Mutagenetix > Incidental Mutation

Incidental Mutation 'R1645:Gabbr2'

173800

Institutional Source

Beutler Lab

Gene Symbol

Gabbr2

Ensembl Gene

ENSMUSG00000039809

Gene Name

gamma-aminobutyric acid (GABA) B receptor, 2

Synonyms

Gpr51, Gababr2, LOC242425

MMRRC Submission

039681-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46662305-46991873 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 46664963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107749] [ENSMUST00000107749] [ENSMUST00000107749] [ENSMUST00000107749]

AlphaFold

Q80T41

Predicted Effect

probably null
Transcript: ENSMUST00000107749

SMART Domains

Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:Peripla_BP_6	59	434	1.5e-15	PFAM
Pfam:ANF_receptor	75	429	2e-51	PFAM
Pfam:7tm_3	492	745	6.4e-57	PFAM
PDB:4PAS\|B	778	818	1e-18	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107749

SMART Domains

Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:Peripla_BP_6	59	434	1.5e-15	PFAM
Pfam:ANF_receptor	75	429	2e-51	PFAM
Pfam:7tm_3	492	745	6.4e-57	PFAM
PDB:4PAS\|B	778	818	1e-18	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107749

SMART Domains

Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:Peripla_BP_6	59	434	1.5e-15	PFAM
Pfam:ANF_receptor	75	429	2e-51	PFAM
Pfam:7tm_3	492	745	6.4e-57	PFAM
PDB:4PAS\|B	778	818	1e-18	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000107749

SMART Domains

Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:Peripla_BP_6	59	434	1.5e-15	PFAM
Pfam:ANF_receptor	75	429	2e-51	PFAM
Pfam:7tm_3	492	745	6.4e-57	PFAM
PDB:4PAS\|B	778	818	1e-18	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129328

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutation of this gene results in clonic seizures, hyperactivity, hyperalgesia in response to thermal or mechanical stimuli, increased anxiety, and decreased depression-related behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,155,277	M1732V	probably benign	Het
Acvr1	A	T	2: 58,462,899	C350S	probably damaging	Het
Adgrl2	A	T	3: 148,865,608	V130D	probably damaging	Het
Anapc1	A	G	2: 128,658,246		probably null	Het
Asap1	A	T	15: 64,089,475	V1116E	probably damaging	Het
Bcas1	T	A	2: 170,387,167	D308V	probably damaging	Het
Brca1	G	A	11: 101,510,053	H1468Y	probably benign	Het
C2cd5	A	G	6: 143,050,126	C421R	probably damaging	Het
C4b	A	G	17: 34,740,597	S363P	probably damaging	Het
Camk2b	A	T	11: 5,972,719	C484S	probably damaging	Het
Ccny	T	C	18: 9,345,199	T192A	probably damaging	Het
Chl1	G	T	6: 103,683,180	A356S	probably benign	Het
Dst	T	A	1: 34,225,722	Y4850N	probably damaging	Het
Dyrk4	C	A	6: 126,894,793	E171*	probably null	Het
Ephb1	A	G	9: 101,927,559	Y928H	probably damaging	Het
Fam114a2	A	T	11: 57,499,795	N304K	probably benign	Het
Fam189b	C	A	3: 89,186,847	D322E	possibly damaging	Het
Fras1	A	T	5: 96,700,586	D1820V	possibly damaging	Het
Gm6358	T	C	16: 89,141,079	W69R	unknown	Het
Ikbkb	C	A	8: 22,691,066	S127I	probably damaging	Het
Impa1	A	T	3: 10,328,441	M48K	possibly damaging	Het
Klra2	A	T	6: 131,243,894		probably null	Het
Lama1	A	T	17: 67,737,682	Y192F	probably benign	Het
Lama2	T	A	10: 27,368,985	T267S	probably damaging	Het
Mroh7	G	A	4: 106,720,668	T271I	probably benign	Het
Myo9b	A	G	8: 71,322,978	E348G	probably damaging	Het
Nrp2	C	T	1: 62,785,124	P796L	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr120	A	T	17: 37,726,338	T114S	probably benign	Het
Olfr640	A	G	7: 104,022,003	F105S	probably damaging	Het
Olfr827	T	A	10: 130,210,212	D306V	probably damaging	Het
P3h2	T	A	16: 25,997,232	H177L	probably damaging	Het
Pcdhb16	T	C	18: 37,479,370	I461T	probably benign	Het
Pdlim3	A	G	8: 45,896,748	I32V	probably benign	Het
Pigu	A	C	2: 155,328,678	Y143*	probably null	Het
Prkd3	A	C	17: 78,956,520		probably null	Het
Psrc1	C	T	3: 108,385,238	R116W	probably damaging	Het
Rab5b	A	G	10: 128,686,826	S29P	possibly damaging	Het
Rbm26	A	G	14: 105,150,817	V403A	probably damaging	Het
Rbm47	G	T	5: 66,027,138	R41S	probably benign	Het
Rngtt	A	G	4: 33,362,939	I364M	probably damaging	Het
Ryr2	A	T	13: 11,718,482	C2271*	probably null	Het
Shcbp1	T	A	8: 4,749,645	Q277L	probably benign	Het
Sntg1	T	C	1: 8,803,931	T5A	probably benign	Het
Snx24	T	C	18: 53,389,562	F163S	probably benign	Het
Spert	C	A	14: 75,583,649	R212L	probably benign	Het
Srp72	T	C	5: 76,998,278	V581A	probably benign	Het
Srrt	T	A	5: 137,302,139	K59*	probably null	Het
Tnrc6b	A	G	15: 80,882,958	T975A	probably damaging	Het
Vmn1r174	G	A	7: 23,754,352	V148I	possibly damaging	Het
Vmn2r115	T	A	17: 23,346,218	C360S	possibly damaging	Het
Vwa8	A	T	14: 79,182,987	Q1709H	probably damaging	Het
Wdr11	A	G	7: 129,613,889	T526A	probably benign	Het
Zfp532	C	A	18: 65,687,264	N973K	probably benign	Het

