Mutagenetix > Incidental Mutation

Incidental Mutation 'R7301:Gabrr2'

566961

Institutional Source

Beutler Lab

Gene Symbol

Gabrr2

Ensembl Gene

ENSMUSG00000023267

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 2

Synonyms

MMRRC Submission

045405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33062999-33095865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33095284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 391 (M391K)

Ref Sequence

ENSEMBL: ENSMUSP00000024035 (fasta)

Gene Model

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

AlphaFold

P56476

Predicted Effect

probably benign
Transcript: ENSMUST00000024035
AA Change: M391K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: M391K

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 benign
Transcript: ENSMUST00000108162
AA Change: M366K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: M366K

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

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,376,308 (GRCm39)	S345N	possibly damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,488,624 (GRCm39)	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,689,940 (GRCm39)	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,093,383 (GRCm39)	Y791*	probably null	Het
Cacng8	C	A	7: 3,463,937 (GRCm39)	T363K	probably benign	Het
Camkmt	A	G	17: 85,738,921 (GRCm39)	T216A	probably benign	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cnppd1	A	G	1: 75,113,068 (GRCm39)	L400P	probably damaging	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,692,933 (GRCm39)	V359A	possibly damaging	Het
Dscam	T	C	16: 96,857,732 (GRCm39)	T93A	probably benign	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Entpd2	T	A	2: 25,290,921 (GRCm39)	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,128,060 (GRCm39)	Q715K	probably benign	Het
Fam186b	T	C	15: 99,176,629 (GRCm39)	R754G	probably benign	Het
Fcgbp	T	A	7: 27,792,861 (GRCm39)	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,689,212 (GRCm39)	V361A	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Greb1l	C	G	18: 10,544,970 (GRCm39)	Q1433E	probably damaging	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,275,915 (GRCm39)	N74K	probably benign	Het
Il12rb1	A	G	8: 71,266,343 (GRCm39)	I229M	possibly damaging	Het
Il17rd	T	C	14: 26,798,348 (GRCm39)	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,518,985 (GRCm39)	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Lmf2	C	A	15: 89,239,733 (GRCm39)		probably benign	Het
Lrrc3b	T	C	14: 15,357,934 (GRCm38)	Y224C	probably damaging	Het
Med1	A	C	11: 98,043,634 (GRCm39)	F599C	probably benign	Het
Mrgprb4	A	G	7: 47,848,506 (GRCm39)	S141P	probably damaging	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,436,504 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Nqo1	A	G	8: 108,119,280 (GRCm39)	I99T	probably damaging	Het
Or1j17	T	A	2: 36,578,023 (GRCm39)	M3K	probably benign	Het
Or6c2b	T	C	10: 128,947,568 (GRCm39)	H242R	probably damaging	Het
Pabir1	T	A	19: 24,454,488 (GRCm39)	H78L	probably benign	Het
Pabir1	T	A	19: 24,454,710 (GRCm39)	E4V	probably damaging	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Plpp7	T	G	2: 31,986,067 (GRCm39)	F82V	probably benign	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,128,739 (GRCm39)	W64R	probably damaging	Het
Rilp	G	T	11: 75,400,942 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Slc27a4	C	T	2: 29,702,944 (GRCm39)	T591I	probably null	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Spata31f1e	T	C	4: 42,792,923 (GRCm39)	N403S	possibly damaging	Het
Sptbn1	A	T	11: 30,067,798 (GRCm39)	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Synpo2	A	C	3: 122,907,702 (GRCm39)	M538R	probably benign	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,052,978 (GRCm39)	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	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
R3892: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
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'- AGAATTACTGTACTCTGAGCAGGC -3'
(R):5'- GAGACCCATTTGGCCTTTCAG -3'

Sequencing Primer
(F):5'- TACTCTGAGCAGGCCAGAGTG -3'
(R):5'- CAGAAGGCCTTTCTTTCTGGAG -3'

Posted On

2019-06-26