Mutagenetix > Incidental Mutation

Incidental Mutation 'R4757:Gabbr2'

358218

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

041973-MU

Accession Numbers

Essential gene?

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

Stock #

R4757 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46662318-46991714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46875675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 149 (N149S)

Ref Sequence

ENSEMBL: ENSMUSP00000103378 (fasta)

Gene Model

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

AlphaFold

Q80T41

Predicted Effect

probably damaging
Transcript: ENSMUST00000107749
AA Change: N149S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: N149S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Abcb1a	T	A	5: 8,787,632 (GRCm39)	V978D	probably damaging	Het
Acsm4	T	C	7: 119,297,900 (GRCm39)	V179A	probably benign	Het
Agtr1a	C	A	13: 30,565,842 (GRCm39)	Y302*	probably null	Het
Akap9	T	C	5: 4,058,382 (GRCm39)	I1677T	probably damaging	Het
Ankk1	T	A	9: 49,327,230 (GRCm39)	M650L	probably benign	Het
Apod	T	A	16: 31,122,280 (GRCm39)	N65Y	probably damaging	Het
Bcl2l1	T	A	2: 152,624,178 (GRCm39)	N197Y	possibly damaging	Het
Brpf1	A	T	6: 113,292,072 (GRCm39)	I373F	probably damaging	Het
Car13	T	C	3: 14,726,615 (GRCm39)	V257A	probably damaging	Het
Ccdc150	A	T	1: 54,317,874 (GRCm39)	H271L	possibly damaging	Het
Cit	T	A	5: 116,135,608 (GRCm39)	I1836N	probably damaging	Het
Clec12b	A	G	6: 129,357,655 (GRCm39)	S68P	probably damaging	Het
Col4a4	A	G	1: 82,506,187 (GRCm39)	F298L	unknown	Het
Crct1	G	A	3: 92,922,093 (GRCm39)	Q15*	probably null	Het
Creld1	A	G	6: 113,469,208 (GRCm39)	E346G	probably benign	Het
Ctnnal1	T	A	4: 56,847,980 (GRCm39)	H53L	probably damaging	Het
Cyb5d1	T	C	11: 69,285,814 (GRCm39)	D74G	probably damaging	Het
Deptor	A	T	15: 55,075,674 (GRCm39)	S293C	probably damaging	Het
Dnajb12	A	G	10: 59,728,592 (GRCm39)	S187G	probably benign	Het
Duoxa2	G	T	2: 122,131,072 (GRCm39)	V78L	possibly damaging	Het
Fem1al	A	T	11: 29,775,454 (GRCm39)	M1K	probably null	Het
Fhod1	C	A	8: 106,074,443 (GRCm39)		probably benign	Het
Foxf2	C	T	13: 31,810,172 (GRCm39)	P37L	unknown	Het
Gckr	G	T	5: 31,464,728 (GRCm39)	M344I	possibly damaging	Het
Herc6	G	A	6: 57,577,045 (GRCm39)		probably null	Het
Igf1	A	T	10: 87,751,287 (GRCm39)	E161V	probably benign	Het
Ighv8-13	T	A	12: 115,729,268 (GRCm39)		probably benign	Het
Igkv6-14	A	T	6: 70,412,426 (GRCm39)	L12*	probably null	Het
Kpnb1	C	T	11: 97,068,160 (GRCm39)	S270N	possibly damaging	Het
Lingo1	A	G	9: 56,527,209 (GRCm39)	V460A	probably benign	Het
Lsm6	T	C	8: 79,539,711 (GRCm39)		probably null	Het
Mccc1	C	T	3: 36,050,066 (GRCm39)	G42E	probably benign	Het
Mga	A	G	2: 119,734,120 (GRCm39)	K323E	possibly damaging	Het
Mks1	A	G	11: 87,753,850 (GRCm39)	*562W	probably null	Het
Mrgpra4	T	A	7: 47,630,686 (GRCm39)	E305V	probably damaging	Het
