Mutagenetix > Incidental Mutation

Incidental Mutation 'R4420:Gnat3'

327039

Institutional Source

Beutler Lab

Gene Symbol

Gnat3

Ensembl Gene

ENSMUSG00000028777

Gene Name

G protein subunit alpha transducin 3

Synonyms

Gtn, Ggust, alpha-gustducin

MMRRC Submission

041141-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18167568-18224666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18204799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 151 (S151P)

Ref Sequence

ENSEMBL: ENSMUSP00000030561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030561]

AlphaFold

Q3V3I2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030561
AA Change: S151P

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

SMART Domains

Protein: ENSMUSP00000030561
Gene: ENSMUSG00000028777
AA Change: S151P

Domain	Start	End	E-Value	Type
G_alpha	13	353	3.06e-221	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (53/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal taste sensitivity. Mice show reduced behavioral and electrophysiological responses to bitter, sweet, and unami compounds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef17	G	A	7: 100,531,515 (GRCm39)		probably benign	Het
Atp1b1	T	C	1: 164,281,127 (GRCm39)	T53A	probably damaging	Het
Carmil3	A	G	14: 55,731,045 (GRCm39)	Q104R	probably damaging	Het
Casz1	T	G	4: 149,033,375 (GRCm39)	N1382K	possibly damaging	Het
Chfr	T	A	5: 110,318,746 (GRCm39)	C585*	probably null	Het
Chp2	T	C	7: 121,821,161 (GRCm39)	F174S	probably damaging	Het
Dclre1c	A	T	2: 3,434,782 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,168,462 (GRCm39)	V487A	probably benign	Het
Dnah9	T	C	11: 66,009,575 (GRCm39)	R771G	probably benign	Het
Duox1	G	A	2: 122,157,607 (GRCm39)	A578T	probably benign	Het
Elp3	G	A	14: 65,818,240 (GRCm39)	A140V	probably damaging	Het
Fbrsl1	T	C	5: 110,526,852 (GRCm39)	H387R	possibly damaging	Het
Gucy1a2	T	A	9: 3,634,640 (GRCm39)	L228H	probably damaging	Het
Gzmn	A	T	14: 56,403,463 (GRCm39)	H215Q	probably benign	Het
Heg1	A	T	16: 33,547,805 (GRCm39)	E864V	probably benign	Het
Hoxb9	T	C	11: 96,162,807 (GRCm39)	V147A	probably benign	Het
Hsf5	T	G	11: 87,548,130 (GRCm39)	H604Q	probably benign	Het
Hus1	T	C	11: 8,950,133 (GRCm39)	E196G	probably damaging	Het
Il12rb2	G	T	6: 67,293,394 (GRCm39)		probably null	Het
Irs1	T	C	1: 82,266,171 (GRCm39)	S682G	possibly damaging	Het
Jcad	T	C	18: 4,676,032 (GRCm39)	S1265P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Matk	A	G	10: 81,098,291 (GRCm39)	S361G	possibly damaging	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Nceh1	A	G	3: 27,295,798 (GRCm39)	D353G	probably damaging	Het
Nqo1	C	T	8: 108,118,749 (GRCm39)		probably null	Het
Or5t7	A	G	2: 86,507,263 (GRCm39)	V138A	possibly damaging	Het
Pcdh7	T	C	5: 58,286,512 (GRCm39)	I1196T	probably benign	Het
Pla2g4d	A	G	2: 120,114,644 (GRCm39)	V29A	probably benign	Het
Ppfibp1	T	A	6: 146,927,736 (GRCm39)	Y794*	probably null	Het
Prdx5	C	A	19: 6,885,332 (GRCm39)		probably null	Het
Psme4	C	T	11: 30,762,028 (GRCm39)	T456I	possibly damaging	Het
Ptprd	A	T	4: 75,957,614 (GRCm39)	S923R	possibly damaging	Het
Samd12	G	A	15: 53,723,655 (GRCm39)	R13W	probably damaging	Het
Slc35f4	A	T	14: 49,551,034 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,997,031 (GRCm39)	Y530H	probably damaging	Het
Spata2l	T	C	8: 123,960,768 (GRCm39)	T174A	possibly damaging	Het
Sugct	C	T	13: 17,627,130 (GRCm39)	C241Y	probably damaging	Het
Tarbp1	G	T	8: 127,173,819 (GRCm39)	A965D	possibly damaging	Het
Tas1r3	A	G	4: 155,946,789 (GRCm39)	V272A	probably damaging	Het
Tas2r117	T	A	6: 132,780,312 (GRCm39)	L150*	probably null	Het
Trip10	C	T	17: 57,562,448 (GRCm39)	P322L	probably benign	Het
Wdfy3	A	C	5: 102,058,850 (GRCm39)	H1487Q	probably damaging	Het
Wdr95	G	A	5: 149,456,131 (GRCm39)	V8M	probably damaging	Het
Zc3h15	C	A	2: 83,488,356 (GRCm39)	A98E	probably damaging	Het
Zfp763	T	G	17: 33,237,455 (GRCm39)	K563N	probably benign	Het
Zmym2	G	A	14: 57,194,335 (GRCm39)	D1198N	probably damaging	Het
Zp1	C	T	19: 10,892,124 (GRCm39)		probably null	Het

