Mutagenetix > Incidental Mutation

Incidental Mutation 'R9622:Gabbr2'

724853

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46662318-46991714 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 46724283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107749] [ENSMUST00000205643]

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 benign
Transcript: ENSMUST00000205643

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	G	5: 36,006,889 (GRCm39)	K435E	probably damaging	Het
Acly	T	C	11: 100,395,785 (GRCm39)	T412A	probably damaging	Het
Aldh3b2	T	A	19: 4,029,489 (GRCm39)	D287E	probably benign	Het
Asphd1	G	A	7: 126,547,974 (GRCm39)	P110S		Het
Atg7	T	C	6: 114,654,993 (GRCm39)	L142P	probably benign	Het
Atp13a4	T	C	16: 29,239,277 (GRCm39)	I796V		Het
Bbx	A	G	16: 50,095,022 (GRCm39)	V98A	probably damaging	Het
Brca2	T	C	5: 150,480,410 (GRCm39)	S2727P	probably damaging	Het
Camk1	T	A	6: 113,318,850 (GRCm39)	D21V	possibly damaging	Het
Cdc5l	A	T	17: 45,715,709 (GRCm39)	D634E	probably benign	Het
Cfap418	T	C	4: 10,893,304 (GRCm39)	I141T	possibly damaging	Het
Cyfip1	A	T	7: 55,528,853 (GRCm39)	D275V	possibly damaging	Het
Cyp4a30b	A	G	4: 115,328,162 (GRCm39)	E477G	probably damaging	Het
Cyp4f16	C	T	17: 32,769,246 (GRCm39)	P379S	probably damaging	Het
Dchs2	C	T	3: 83,263,766 (GRCm39)	Q3345*	probably null	Het
Dnaaf1	A	G	8: 120,315,001 (GRCm39)	T270A	possibly damaging	Het
Dnah3	A	G	7: 119,561,356 (GRCm39)	V334A		Het
Dnhd1	T	C	7: 105,353,342 (GRCm39)	F2832L	probably benign	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Eif4enif1	T	C	11: 3,165,714 (GRCm39)	I97T	probably benign	Het
Elmo1	C	G	13: 20,392,310 (GRCm39)	P29A	probably benign	Het
Erich6	G	C	3: 58,544,162 (GRCm39)	P142A	possibly damaging	Het
Fam135b	T	C	15: 71,397,686 (GRCm39)	R125G	probably damaging	Het
Fcrla	T	A	1: 170,749,808 (GRCm39)	H83L	probably damaging	Het
Flt3	C	T	5: 147,303,841 (GRCm39)	E366K	possibly damaging	Het
Gigyf1	T	A	5: 137,522,926 (GRCm39)	L809*	probably null	Het
Glg1	C	T	8: 111,899,133 (GRCm39)	G711R	probably damaging	Het
Gp1bb	T	C	16: 18,439,527 (GRCm39)	E189G	probably benign	Het
H2-Q1	A	T	17: 35,542,532 (GRCm39)	I326F	probably benign	Het
Hoxb3	A	T	11: 96,235,420 (GRCm39)	K116*	probably null	Het
Kcnb1	T	C	2: 167,030,161 (GRCm39)	Y128C	probably damaging	Het
Kif5b	G	A	18: 6,225,672 (GRCm39)	R171C	probably damaging	Het
Lcn4	G	A	2: 26,561,228 (GRCm39)	Q18*	probably null	Het
Lrp1b	G	A	2: 40,779,354 (GRCm39)	Q2677*	probably null	Het
Map4k3	T	A	17: 80,958,538 (GRCm39)	T145S	probably damaging	Het
Mas1	T	C	17: 13,060,898 (GRCm39)	E175G	probably benign	Het
Metap2	T	C	10: 93,707,366 (GRCm39)	T202A	probably benign	Het
Mras	A	T	9: 99,275,054 (GRCm39)	M131K	probably benign	Het
Mtor	T	C	4: 148,568,169 (GRCm39)	V1092A	probably damaging	Het
Mug2	T	C	6: 122,028,751 (GRCm39)	S582P	probably benign	Het
