Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Gabbr2'

61106

Institutional Source

Beutler Lab

Gene Symbol

Gabbr2

Ensembl Gene

ENSMUSG00000039809

Gene Name

gamma-aminobutyric acid type B receptor subunit 2

Synonyms

Gababr2, Gpr51, LOC242425, GB2

MMRRC Submission

038870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0685 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

46662318-46991714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46787521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 381 (H381Y)

Ref Sequence

ENSEMBL: ENSMUSP00000103378 (fasta)

Gene Model

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

AlphaFold

Q80T41

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107749
AA Change: H381Y

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: H381Y

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

Meta Mutation Damage Score

0.0873

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,469,337 (GRCm39)	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,353,316 (GRCm39)	T82A	possibly damaging	Het
Adgre4	A	C	17: 56,099,035 (GRCm39)	E180D	probably benign	Het
Ankrd28	G	A	14: 31,465,407 (GRCm39)		probably benign	Het
Aoc3	A	G	11: 101,227,273 (GRCm39)	D382G	possibly damaging	Het
Apob	C	A	12: 8,060,742 (GRCm39)	R3075S	probably benign	Het
Aqr	A	G	2: 113,971,458 (GRCm39)	F459S	probably damaging	Het
Bcr	T	C	10: 74,967,475 (GRCm39)	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,787,895 (GRCm39)	R163K	probably benign	Het
Bod1	A	T	11: 31,619,267 (GRCm39)	N101K	possibly damaging	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Chl1	G	A	6: 103,685,503 (GRCm39)		probably null	Het
Clstn1	G	A	4: 149,731,312 (GRCm39)	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,935,356 (GRCm39)	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,623,626 (GRCm39)	V3633A	probably damaging	Het
Dynlt5	T	C	4: 102,859,735 (GRCm39)	Y96H	probably damaging	Het
Elp4	C	A	2: 105,622,622 (GRCm39)	C241F	possibly damaging	Het
Fat4	T	A	3: 39,055,327 (GRCm39)	F4182Y	probably benign	Het
Gm10577	G	T	4: 100,877,515 (GRCm39)		probably benign	Het
Gm9955	G	T	18: 24,842,314 (GRCm39)		probably benign	Het
Gstm5	T	A	3: 107,804,635 (GRCm39)	I73N	probably damaging	Het
Gypa	T	A	8: 81,223,331 (GRCm39)		probably benign	Het
Hectd2	T	A	19: 36,546,831 (GRCm39)	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,657,543 (GRCm39)	Y20N	probably benign	Het
Il15	T	C	8: 83,064,188 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kiz	C	A	2: 146,697,978 (GRCm39)		probably benign	Het
Lcmt2	C	A	2: 120,969,721 (GRCm39)	S234I	probably benign	Het
Lilra5	A	G	7: 4,244,956 (GRCm39)		probably benign	Het
Lin37	T	C	7: 30,255,299 (GRCm39)	E187G	probably damaging	Het
Lrrc37	T	C	11: 103,507,714 (GRCm39)		probably benign	Het
Mcmdc2	T	A	1: 9,982,039 (GRCm39)		probably null	Het
Mctp1	T	C	13: 76,973,918 (GRCm39)		probably null	Het
