Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Gabrr2'

593700

Institutional Source

Beutler Lab

Gene Symbol

Gabrr2

Ensembl Gene

ENSMUSG00000023267

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33062999-33095865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33071358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 66 (Y66F)

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: Y66F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: Y66F

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: Y41F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: Y41F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Cspg5	G	C	9: 110,085,294 (GRCm39)	R488S	probably damaging	Het
Csrnp2	A	T	15: 100,385,953 (GRCm39)	M95K	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mrps7	A	G	11: 115,495,701 (GRCm39)	T80A	probably benign	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Rtn1	A	G	12: 72,455,151 (GRCm39)	S59P	probably benign	Het
Siae	A	G	9: 37,544,950 (GRCm39)	Y315C	probably damaging	Het
Susd3	C	A	13: 49,391,074 (GRCm39)	W147L	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Wls	C	A	3: 159,616,955 (GRCm39)	H331Q	probably benign	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	probably damaging	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
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
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'- GGAATGTTCTGGAAGGATCTGTCC -3'
(R):5'- TGTCAACAGCCTCTCCACTG -3'

Sequencing Primer
(F):5'- CCTGGGGTGGACATCCTTG -3'
(R):5'- ACTGCCTGCCTGTGACCAC -3'

Posted On

2019-11-12