Mutagenetix > Incidental Mutation

Incidental Mutation 'R3892:Gabrr2'

309965

Institutional Source

Beutler Lab

Gene Symbol

Gabrr2

Ensembl Gene

ENSMUSG00000023267

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 2

Synonyms

MMRRC Submission

040804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33062999-33095865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33081348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 4 (Y4C)

Ref Sequence

ENSEMBL: ENSMUSP00000118514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024035] [ENSMUST00000108162] [ENSMUST00000131920]

AlphaFold

P56476

Predicted Effect

probably damaging
Transcript: ENSMUST00000024035
AA Change: Y128C

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

SMART Domains

Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: Y128C

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	81	286	3.4e-53	PFAM
Pfam:Neur_chan_memb	293	454	1.9e-32	PFAM
transmembrane domain	472	489	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108162
AA Change: Y103C

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

SMART Domains

Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: Y103C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Neur_chan_LBD	57	261	9.7e-57	PFAM
Pfam:Neur_chan_memb	268	414	4.2e-36	PFAM
transmembrane domain	447	464	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131920
AA Change: Y4C

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

SMART Domains

Protein: ENSMUSP00000118514
Gene: ENSMUSG00000023267
AA Change: Y4C

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	162	3.3e-46	PFAM
Pfam:Neur_chan_memb	169	204	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147889

SMART Domains

Protein: ENSMUSP00000114337
Gene: ENSMUSG00000023267

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	107	7.1e-28	PFAM
Pfam:Neur_chan_memb	114	219	1.1e-33	PFAM

Meta Mutation Damage Score

0.3116

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
BC061237	A	G	14: 44,738,730 (GRCm39)	D43G	probably benign	Het
Bckdhb	A	C	9: 83,870,863 (GRCm39)	E124D	probably damaging	Het
Card6	T	C	15: 5,128,778 (GRCm39)	T873A	probably benign	Het
Cbs	C	A	17: 31,835,048 (GRCm39)	C476F	probably benign	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Cd248	C	T	19: 5,119,534 (GRCm39)	P461S	probably damaging	Het
Cdh16	T	C	8: 105,342,959 (GRCm39)	Y19C	probably damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Cnnm2	T	A	19: 46,750,232 (GRCm39)	C7*	probably null	Het
Ctnnb1	T	G	9: 120,779,580 (GRCm39)		probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Dnah12	A	G	14: 26,578,573 (GRCm39)	M491V	probably benign	Het
Eftud2	A	C	11: 102,737,013 (GRCm39)	I590S	probably damaging	Het
Ep300	T	C	15: 81,504,198 (GRCm39)		probably benign	Het
Fam209	A	G	2: 172,314,618 (GRCm39)	K36E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Flg	A	T	3: 93,186,833 (GRCm39)	Q95L	probably benign	Het
Ggcx	G	A	6: 72,395,355 (GRCm39)	V149M	probably damaging	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
H2-M10.1	T	A	17: 36,635,281 (GRCm39)	Q250L	possibly damaging	Het
Hecw2	A	T	1: 53,965,280 (GRCm39)	N515K	probably benign	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Klf5	T	A	14: 99,536,509 (GRCm39)	F27I	probably benign	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lrrc14b	T	C	13: 74,511,787 (GRCm39)	S98G	probably benign	Het
Lrrc7	A	G	3: 157,866,333 (GRCm39)	V1136A	probably benign	Het
Map3k11	G	T	19: 5,752,311 (GRCm39)	C831F	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Myd88	T	C	9: 119,166,882 (GRCm39)	D225G	possibly damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or4f15	A	C	2: 111,813,486 (GRCm39)	M311R	probably benign	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	probably benign	Het
Plxna4	C	A	6: 32,192,589 (GRCm39)	D791Y	probably damaging	Het
Pole	T	G	5: 110,484,305 (GRCm39)	I320M	probably damaging	Het
Psg23	G	T	7: 18,345,966 (GRCm39)	T243N	probably damaging	Het
Ptma-ps1	A	G	7: 23,763,543 (GRCm39)		noncoding transcript	Het
Ptprk	A	T	10: 28,139,617 (GRCm39)	Q114L	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rabgef1	A	G	5: 130,237,520 (GRCm39)		probably benign	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sacs	T	G	14: 61,441,836 (GRCm39)	I1294R	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Snrnp48	G	A	13: 38,401,365 (GRCm39)	S204N	possibly damaging	Het
Sp3	A	G	2: 72,809,376 (GRCm39)		probably benign	Het
St8sia6	G	A	2: 13,677,335 (GRCm39)	H161Y	probably benign	Het
Strip2	A	T	6: 29,917,074 (GRCm39)		probably benign	Het
Trank1	T	C	9: 111,193,827 (GRCm39)	V617A	probably benign	Het
Uvssa	T	A	5: 33,547,096 (GRCm39)	S221T	probably benign	Het
Vmn2r75	A	T	7: 85,813,494 (GRCm39)	L436Q	probably null	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	Het
Zfp407	C	T	18: 84,578,477 (GRCm39)	V879I	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	probably benign	Het