Mdp1	C	A	14: 55,896,726 (GRCm39)	G112*	probably null	Het
Mmp15	T	C	8: 96,098,762 (GRCm39)	Y530H	possibly damaging	Het
Mtss2	T	C	8: 111,454,029 (GRCm39)		probably null	Het
Muc5ac	T	C	7: 141,361,446 (GRCm39)	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,883,757 (GRCm39)	C66S	possibly damaging	Het
Ninl	G	T	2: 150,781,775 (GRCm39)	Q1237K	possibly damaging	Het
Or5p70	A	T	7: 107,994,470 (GRCm39)	T48S	possibly damaging	Het
Or9m1b	T	C	2: 87,836,762 (GRCm39)	E111G	probably damaging	Het
Orc6	T	G	8: 86,027,783 (GRCm39)	S37R	possibly damaging	Het
Papss1	A	C	3: 131,288,854 (GRCm39)	N119H	possibly damaging	Het
Phf13	A	T	4: 152,076,069 (GRCm39)	F278I	probably damaging	Het
Pole2	C	A	12: 69,258,187 (GRCm39)	A239S	probably damaging	Het
Ppt2	T	C	17: 34,845,546 (GRCm39)	D75G	probably damaging	Het
Psd2	A	G	18: 36,136,044 (GRCm39)	D443G	possibly damaging	Het
Psen1	C	A	12: 83,761,594 (GRCm39)	S132*	probably null	Het
Psme4	A	G	11: 30,828,415 (GRCm39)	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,797,535 (GRCm39)		probably benign	Het
Reep3	A	G	10: 66,857,518 (GRCm39)		probably benign	Het
Rexo4	A	T	2: 26,848,586 (GRCm39)		probably benign	Het
Rnf6	A	C	5: 146,148,468 (GRCm39)	S183R	probably damaging	Het
Scai	A	T	2: 38,993,749 (GRCm39)	M297K	probably damaging	Het
Scn9a	A	T	2: 66,313,843 (GRCm39)	S1947R	probably benign	Het
Sema6c	T	C	3: 95,080,021 (GRCm39)	C772R	possibly damaging	Het
Skint7	T	C	4: 111,837,542 (GRCm39)	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,448,715 (GRCm39)	N420D	probably benign	Het
Smc1b	T	C	15: 84,955,021 (GRCm39)	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,742,399 (GRCm39)	P82L	probably damaging	Het
Sp3	A	C	2: 72,801,342 (GRCm39)	F268V	probably damaging	Het
Srms	T	C	2: 180,854,426 (GRCm39)	D47G	probably benign	Het
Ss18	A	C	18: 14,784,238 (GRCm39)	M150R	probably damaging	Het
Taf5	G	A	19: 47,063,293 (GRCm39)	R281Q	probably benign	Het
Tars1	T	C	15: 11,385,259 (GRCm39)	K644R	probably benign	Het
Tinag	C	A	9: 76,859,285 (GRCm39)	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,312,738 (GRCm39)	S244G	probably benign	Het
Tpr	T	C	1: 150,309,476 (GRCm39)	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,187,640 (GRCm39)		probably benign	Het
Uhrf1	G	T	17: 56,617,742 (GRCm39)	V155L	probably damaging	Het
Ush2a	G	A	1: 188,132,475 (GRCm39)	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,578,249 (GRCm39)	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,577,434 (GRCm39)	D368G	probably benign	Het
Vps13a	A	G	19: 16,758,105 (GRCm39)	V10A	probably damaging	Het
Wbp11	A	G	6: 136,791,636 (GRCm39)		probably benign	Het
Zcwpw1	A	G	5: 137,797,854 (GRCm39)	D145G	probably benign	Het
Zfp607a	G	A	7: 27,577,901 (GRCm39)	V324I	probably damaging	Het
Zfp618	A	G	4: 63,052,011 (GRCm39)	I931V	probably benign	Het
Zfp821	T	C	8: 110,451,174 (GRCm39)	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,263,141 (GRCm39)	H232L	probably damaging	Het

