Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Gabrr3'

307470

Institutional Source

Beutler Lab

Gene Symbol

Gabrr3

Ensembl Gene

ENSMUSG00000074991

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 3

Synonyms

MMRRC Submission

040923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59227745-59282102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59253864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 194 (N194D)

Ref Sequence

ENSEMBL: ENSMUSP00000109980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114341]

AlphaFold

B2RXA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000114341
AA Change: N194D

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

SMART Domains

Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: N194D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Neur_chan_LBD	57	264	3.8e-55	PFAM
Pfam:Neur_chan_memb	271	426	8.6e-31	PFAM
transmembrane domain	446	463	N/A	INTRINSIC

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,214,263 (GRCm39)	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,667,242 (GRCm39)	L435Q	probably damaging	Het
Bin1	T	C	18: 32,539,211 (GRCm39)	V48A	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Btn1a1	T	G	13: 23,643,434 (GRCm39)	R338S	probably benign	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Ccdc80	A	G	16: 44,916,455 (GRCm39)	T404A	probably benign	Het
Cd2ap	G	C	17: 43,119,690 (GRCm39)	H488D	probably damaging	Het
Cdon	A	G	9: 35,375,467 (GRCm39)	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786 (GRCm39)	N380D	probably benign	Het
Col6a5	G	A	9: 105,817,033 (GRCm39)	S426F	unknown	Het
Cr2	A	T	1: 194,848,122 (GRCm39)	H345Q	probably damaging	Het
Cttnbp2	T	A	6: 18,427,452 (GRCm39)	K743M	probably benign	Het
Depdc1b	T	C	13: 108,505,370 (GRCm39)	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825 (GRCm39)	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079 (GRCm39)	R98L	probably benign	Het
Eml6	C	T	11: 29,753,167 (GRCm39)	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,193,349 (GRCm39)	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,845,111 (GRCm39)	N10S	probably benign	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Hey1	A	G	3: 8,729,638 (GRCm39)	L273P	probably damaging	Het
Irf6	A	G	1: 192,850,857 (GRCm39)	K365E	probably benign	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Lrp1	G	A	10: 127,389,265 (GRCm39)	A3217V	probably damaging	Het
Mei4	C	T	9: 81,809,336 (GRCm39)	R140C	probably benign	Het
Mir100hg	T	C	9: 41,501,570 (GRCm39)	L143P	probably damaging	Het
Mpo	A	T	11: 87,688,175 (GRCm39)	K278M	probably benign	Het
Mprip	T	C	11: 59,622,328 (GRCm39)		probably benign	Het
Mug2	G	C	6: 122,040,522 (GRCm39)	G691R	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nipal4	C	T	11: 46,041,473 (GRCm39)	V241M	probably damaging	Het
Nlrp2	A	T	7: 5,330,551 (GRCm39)	L615*	probably null	Het
Pcdh1	A	G	18: 38,332,511 (GRCm39)	V164A	probably benign	Het
Phc2	T	C	4: 128,641,037 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,620,133 (GRCm39)	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,844,825 (GRCm39)	G29*	probably null	Het
Slc25a54	A	T	3: 109,019,479 (GRCm39)	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,400,992 (GRCm39)	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,900,764 (GRCm39)		probably null	Het
Strn	A	T	17: 78,965,369 (GRCm39)	I641N	probably damaging	Het
Tapbp	A	G	17: 34,139,457 (GRCm39)	E151G	possibly damaging	Het
Ticrr	T	C	7: 79,343,445 (GRCm39)		probably benign	Het
Tnfrsf21	G	A	17: 43,348,901 (GRCm39)	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Utrn	T	A	10: 12,587,329 (GRCm39)		probably null	Het
Vmn1r175	A	G	7: 23,508,393 (GRCm39)	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,490,682 (GRCm39)	Y167H	probably damaging	Het
Washc1	T	C	17: 66,425,123 (GRCm39)	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,842,656 (GRCm39)		probably null	Het
Xrcc4	A	G	13: 90,219,752 (GRCm39)	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799 (GRCm39)	V770A	probably benign	Het
Zfp410	A	G	12: 84,385,527 (GRCm39)	N90S	probably damaging	Het

Other mutations in Gabrr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02816:Gabrr3	APN	16	59,260,830 (GRCm39)	splice site	probably benign
IGL02989:Gabrr3	APN	16	59,268,371 (GRCm39)	missense	probably damaging	0.98
IGL03048:Gabrr3	UTSW	16	59,250,493 (GRCm39)	missense	probably benign	0.00
PIT4791001:Gabrr3	UTSW	16	59,250,298 (GRCm39)	critical splice acceptor site	probably null
R0368:Gabrr3	UTSW	16	59,260,959 (GRCm39)	missense	probably damaging	0.99
R0976:Gabrr3	UTSW	16	59,281,887 (GRCm39)	missense	probably benign	0.34
R1104:Gabrr3	UTSW	16	59,281,998 (GRCm39)	missense	probably damaging	0.98
R1231:Gabrr3	UTSW	16	59,281,763 (GRCm39)	missense	probably benign	0.01
R1556:Gabrr3	UTSW	16	59,281,763 (GRCm39)	missense	probably benign	0.01
R2181:Gabrr3	UTSW	16	59,268,372 (GRCm39)	missense	probably damaging	0.98
R2185:Gabrr3	UTSW	16	59,255,031 (GRCm39)	missense	probably damaging	1.00
R2336:Gabrr3	UTSW	16	59,250,313 (GRCm39)	missense	probably damaging	1.00
R4572:Gabrr3	UTSW	16	59,282,001 (GRCm39)	missense	probably benign	0.09
R4747:Gabrr3	UTSW	16	59,268,277 (GRCm39)	splice site	probably null
R4786:Gabrr3	UTSW	16	59,250,463 (GRCm39)	missense	probably benign	0.44
R4845:Gabrr3	UTSW	16	59,246,833 (GRCm39)	missense	probably damaging	0.99
R5539:Gabrr3	UTSW	16	59,281,758 (GRCm39)	missense	probably benign
R5543:Gabrr3	UTSW	16	59,253,870 (GRCm39)	missense	probably damaging	1.00
R5979:Gabrr3	UTSW	16	59,254,931 (GRCm39)	missense	possibly damaging	0.81
R6211:Gabrr3	UTSW	16	59,268,471 (GRCm39)	missense	probably benign
R7338:Gabrr3	UTSW	16	59,268,439 (GRCm39)	missense	possibly damaging	0.70
R7456:Gabrr3	UTSW	16	59,227,853 (GRCm39)	nonsense	probably null
R8673:Gabrr3	UTSW	16	59,235,633 (GRCm39)	missense	possibly damaging	0.55
R9001:Gabrr3	UTSW	16	59,282,008 (GRCm39)	missense	probably benign	0.01
R9139:Gabrr3	UTSW	16	59,227,830 (GRCm39)	missense	probably benign	0.12
R9378:Gabrr3	UTSW	16	59,282,037 (GRCm39)	missense	possibly damaging	0.78
Z1176:Gabrr3	UTSW	16	59,227,845 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGACAGAACGCAGTCAGG -3'
(R):5'- CTTCTCTTTCAAAAGACACGATCTG -3'

Sequencing Primer
(F):5'- CAGAACGCAGTCAGGTCTGTTTC -3'
(R):5'- CTGTTATCATCATTAGGAAGAGAGCG -3'

Posted On

2015-04-17