Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Gabrr3'

342228

Institutional Source

Beutler Lab

Gene Symbol

Gabrr3

Ensembl Gene

ENSMUSG00000074991

Gene Name

gamma-aminobutyric acid type A receptor subunit rho 3

Synonyms

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

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

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59227745-59282102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59282001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 452 (Y452F)

Ref Sequence

ENSEMBL: ENSMUSP00000109980 (fasta)

Gene Model

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

AlphaFold

B2RXA8

Predicted Effect

probably benign
Transcript: ENSMUST00000114341
AA Change: Y452F

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: Y452F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185295

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,107,374 (GRCm39)	I747N	probably benign	Het
Adamtsl2	A	G	2: 26,973,268 (GRCm39)	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,212,007 (GRCm39)		probably benign	Het
Alpk2	A	T	18: 65,414,075 (GRCm39)	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,639,340 (GRCm39)		probably null	Het
Apobec1	T	C	6: 122,558,356 (GRCm39)	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,283,366 (GRCm39)	I181N	probably damaging	Het
Cilp2	A	G	8: 70,335,060 (GRCm39)	V646A	probably damaging	Het
Clasrp	A	G	7: 19,318,389 (GRCm39)		probably null	Het
Cnot2	T	C	10: 116,330,751 (GRCm39)	T423A	probably benign	Het
Crtap	T	C	9: 114,213,874 (GRCm39)	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,658,990 (GRCm39)	F217S	probably damaging	Het
Ddx60	A	G	8: 62,440,455 (GRCm39)	M1036V	probably damaging	Het
Dnah11	A	T	12: 117,973,860 (GRCm39)	I2818N	probably benign	Het
Dok6	T	A	18: 89,492,071 (GRCm39)	I169F	possibly damaging	Het
Duox2	T	A	2: 122,112,207 (GRCm39)	R1326S	probably benign	Het
Epha10	A	G	4: 124,796,361 (GRCm39)	T357A	unknown	Het
Ephb2	A	C	4: 136,383,251 (GRCm39)	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,634 (GRCm39)		probably null	Het
Gabrb2	A	G	11: 42,484,744 (GRCm39)	N267S	possibly damaging	Het
Gen1	A	G	12: 11,292,419 (GRCm39)	S457P	probably damaging	Het
Gm1993	C	T	X: 25,515,656 (GRCm39)	R77H	probably damaging	Het
Gm5592	G	A	7: 40,865,583 (GRCm39)		probably benign	Het
Hmbox1	A	G	14: 65,140,682 (GRCm39)		probably null	Het
Hus1	A	T	11: 8,957,617 (GRCm39)		probably null	Het
Ino80	G	A	2: 119,232,839 (GRCm39)	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,212,412 (GRCm39)	F27L	probably damaging	Het
Kri1	A	T	9: 21,191,680 (GRCm39)	F187L	probably damaging	Het
Lekr1	A	T	3: 65,691,336 (GRCm39)		noncoding transcript	Het
Mapk15	T	C	15: 75,870,599 (GRCm39)		probably benign	Het
Mrgpre	G	A	7: 143,334,841 (GRCm39)	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399 (GRCm39)	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Mup15	A	G	4: 61,356,454 (GRCm39)		probably null	Het
Ncapd3	A	G	9: 27,005,911 (GRCm39)	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 19,760,606 (GRCm39)		probably null	Het
Npy6r	A	T	18: 44,408,984 (GRCm39)	Y135F	probably benign	Het
Or7e170	A	C	9: 19,795,275 (GRCm39)	C109G	probably benign	Het
Phf14	G	A	6: 12,006,823 (GRCm39)	R825Q	probably damaging	Het
Pigg	A	G	5: 108,480,751 (GRCm39)	M379V	probably benign	Het
Plppr3	T	A	10: 79,701,897 (GRCm39)	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,932,717 (GRCm39)	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,272,614 (GRCm39)	S2A	probably benign	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rab4a	A	T	8: 124,560,799 (GRCm39)	D196V	probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rgs14	A	T	13: 55,527,875 (GRCm39)	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,864,967 (GRCm39)		probably benign	Het
Sesn3	G	A	9: 14,232,516 (GRCm39)	R263H	probably benign	Het
Slfn1	A	T	11: 83,012,289 (GRCm39)	D135V	probably benign	Het
Spata17	T	C	1: 186,926,193 (GRCm39)	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,425,760 (GRCm39)	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,713,888 (GRCm39)	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,738,649 (GRCm39)	D179G	probably damaging	Het
Tll1	A	G	8: 64,509,343 (GRCm39)	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,224,461 (GRCm39)		probably null	Het
Trappc9	G	T	15: 72,808,916 (GRCm39)	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,060,395 (GRCm39)	C460*	probably null	Het
Trim35	T	C	14: 66,545,322 (GRCm39)	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,479 (GRCm39)	H209Q	probably benign	Het
Ulk4	T	C	9: 121,021,830 (GRCm39)	K627R	probably damaging	Het
Wnk1	T	C	6: 119,928,872 (GRCm39)	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,622,981 (GRCm39)	R141C	probably damaging	Het
Zfp735	A	G	11: 73,580,611 (GRCm39)	M37V	probably benign	Het
Zmym1	A	T	4: 126,944,628 (GRCm39)	N186K	probably benign	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
R3941:Gabrr3	UTSW	16	59,253,864 (GRCm39)	missense	probably damaging	1.00
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'- TGGCCTTCGATGGTTGCTAC -3'
(R):5'- AAATACCACCTGACTCGAATGGAAG -3'

Sequencing Primer
(F):5'- AGACTGATGTGGACCAGACTTCC -3'
(R):5'- CCTGACTCGAATGGAAGTCTAC -3'

Posted On

2015-09-24