Msh4	T	A	3: 153,585,024 (GRCm39)	H360L	probably damaging	Het
Mthfsd	C	T	8: 121,825,737 (GRCm39)		probably null	Het
Myl12a	A	T	17: 71,303,798 (GRCm39)	F26L	possibly damaging	Het
Nedd4l	A	G	18: 65,298,676 (GRCm39)	S343G	probably damaging	Het
Nlgn1	T	A	3: 25,490,332 (GRCm39)	D465V	probably damaging	Het
Nlgn1	C	T	3: 25,490,507 (GRCm39)	V407I	possibly damaging	Het
Npsr1	T	C	9: 24,046,064 (GRCm39)	V61A	probably benign	Het
Nrxn2	A	G	19: 6,559,851 (GRCm39)	D160G	probably damaging	Het
Or2p2	T	C	13: 21,256,715 (GRCm39)	Y252C	probably damaging	Het
Or52d3	T	C	7: 104,229,404 (GRCm39)	Y184H	possibly damaging	Het
Or5b107	A	C	19: 13,143,277 (GRCm39)	S300R	probably benign	Het
Or5b113	G	T	19: 13,342,810 (GRCm39)	A273S	probably benign	Het
Or9g4	A	G	2: 85,504,664 (GRCm39)	F277S	probably damaging	Het
Pbx1	C	A	1: 168,023,450 (GRCm39)	R235L	probably damaging	Het
Pcnx4	T	C	12: 72,603,067 (GRCm39)	V443A	probably benign	Het
Pde7b	T	C	10: 20,423,688 (GRCm39)	T63A	probably benign	Het
Phf3	C	T	1: 30,859,908 (GRCm39)	G873D	probably damaging	Het
Phox2b	A	T	5: 67,256,197 (GRCm39)	Y30N	probably damaging	Het
Plch2	T	A	4: 155,080,690 (GRCm39)	I599F	possibly damaging	Het
Plekha8	A	G	6: 54,599,213 (GRCm39)	E249G	probably benign	Het
Pou2af1	T	A	9: 51,144,439 (GRCm39)	Y118N	possibly damaging	Het
Ppp3cc	T	A	14: 70,455,635 (GRCm39)	K489N	possibly damaging	Het
Sema4b	T	C	7: 79,866,577 (GRCm39)	L219P	probably damaging	Het
Slc6a5	T	G	7: 49,609,030 (GRCm39)	V745G	probably benign	Het
Slf2	A	G	19: 44,923,497 (GRCm39)	M104V	probably benign	Het
Slx1b	A	G	7: 126,291,701 (GRCm39)	V121A	probably benign	Het
Speer4e2	T	A	5: 15,026,222 (GRCm39)	H145L	probably benign	Het
Spen	T	A	4: 141,200,390 (GRCm39)	K2746*	probably null	Het
Stxbp5l	T	C	16: 37,008,996 (GRCm39)	Y681C	probably damaging	Het
Sv2b	T	C	7: 74,773,918 (GRCm39)	T518A	probably benign	Het
Tgm7	A	T	2: 120,926,870 (GRCm39)	H426Q	possibly damaging	Het
Tlx2	A	G	6: 83,046,900 (GRCm39)	F54S	probably benign	Het
Trp53bp2	A	T	1: 182,286,339 (GRCm39)	M1060L	probably benign	Het
Trpv5	T	A	6: 41,630,148 (GRCm39)	E647D	probably damaging	Het
Tut1	G	T	19: 8,936,672 (GRCm39)	K165N	possibly damaging	Het
Tyro3	A	G	2: 119,641,419 (GRCm39)	K543E	probably damaging	Het
Vmn2r69	T	A	7: 85,061,575 (GRCm39)	Y133F	probably damaging	Het
Zfhx4	T	A	3: 5,465,122 (GRCm39)	V1785D	possibly damaging	Het
Zfp451	A	G	1: 33,804,939 (GRCm39)	L1037P	probably damaging	Het
Zscan29	A	T	2: 120,991,392 (GRCm39)	F799I	possibly 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
R0685:Gabbr2	UTSW	4	46,787,521 (GRCm39)	missense	possibly damaging	0.64
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
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'- CTAGGGAGTCAGCAGTGAAC -3'
(R):5'- TTGCCCCAGGATAACCCATG -3'

Sequencing Primer
(F):5'- AGCAGTGAACACCGAGGCTC -3'
(R):5'- GGATAACCCATGTCTAACTTAGGC -3'

Posted On

2015-11-11