Other mutations in Gabbr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Gabbr2	APN	4	46787600	missense	probably damaging	1.00
IGL00844:Gabbr2	APN	4	46875711	missense	probably damaging	1.00
IGL01584:Gabbr2	APN	4	46674524	missense	probably damaging	0.97
IGL01684:Gabbr2	APN	4	46736501	missense	probably benign
IGL01884:Gabbr2	APN	4	46875711	missense	probably damaging	1.00
IGL02073:Gabbr2	APN	4	46667547	missense	probably benign	0.00
IGL02376:Gabbr2	APN	4	46684300	missense	probably damaging	1.00
R0194:Gabbr2	UTSW	4	46787565	missense	possibly damaging	0.48
R0627:Gabbr2	UTSW	4	46681223	missense	possibly damaging	0.92
R0685:Gabbr2	UTSW	4	46787521	missense	possibly damaging	0.64
R0781:Gabbr2	UTSW	4	46718838	missense	probably damaging	1.00
R0882:Gabbr2	UTSW	4	46718904	missense	probably damaging	1.00
R0883:Gabbr2	UTSW	4	46677474	missense	probably benign	0.00
R1004:Gabbr2	UTSW	4	46677544	missense	possibly damaging	0.60
R1078:Gabbr2	UTSW	4	46664833	missense	probably damaging	0.99
R1110:Gabbr2	UTSW	4	46718838	missense	probably damaging	1.00
R1368:Gabbr2	UTSW	4	46674464	missense	probably benign	0.31
R1557:Gabbr2	UTSW	4	46846436	missense	probably damaging	1.00
R1577:Gabbr2	UTSW	4	46684319	missense	probably benign	0.29
R1743:Gabbr2	UTSW	4	46677603	missense	possibly damaging	0.47
R1848:Gabbr2	UTSW	4	46739823	missense	probably benign	0.31
R1997:Gabbr2	UTSW	4	46787502	missense	probably damaging	1.00
R2009:Gabbr2	UTSW	4	46734119	missense	probably damaging	1.00
R4021:Gabbr2	UTSW	4	46846435	missense	probably damaging	1.00
R4719:Gabbr2	UTSW	4	46718797	missense	probably damaging	0.99
R4757:Gabbr2	UTSW	4	46875675	missense	probably damaging	0.98
R4798:Gabbr2	UTSW	4	46991139	missense	possibly damaging	0.92
R5086:Gabbr2	UTSW	4	46724342	missense	probably damaging	1.00
R5176:Gabbr2	UTSW	4	46681208	missense	probably damaging	0.99
R5451:Gabbr2	UTSW	4	46684294	missense	probably benign	0.15
R5510:Gabbr2	UTSW	4	46734113	missense	probably damaging	1.00
R5611:Gabbr2	UTSW	4	46804105	missense	probably damaging	0.98
R6049:Gabbr2	UTSW	4	46787641	missense	probably damaging	1.00
R6089:Gabbr2	UTSW	4	46846448	missense	probably damaging	1.00
R6118:Gabbr2	UTSW	4	46736459	missense	probably damaging	1.00
R6209:Gabbr2	UTSW	4	46804069	missense	probably damaging	1.00
R6212:Gabbr2	UTSW	4	46681189	missense	probably damaging	0.98
R6717:Gabbr2	UTSW	4	46787574	missense	possibly damaging	0.50
R7339:Gabbr2	UTSW	4	46846340	missense	probably benign	0.01
R7479:Gabbr2	UTSW	4	46681166	missense	probably damaging	0.98
R7695:Gabbr2	UTSW	4	46875687	missense	probably damaging	1.00
R7808:Gabbr2	UTSW	4	46875744	missense	possibly damaging	0.49
R7832:Gabbr2	UTSW	4	46734096	missense	probably benign	0.04
R7993:Gabbr2	UTSW	4	46736349	splice site	probably null
R7994:Gabbr2	UTSW	4	46736349	splice site	probably null
R8051:Gabbr2	UTSW	4	46736349	splice site	probably null
R8084:Gabbr2	UTSW	4	46736349	splice site	probably null
R9050:Gabbr2	UTSW	4	46798659	missense	probably benign	0.03
R9187:Gabbr2	UTSW	4	46674533	missense	probably damaging	1.00
R9622:Gabbr2	UTSW	4	46724283	critical splice donor site	probably null
R9655:Gabbr2	UTSW	4	46815684	missense	possibly damaging	0.69

Predicted Primers

Posted On

2014-04-24