Other mutations in Gnat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Gnat3	APN	5	18,208,749 (GRCm39)	splice site	probably benign
IGL01023:Gnat3	APN	5	18,208,826 (GRCm39)	missense	probably damaging	1.00
IGL01997:Gnat3	APN	5	18,204,721 (GRCm39)	nonsense	probably null
PIT4377001:Gnat3	UTSW	5	18,220,557 (GRCm39)	missense
R0556:Gnat3	UTSW	5	18,224,596 (GRCm39)	missense	probably damaging	1.00
R1624:Gnat3	UTSW	5	18,208,841 (GRCm39)	missense	possibly damaging	0.66
R1934:Gnat3	UTSW	5	18,224,508 (GRCm39)	missense	possibly damaging	0.74
R2319:Gnat3	UTSW	5	18,224,624 (GRCm39)	missense	probably benign	0.17
R3928:Gnat3	UTSW	5	18,208,892 (GRCm39)	splice site	probably benign
R4169:Gnat3	UTSW	5	18,208,862 (GRCm39)	missense	probably damaging	1.00
R4632:Gnat3	UTSW	5	18,220,364 (GRCm39)	splice site	probably null
R4651:Gnat3	UTSW	5	18,220,568 (GRCm39)	missense	probably damaging	1.00
R4652:Gnat3	UTSW	5	18,220,568 (GRCm39)	missense	probably damaging	1.00
R5471:Gnat3	UTSW	5	18,196,322 (GRCm39)	missense	probably damaging	1.00
R7460:Gnat3	UTSW	5	18,204,656 (GRCm39)	missense
R7627:Gnat3	UTSW	5	18,204,746 (GRCm39)	missense
R7637:Gnat3	UTSW	5	18,208,770 (GRCm39)	missense
R8342:Gnat3	UTSW	5	18,208,838 (GRCm39)	missense
R8428:Gnat3	UTSW	5	18,220,312 (GRCm39)	missense	possibly damaging	0.89
X0064:Gnat3	UTSW	5	18,208,838 (GRCm39)	missense	possibly damaging	0.74
Z1088:Gnat3	UTSW	5	18,220,321 (GRCm39)	missense	probably damaging	1.00
Z1177:Gnat3	UTSW	5	18,220,311 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCCTGTGCCTAAATAGCATAC -3'
(R):5'- CCATCTGTCTGTGTTCATGCTAAG -3'

Sequencing Primer
(F):5'- GCCTGTGCCTAAATAGCATACTTTTG -3'
(R):5'- TTCTGCTGGCTCTCAGG -3'

Posted On

2015-07-07