Mutagenetix > Incidental Mutation

Incidental Mutation 'R8946:Or7e166'

681308

Institutional Source

Beutler Lab

Gene Symbol

Or7e166

Ensembl Gene

ENSMUSG00000094678

Gene Name

olfactory receptor family 7 subfamily E member 166

Synonyms

MOR146-8P, Olfr857, GA_x6K02T2PVTD-13452606-13453535

MMRRC Submission

068784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19624125-19625054 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19624885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 254 (T254I)

Ref Sequence

ENSEMBL: ENSMUSP00000148617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077023] [ENSMUST00000212013] [ENSMUST00000217450]

AlphaFold

A0A1L1SUS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000077023
AA Change: T254I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076281
Gene: ENSMUSG00000094678
AA Change: T254I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.5e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.5e-5	PFAM
Pfam:7tm_1	41	290	9.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212013
AA Change: T254I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,304,368 (GRCm39)	S393G	probably damaging	Het
Ankrd28	A	G	14: 31,430,083 (GRCm39)	F862L	probably damaging	Het
Ankrd31	T	C	13: 97,046,037 (GRCm39)	*1546Q	probably null	Het
Ankrd33b	T	C	15: 31,297,894 (GRCm39)	T288A	probably benign	Het
Aox1	T	C	1: 58,145,227 (GRCm39)	I1331T	possibly damaging	Het
Atp13a5	A	G	16: 29,146,601 (GRCm39)	L231P	probably damaging	Het
C1qtnf12	T	C	4: 156,050,882 (GRCm39)	F284L	probably damaging	Het
Caprin1	A	T	2: 103,608,378 (GRCm39)	H250Q	probably damaging	Het
Cd2bp2	A	C	7: 126,793,923 (GRCm39)	I122S	probably damaging	Het
Cd300lf	T	A	11: 115,024,738 (GRCm39)		probably benign	Het
Ceacam14	A	G	7: 17,547,999 (GRCm39)	I30V	probably benign	Het
Chchd1	T	A	14: 20,753,385 (GRCm39)	*56R	probably null	Het
Ckap5	A	G	2: 91,409,861 (GRCm39)	T948A	probably benign	Het
Clec12a	A	T	6: 129,340,949 (GRCm39)	N243I	possibly damaging	Het
Col11a2	A	G	17: 34,270,757 (GRCm39)	M462V	probably benign	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Csnka2ip	T	C	16: 64,300,667 (GRCm39)		probably benign	Het
D130040H23Rik	C	A	8: 69,755,033 (GRCm39)	T146N	possibly damaging	Het
Dennd5b	T	C	6: 148,943,485 (GRCm39)		probably benign	Het
Fanci	A	G	7: 79,045,726 (GRCm39)	T23A	probably benign	Het
Fmnl1	T	C	11: 103,071,741 (GRCm39)	Y83H	probably damaging	Het
Galnt13	C	A	2: 54,770,075 (GRCm39)	T289N	probably benign	Het
Gcn1	A	G	5: 115,733,404 (GRCm39)	D1074G	probably benign	Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,492,669 (GRCm39)		probably null	Het
Gnl1	T	C	17: 36,294,479 (GRCm39)	I366T	probably benign	Het
Gtf2ird2	A	T	5: 134,245,161 (GRCm39)	Y473F	probably damaging	Het
Ikzf1	T	A	11: 11,719,485 (GRCm39)	D397E	possibly damaging	Het
Ints15	C	G	5: 143,300,795 (GRCm39)	E19Q	probably benign	Het
Intu	C	T	3: 40,637,789 (GRCm39)	A425V	possibly damaging	Het
Irag1	A	T	7: 110,477,347 (GRCm39)		probably null	Het
Jakmip1	G	A	5: 37,343,084 (GRCm39)		probably null	Het
Lif	C	A	11: 4,219,225 (GRCm39)	P168Q	possibly damaging	Het
Myh11	A	C	16: 14,048,580 (GRCm39)	S576A	probably benign	Het
Neb	A	G	2: 52,041,425 (GRCm39)	V6559A	probably damaging	Het
Nphs1	A	G	7: 30,162,625 (GRCm39)	N368S	probably damaging	Het
Npsr1	G	A	9: 24,224,525 (GRCm39)	V148I	probably benign	Het
Or51f1	C	A	7: 102,505,725 (GRCm39)	G255*	probably null	Het
Or52ab4	T	C	7: 102,987,573 (GRCm39)	F104S	probably damaging	Het
Or56a5	T	A	7: 104,792,832 (GRCm39)	I223F	probably damaging	Het
Or5b111	A	T	19: 13,291,502 (GRCm39)	L49Q	probably damaging	Het
Patz1	T	C	11: 3,241,856 (GRCm39)	C415R	probably damaging	Het
Pcdha9	A	T	18: 37,131,546 (GRCm39)	N205I	possibly damaging	Het
Pcdhga12	A	T	18: 37,899,711 (GRCm39)	E181V	probably benign	Het
Pcnx1	T	C	12: 82,018,158 (GRCm39)	Y1333H	probably damaging	Het
Phf7	A	T	14: 30,970,106 (GRCm39)		probably benign	Het
Pomc	T	G	12: 4,010,298 (GRCm39)	S180A	probably benign	Het
Ppp1r7	T	A	1: 93,288,536 (GRCm39)		probably null	Het
Prrc2c	A	T	1: 162,536,478 (GRCm39)		probably benign	Het
Rsf1	GGC	GGCCACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Semp2l1	C	T	1: 32,585,685 (GRCm39)	R75Q	probably benign	Het
Senp1	T	C	15: 97,940,782 (GRCm39)	K664E	probably damaging	Het
Skint7	A	G	4: 111,839,198 (GRCm39)	N164S	possibly damaging	Het
Smg1	C	A	7: 117,751,900 (GRCm39)	R2775M	probably null	Het
Snrnp27	C	T	6: 86,653,226 (GRCm39)	V131M	probably damaging	Het
Spire1	C	A	18: 67,629,686 (GRCm39)	R357L	probably damaging	Het
Sspo	G	A	6: 48,434,071 (GRCm39)	V959I	probably damaging	Het
St6galnac2	T	C	11: 116,568,458 (GRCm39)	H335R	probably damaging	Het
Stard13	C	T	5: 150,984,267 (GRCm39)	R623H	probably damaging	Het
Syde1	T	A	10: 78,424,683 (GRCm39)	E383V	probably damaging	Het
Taf10	A	G	7: 105,393,524 (GRCm39)	M1T	probably null	Het
Traf3ip3	A	G	1: 192,869,415 (GRCm39)	C257R	probably damaging	Het
Trpm8	G	A	1: 88,276,061 (GRCm39)		probably benign	Het
Veph1	A	G	3: 66,171,301 (GRCm39)		probably null	Het
Vmn1r169	A	T	7: 23,276,640 (GRCm39)	T11S	possibly damaging	Het
Wdhd1	A	T	14: 47,482,752 (GRCm39)	S961T	probably benign	Het
Zfp773	T	C	7: 7,135,469 (GRCm39)	T376A	possibly damaging	Het