Other mutations in Gabrr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Gabrr2	APN	4	33,085,626 (GRCm39)	missense	probably damaging	1.00
IGL02070:Gabrr2	APN	4	33,095,340 (GRCm39)	nonsense	probably null
IGL03283:Gabrr2	APN	4	33,082,364 (GRCm39)	splice site	probably benign
D3080:Gabrr2	UTSW	4	33,084,466 (GRCm39)	missense	probably damaging	1.00
R1250:Gabrr2	UTSW	4	33,063,273 (GRCm39)	missense	probably benign	0.20
R1381:Gabrr2	UTSW	4	33,081,420 (GRCm39)	missense	probably damaging	1.00
R1630:Gabrr2	UTSW	4	33,085,647 (GRCm39)	missense	probably damaging	1.00
R1782:Gabrr2	UTSW	4	33,085,593 (GRCm39)	missense	probably damaging	1.00
R1830:Gabrr2	UTSW	4	33,077,481 (GRCm39)	missense	probably damaging	1.00
R2000:Gabrr2	UTSW	4	33,084,400 (GRCm39)	missense	probably damaging	1.00
R2125:Gabrr2	UTSW	4	33,095,548 (GRCm39)	missense	probably damaging	1.00
R2679:Gabrr2	UTSW	4	33,071,435 (GRCm39)	missense	probably damaging	1.00
R3695:Gabrr2	UTSW	4	33,071,430 (GRCm39)	missense	probably damaging	1.00
R3891:Gabrr2	UTSW	4	33,081,348 (GRCm39)	missense	probably damaging	1.00
R4902:Gabrr2	UTSW	4	33,095,512 (GRCm39)	missense	probably damaging	1.00
R5328:Gabrr2	UTSW	4	33,082,565 (GRCm39)	missense	probably damaging	1.00
R5330:Gabrr2	UTSW	4	33,082,583 (GRCm39)	missense	possibly damaging	0.87
R5331:Gabrr2	UTSW	4	33,082,583 (GRCm39)	missense	possibly damaging	0.87
R5399:Gabrr2	UTSW	4	33,071,458 (GRCm39)	critical splice donor site	probably null
R7299:Gabrr2	UTSW	4	33,095,284 (GRCm39)	missense	probably benign	0.02
R7301:Gabrr2	UTSW	4	33,095,284 (GRCm39)	missense	probably benign	0.02
R7605:Gabrr2	UTSW	4	33,082,560 (GRCm39)	missense	probably damaging	1.00
R7697:Gabrr2	UTSW	4	33,071,358 (GRCm39)	missense	probably benign
R7860:Gabrr2	UTSW	4	33,081,470 (GRCm39)	nonsense	probably null
R7957:Gabrr2	UTSW	4	33,081,410 (GRCm39)	missense	probably damaging	0.99
R8161:Gabrr2	UTSW	4	33,082,566 (GRCm39)	missense	probably damaging	1.00
R8185:Gabrr2	UTSW	4	33,082,330 (GRCm39)	missense	probably damaging	1.00
R8463:Gabrr2	UTSW	4	33,084,375 (GRCm39)	missense	probably damaging	1.00
R8700:Gabrr2	UTSW	4	33,095,488 (GRCm39)	missense	probably damaging	0.97
R8778:Gabrr2	UTSW	4	33,095,517 (GRCm39)	missense	probably damaging	1.00
R9137:Gabrr2	UTSW	4	33,095,571 (GRCm39)	missense	probably benign	0.36
R9366:Gabrr2	UTSW	4	33,085,771 (GRCm39)	missense
R9484:Gabrr2	UTSW	4	33,071,352 (GRCm39)	missense	possibly damaging	0.64
R9528:Gabrr2	UTSW	4	33,081,483 (GRCm39)	missense	probably benign	0.01
R9704:Gabrr2	UTSW	4	33,063,305 (GRCm39)	missense	possibly damaging	0.58
X0017:Gabrr2	UTSW	4	33,082,328 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCACAAATGAGCCACAGAG -3'
(R):5'- TGTATAGCACATGGCCATCG -3'

Sequencing Primer
(F):5'- ACAGAGCCACCATGTTGG -3'
(R):5'- ATGGCCATCGGGGAACACTC -3'

Posted On

2015-04-17