Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Gabbr2'

431131

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

043071-MU

Accession Numbers

Essential gene?

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

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46662318-46991714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46734113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 535 (L535P)

Ref Sequence

ENSEMBL: ENSMUSP00000103378 (fasta)

Gene Model

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

AlphaFold

Q80T41

Predicted Effect

probably damaging
Transcript: ENSMUST00000107749
AA Change: L535P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103378
Gene: ENSMUSG00000039809
AA Change: L535P

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

0.9582

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	G	3: 151,203,467 (GRCm39)	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,593,363 (GRCm39)	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,843,347 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,779,693 (GRCm39)	V392A	probably benign	Het
Ap2b1	A	G	11: 83,227,563 (GRCm39)		probably null	Het
Arsg	A	G	11: 109,418,700 (GRCm39)	E232G	probably benign	Het
Axdnd1	A	G	1: 156,162,920 (GRCm39)	F144S	probably benign	Het
Bud13	T	A	9: 46,203,498 (GRCm39)	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,012 (GRCm39)	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046 (GRCm39)	T1194A	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,911,290 (GRCm39)	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,406,024 (GRCm39)	W176R	probably damaging	Het
Cenpf	A	T	1: 189,415,100 (GRCm39)	D136E	probably benign	Het
Dclk2	T	C	3: 86,813,344 (GRCm39)	I201V	possibly damaging	Het
Defa24	T	A	8: 22,224,612 (GRCm39)	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,095,039 (GRCm39)	N566D	probably damaging	Het
Dido1	C	A	2: 180,326,966 (GRCm39)	V386L	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,028,807 (GRCm39)	P141S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Gimap3	T	A	6: 48,742,183 (GRCm39)	E249V	possibly damaging	Het
Git2	A	T	5: 114,881,835 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,745 (GRCm39)	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,700,045 (GRCm39)	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,389,118 (GRCm39)	G31S	possibly damaging	Het
Herc2	A	T	7: 55,856,519 (GRCm39)	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 32,165,721 (GRCm39)	R134C	unknown	Het
Igf1r	G	C	7: 67,843,107 (GRCm39)	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,658,443 (GRCm39)	E102G	probably damaging	Het
Kif1a	T	G	1: 92,969,414 (GRCm39)	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,705,821 (GRCm39)	L245S	probably damaging	Het
Med17	A	G	9: 15,181,700 (GRCm39)	S17P	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps18b	A	G	17: 36,225,215 (GRCm39)		probably benign	Het
Ms4a8a	A	G	19: 11,056,828 (GRCm39)	S85P	probably benign	Het
Msln	T	C	17: 25,968,847 (GRCm39)	Q487R	probably benign	Het
Myh13	A	G	11: 67,228,549 (GRCm39)	N363S	probably benign	Het
Myo6	T	C	9: 80,152,942 (GRCm39)	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,634,383 (GRCm39)	D688G	probably damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or12d15	A	T	17: 37,694,192 (GRCm39)	M245L	probably benign	Het
Or1j16	G	A	2: 36,530,975 (GRCm39)	R308K	probably benign	Het
Or5p70	G	A	7: 107,994,332 (GRCm39)	A2T	probably benign	Het
Phf11a	C	A	14: 59,516,834 (GRCm39)	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,874,275 (GRCm39)	C520Y	probably benign	Het
Plxna4	C	A	6: 32,155,293 (GRCm39)	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,571,397 (GRCm39)	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,085,488 (GRCm39)	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,357,393 (GRCm39)		probably null	Het
Prss55	T	A	14: 64,314,574 (GRCm39)	M199L	probably damaging	Het
Qrich1	G	A	9: 108,433,659 (GRCm39)	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,842,005 (GRCm39)	V47A	probably damaging	Het
Raph1	A	T	1: 60,562,105 (GRCm39)		probably benign	Het
Rgs12	T	C	5: 35,123,383 (GRCm39)	Y389H	probably damaging	Het
Sec24b	C	A	3: 129,834,544 (GRCm39)	G82V	probably damaging	Het
Sema4a	A	G	3: 88,357,293 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,361 (GRCm39)	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,244,551 (GRCm39)	S340A	probably benign	Het
Slc32a1	T	A	2: 158,456,716 (GRCm39)	M457K	probably damaging	Het
Spata31d1e	T	C	13: 59,890,234 (GRCm39)		probably null	Het
Spint4	C	T	2: 164,542,812 (GRCm39)	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,472,228 (GRCm39)	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,490,738 (GRCm39)	G863D	probably damaging	Het
Tmem156	G	A	5: 65,232,917 (GRCm39)	T151M	probably benign	Het
Trip12	T	C	1: 84,746,401 (GRCm39)	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,605,095 (GRCm39)	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 9,836,545 (GRCm39)	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 84,801,023 (GRCm39)	D304E	probably benign	Het
Wdr93	T	A	7: 79,399,779 (GRCm39)	F123I	probably damaging	Het
Zfp672	A	T	11: 58,207,456 (GRCm39)	C288*	probably null	Het
Zp1	T	C	19: 10,896,769 (GRCm39)	Y90C	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
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'- TCAGACACAGGCACTTCTGTC -3'
(R):5'- TCATCAGCCTGGAAGTGGAC -3'

Sequencing Primer
(F):5'- AGGCACTTCTGTCTGGGC -3'
(R):5'- TGGAAGTGGACCGGCTC -3'

Posted On

2016-10-05