Myo5b	A	G	18: 74,848,017 (GRCm39)	N1085S	probably damaging	Het
Nav3	T	C	10: 109,603,103 (GRCm39)	T1149A	probably benign	Het
Nipbl	A	T	15: 8,366,373 (GRCm39)	S1239T	probably benign	Het
Nkpd1	C	A	7: 19,257,867 (GRCm39)	R549S	probably benign	Het
Or10a3m	T	A	7: 108,312,677 (GRCm39)	M39K	probably benign	Het
Or10p1	G	A	10: 129,444,084 (GRCm39)	H89Y	probably benign	Het
Or1j1	A	G	2: 36,702,621 (GRCm39)	L161P	probably damaging	Het
Or51i2	T	A	7: 103,689,522 (GRCm39)	V173D	probably damaging	Het
Pcdh18	T	C	3: 49,711,229 (GRCm39)	N29D	probably benign	Het
Pdzrn4	T	C	15: 92,294,949 (GRCm39)	W52R	probably benign	Het
Plekhb1	T	C	7: 100,304,588 (GRCm39)	K39E	probably damaging	Het
Pramel28	A	G	4: 143,692,348 (GRCm39)	S218P	probably benign	Het
Psmb4	C	A	3: 94,792,285 (GRCm39)	E212D	probably benign	Het
Rcc1l	A	G	5: 134,205,348 (GRCm39)	L69P	probably damaging	Het
Robo2	T	C	16: 73,729,952 (GRCm39)	R1082G	probably benign	Het
Rorb	T	C	19: 18,955,115 (GRCm39)	Y167C	probably damaging	Het
Sanbr	T	A	11: 23,534,590 (GRCm39)	K589I	probably damaging	Het
Sbsn	GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG	GG	7: 30,452,067 (GRCm39)		probably benign	Het
Scaf8	T	A	17: 3,248,170 (GRCm39)	F1164L	probably benign	Het
Scn10a	A	T	9: 119,438,046 (GRCm39)	M1940K	probably benign	Het
Serpinb2	A	G	1: 107,452,298 (GRCm39)	N292S	probably benign	Het
Sparcl1	C	A	5: 104,234,998 (GRCm39)	V506L	possibly damaging	Het
Stt3a	A	G	9: 36,661,025 (GRCm39)	V262A	possibly damaging	Het
Syt17	C	A	7: 118,036,191 (GRCm39)	M58I	probably benign	Het
Tas2r134	A	C	2: 51,518,358 (GRCm39)	N279T	possibly damaging	Het
Tbc1d2	T	C	4: 46,609,065 (GRCm39)	E724G	probably damaging	Het
Teddm1b	T	A	1: 153,750,620 (GRCm39)	L143Q		Het
Tlk1	T	A	2: 70,617,281 (GRCm39)	R66S	probably damaging	Het
Tmem139	A	T	6: 42,240,176 (GRCm39)		probably null	Het
Tom1l2	T	C	11: 60,151,942 (GRCm39)	Y155C	possibly damaging	Het
Trmt1l	C	A	1: 151,304,710 (GRCm39)	S28*	probably null	Het
Ttf2	T	C	3: 100,859,918 (GRCm39)	I679V	probably benign	Het
Unc13b	T	G	4: 43,172,513 (GRCm39)	F1114V		Het
Vmn2r25	T	A	6: 123,816,579 (GRCm39)	D334V	probably damaging	Het
Vps13c	T	G	9: 67,856,715 (GRCm39)	Y2581D	probably damaging	Het
Xkr5	A	G	8: 18,984,247 (GRCm39)	S432P	probably benign	Het
Zc2hc1b	G	A	10: 13,043,677 (GRCm39)	P73S	possibly damaging	Het
Zfhx2	A	C	14: 55,303,483 (GRCm39)	F1500L	probably benign	Het
Zfp3	T	G	11: 70,662,739 (GRCm39)	S233A	possibly damaging	Het
Zmat5	T	C	11: 4,687,453 (GRCm39)	W169R	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
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
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
R9655:Gabbr2	UTSW	4	46,815,684 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- ATTTGGGTTCAGCACGTGC -3'
(R):5'- TGGCACTAGCTGTCCATAGG -3'

Sequencing Primer
(F):5'- GTCCTAGCATAGGTGGCACTTAC -3'
(R):5'- GTCCATAGGATCAGAATCTGAGTCC -3'

Posted On

2022-09-12