	N455K	probably damaging	Het
Snrnp200	T	A	2: 127,076,986 (GRCm39)	I1673N	probably benign	Het
Sri	G	T	5: 8,113,693 (GRCm39)	G152W	probably damaging	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Vmn2r125	T	A	4: 156,702,272 (GRCm39)	D19E	probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	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
R3500:Gabrr1	UTSW	4	33,158,184 (GRCm39)	splice site	probably benign
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'- AGCCAAGTAGTCTGTGTGGG -3'
(R):5'- CTGATGCATACCACCTACTAGATTTC -3'

Sequencing Primer
(F):5'- GGACACAGAGGTCACACAGC -3'
(R):5'- CATTTAGGTCCAGTTTCAAAGGC -3'

Posted On

2017-11-30