Mutagenetix > Incidental Mutation

Incidental Mutation 'R5471:Gnat3'

433801

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

043032-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18167568-18224666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18196322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 56 (I56N)

Ref Sequence

ENSEMBL: ENSMUSP00000030561 (fasta)

Gene Model

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

AlphaFold

Q3V3I2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030561
AA Change: I56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030561
Gene: ENSMUSG00000028777
AA Change: I56N

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

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

96% (67/70)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	T	7: 119,259,829 (GRCm39)	H493Y	probably damaging	Het
Alox12e	T	C	11: 70,210,850 (GRCm39)	I290V	probably benign	Het
Ankfy1	T	A	11: 72,619,617 (GRCm39)	N163K	probably benign	Het
Baiap2l1	T	G	5: 144,218,951 (GRCm39)	N219T	probably benign	Het
Cd72	T	C	4: 43,448,345 (GRCm39)	I312V	probably benign	Het
Cfap54	A	T	10: 92,864,522 (GRCm39)	M139K	probably damaging	Het
Clec4n	T	A	6: 123,209,145 (GRCm39)	M70K	probably benign	Het
Cmklr2	A	C	1: 63,223,058 (GRCm39)	V59G	probably damaging	Het
Cwh43	T	A	5: 73,565,574 (GRCm39)	C46*	probably null	Het
Cyp1a2	A	T	9: 57,586,303 (GRCm39)	I405N	probably damaging	Het
Dlc1	G	T	8: 37,051,879 (GRCm39)	S617R	probably benign	Het
Eif2ak4	A	G	2: 118,304,613 (GRCm39)	N1546S	probably benign	Het
Elmo1	A	G	13: 20,756,555 (GRCm39)	I548V	probably benign	Het
Exoc6	A	G	19: 37,588,065 (GRCm39)	D566G	probably benign	Het
Fam20b	T	C	1: 156,533,299 (GRCm39)	T106A	probably damaging	Het
Fam83h	T	C	15: 75,874,752 (GRCm39)	T862A	probably benign	Het
Fgfr1op2	A	T	6: 146,498,860 (GRCm39)		probably null	Het
Gcnt2	A	G	13: 41,014,195 (GRCm39)	Y122C	probably damaging	Het
Gm11992	A	T	11: 9,018,333 (GRCm39)		probably null	Het
Gm5114	C	A	7: 39,058,534 (GRCm39)	E362*	probably null	Het
Gm815	A	G	19: 26,865,769 (GRCm39)	T96A	unknown	Het
Gm8674	A	G	13: 50,054,849 (GRCm39)		noncoding transcript	Het
Igkv1-133	T	C	6: 67,702,531 (GRCm39)	V83A	probably benign	Het
Mrgprb8	T	A	7: 48,038,471 (GRCm39)	N47K	probably damaging	Het
Nav2	A	G	7: 49,197,917 (GRCm39)	D1182G	probably damaging	Het
Neto2	T	C	8: 86,367,389 (GRCm39)	T480A	probably benign	Het
Npnt	T	G	3: 132,620,148 (GRCm39)	N115T	probably benign	Het
Nr1h5	T	C	3: 102,856,442 (GRCm39)	N279S	possibly damaging	Het
Ntrk2	T	C	13: 59,019,574 (GRCm39)	V395A	probably benign	Het
Or2ak6	T	C	11: 58,593,151 (GRCm39)	L208S	probably damaging	Het
Or5ac23	T	G	16: 59,148,994 (GRCm39)	N293H	probably damaging	Het
Or6c1	A	G	10: 129,517,925 (GRCm39)	S228P	probably damaging	Het
Padi2	A	G	4: 140,660,519 (GRCm39)	K333R	possibly damaging	Het
Pira1	T	A	7: 3,738,514 (GRCm39)	I621F	probably benign	Het
Ptgis	C	A	2: 167,066,039 (GRCm39)	M130I	probably benign	Het
Ptpn4	A	T	1: 119,693,649 (GRCm39)	Y124*	probably null	Het
Saal1	C	T	7: 46,349,072 (GRCm39)	V281M	probably benign	Het
Saxo1	G	A	4: 86,363,961 (GRCm39)	T174I	probably damaging	Het
Slc7a12	G	A	3: 14,545,935 (GRCm39)	V27M	probably damaging	Het
Slco4c1	C	A	1: 96,799,770 (GRCm39)	R22L	probably benign	Het
Slfn9	T	G	11: 82,873,613 (GRCm39)	Q430P	possibly damaging	Het
Slit2	T	A	5: 48,346,897 (GRCm39)	N246K	probably damaging	Het
Stox2	G	T	8: 47,646,548 (GRCm39)	T304K	probably damaging	Het
Tmem87b	T	G	2: 128,693,240 (GRCm39)	F542V	possibly damaging	Het
Topaz1	T	G	9: 122,620,481 (GRCm39)		probably null	Het
Trappc12	G	A	12: 28,741,499 (GRCm39)	R737W	probably damaging	Het
Trim9	A	G	12: 70,393,566 (GRCm39)	I126T	possibly damaging	Het
Txnl1	A	G	18: 63,809,997 (GRCm39)	C149R	probably damaging	Het
Ubald1	G	A	16: 4,693,705 (GRCm39)	T70M	probably damaging	Het
Vash1	G	A	12: 86,735,902 (GRCm39)	V263M	possibly damaging	Het
Vsx1	T	C	2: 150,524,986 (GRCm39)	T343A	probably benign	Het
Zfp397	A	G	18: 24,093,081 (GRCm39)	N189D	probably benign	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
R4420:Gnat3	UTSW	5	18,204,799 (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
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'- GGAGACCAGGGAATTTCCTTC -3'
(R):5'- TCCCACCCTAGCCATGTAATTAATC -3'

Sequencing Primer
(F):5'- CCAGGGAATTTCCTTCTTGAAAATGG -3'
(R):5'- ATCACATGGGCATACTTACTCGG -3'

Posted On

2016-10-06