Other mutations in Gabbr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Gabbr2	APN	4	46,787,600 (GRCm39)	missense	probably damaging	1.00
IGL00844:Gabbr2	APN	4	46,875,711 (GRCm39)	missense	probably damaging	1.00
IGL01584:Gabbr2	APN	4	46,674,524 (GRCm39)	missense	probably damaging	0.97
IGL01684:Gabbr2	APN	4	46,736,501 (GRCm39)	missense	probably benign
IGL01884:Gabbr2	APN	4	46,875,711 (GRCm39)	missense	probably damaging	1.00
IGL02073:Gabbr2	APN	4	46,667,547 (GRCm39)	missense	probably benign	0.00
IGL02376:Gabbr2	APN	4	46,684,300 (GRCm39)	missense	probably damaging	1.00
R0194:Gabbr2	UTSW	4	46,787,565 (GRCm39)	missense	possibly damaging	0.48
R0627:Gabbr2	UTSW	4	46,681,223 (GRCm39)	missense	possibly damaging	0.92
R0781:Gabbr2	UTSW	4	46,718,838 (GRCm39)	missense	probably damaging	1.00
R0882:Gabbr2	UTSW	4	46,718,904 (GRCm39)	missense	probably damaging	1.00
R0883:Gabbr2	UTSW	4	46,677,474 (GRCm39)	missense	probably benign	0.00
R1004:Gabbr2	UTSW	4	46,677,544 (GRCm39)	missense	possibly damaging	0.60
R1078:Gabbr2	UTSW	4	46,664,833 (GRCm39)	missense	probably damaging	0.99
R1110:Gabbr2	UTSW	4	46,718,838 (GRCm39)	missense	probably damaging	1.00
R1368:Gabbr2	UTSW	4	46,674,464 (GRCm39)	missense	probably benign	0.31
R1557:Gabbr2	UTSW	4	46,846,436 (GRCm39)	missense	probably damaging	1.00
R1577:Gabbr2	UTSW	4	46,684,319 (GRCm39)	missense	probably benign	0.29
R1645:Gabbr2	UTSW	4	46,664,963 (GRCm39)	splice site	probably null
R1743:Gabbr2	UTSW	4	46,677,603 (GRCm39)	missense	possibly damaging	0.47
R1848:Gabbr2	UTSW	4	46,739,823 (GRCm39)	missense	probably benign	0.31
R1997:Gabbr2	UTSW	4	46,787,502 (GRCm39)	missense	probably damaging	1.00
R2009:Gabbr2	UTSW	4	46,734,119 (GRCm39)	missense	probably damaging	1.00
R4021:Gabbr2	UTSW	4	46,846,435 (GRCm39)	missense	probably damaging	1.00
R4719:Gabbr2	UTSW	4	46,718,797 (GRCm39)	missense	probably damaging	0.99
R4757:Gabbr2	UTSW	4	46,875,675 (GRCm39)	missense	probably damaging	0.98
R4798:Gabbr2	UTSW	4	46,991,139 (GRCm39)	missense	possibly damaging	0.92
R5086:Gabbr2	UTSW	4	46,724,342 (GRCm39)	missense	probably damaging	1.00
R5176:Gabbr2	UTSW	4	46,681,208 (GRCm39)	missense	probably damaging	0.99
R5451:Gabbr2	UTSW	4	46,684,294 (GRCm39)	missense	probably benign	0.15
R5510:Gabbr2	UTSW	4	46,734,113 (GRCm39)	missense	probably damaging	1.00
R5611:Gabbr2	UTSW	4	46,804,105 (GRCm39)	missense	probably damaging	0.98
R6049:Gabbr2	UTSW	4	46,787,641 (GRCm39)	missense	probably damaging	1.00
R6089:Gabbr2	UTSW	4	46,846,448 (GRCm39)	missense	probably damaging	1.00
R6118:Gabbr2	UTSW	4	46,736,459 (GRCm39)	missense	probably damaging	1.00
R6209:Gabbr2	UTSW	4	46,804,069 (GRCm39)	missense	probably damaging	1.00
R6212:Gabbr2	UTSW	4	46,681,189 (GRCm39)	missense	probably damaging	0.98
R6717:Gabbr2	UTSW	4	46,787,574 (GRCm39)	missense	possibly damaging	0.50
R7339:Gabbr2	UTSW	4	46,846,340 (GRCm39)	missense	probably benign	0.01
R7479:Gabbr2	UTSW	4	46,681,166 (GRCm39)	missense	probably damaging	0.98
R7695:Gabbr2	UTSW	4	46,875,687 (GRCm39)	missense	probably damaging	1.00
R7808:Gabbr2	UTSW	4	46,875,744 (GRCm39)	missense	possibly damaging	0.49
R7832:Gabbr2	UTSW	4	46,734,096 (GRCm39)	missense	probably benign	0.04
R7993:Gabbr2	UTSW	4	46,736,349 (GRCm39)	splice site	probably null
R7994:Gabbr2	UTSW	4	46,736,349 (GRCm39)	splice site	probably null
R8051:Gabbr2	UTSW	4	46,736,349 (GRCm39)	splice site	probably null
R8084:Gabbr2	UTSW	4	46,736,349 (GRCm39)	splice site	probably null
R9050:Gabbr2	UTSW	4	46,798,659 (GRCm39)	missense	probably benign	0.03
R9187:Gabbr2	UTSW	4	46,674,533 (GRCm39)	missense	probably damaging	1.00
R9622:Gabbr2	UTSW	4	46,724,283 (GRCm39)	critical splice donor site	probably null
R9655:Gabbr2	UTSW	4	46,815,684 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AGCACTGTCCCCATTCAGTTCAAAG -3'
(R):5'- GCGTTTCCAGACTCCACAGCAATAC -3'

Sequencing Primer
(F):5'- TGTTTCCCCAGAGAAAGAGC -3'
(R):5'- GACTCCACAGCAATACGAAAGAG -3'

Posted On

2013-07-30