Other mutations in Or7e166

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Or7e166	APN	9	19,624,575 (GRCm39)	missense	probably benign	0.00
IGL01919:Or7e166	APN	9	19,624,638 (GRCm39)	missense	probably benign	0.00
IGL02157:Or7e166	APN	9	19,624,585 (GRCm39)	missense	probably benign	0.07
IGL02550:Or7e166	APN	9	19,624,343 (GRCm39)	missense	possibly damaging	0.92
IGL03329:Or7e166	APN	9	19,624,597 (GRCm39)	missense	probably benign	0.16
IGL02799:Or7e166	UTSW	9	19,624,314 (GRCm39)	missense	probably damaging	0.99
R0356:Or7e166	UTSW	9	19,624,743 (GRCm39)	missense	probably damaging	1.00
R0927:Or7e166	UTSW	9	19,624,945 (GRCm39)	missense	probably benign	0.39
R1161:Or7e166	UTSW	9	19,624,476 (GRCm39)	missense	probably damaging	1.00
R1848:Or7e166	UTSW	9	19,624,386 (GRCm39)	missense	probably benign	0.01
R5191:Or7e166	UTSW	9	19,624,630 (GRCm39)	missense	probably damaging	0.98
R5216:Or7e166	UTSW	9	19,624,585 (GRCm39)	missense	probably benign	0.07
R5259:Or7e166	UTSW	9	19,624,109 (GRCm39)	splice site	probably null
R5342:Or7e166	UTSW	9	19,624,333 (GRCm39)	missense	probably damaging	1.00
R5506:Or7e166	UTSW	9	19,624,570 (GRCm39)	missense	possibly damaging	0.61
R5526:Or7e166	UTSW	9	19,624,994 (GRCm39)	nonsense	probably null
R5594:Or7e166	UTSW	9	19,624,302 (GRCm39)	missense	probably damaging	0.99
R5928:Or7e166	UTSW	9	19,625,049 (GRCm39)	missense	probably benign	0.02
R6569:Or7e166	UTSW	9	19,624,638 (GRCm39)	missense	probably benign	0.00
R6858:Or7e166	UTSW	9	19,624,765 (GRCm39)	missense	probably damaging	0.98
R7077:Or7e166	UTSW	9	19,624,428 (GRCm39)	missense	probably benign
R7378:Or7e166	UTSW	9	19,624,183 (GRCm39)	missense	probably damaging	1.00
R7771:Or7e166	UTSW	9	19,624,767 (GRCm39)	missense	probably benign
R8038:Or7e166	UTSW	9	19,624,976 (GRCm39)	missense	possibly damaging	0.52
R8160:Or7e166	UTSW	9	19,624,085 (GRCm39)	intron	probably benign
R8223:Or7e166	UTSW	9	19,624,705 (GRCm39)	missense	probably benign
R8400:Or7e166	UTSW	9	19,624,389 (GRCm39)	missense	probably benign	0.45
R8780:Or7e166	UTSW	9	19,624,653 (GRCm39)	missense	possibly damaging	0.92
R9164:Or7e166	UTSW	9	19,624,954 (GRCm39)	missense	probably benign	0.25
R9475:Or7e166	UTSW	9	19,624,939 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTTCCAGAACTTGTAAAACTTGCTTG -3'
(R):5'- GGGATCATGCAGGTAGTTAAATTATG -3'

Sequencing Primer
(F):5'- CTTGTAAAACTTGCTTGTTCTAACAC -3'
(R):5'- GTTATCTGACGGACAATTTTCCAGAG -3'

Posted On

2021-08-31