Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Olfr170'

489725

Institutional Source

Beutler Lab

Gene Symbol

Olfr170

Ensembl Gene

ENSMUSG00000062245

Gene Name

olfactory receptor 170

Synonyms

GA_x54KRFPKG5P-16052703-16051765, MOR273-2

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19605696-19611882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19605925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 248 (V248F)

Ref Sequence

ENSEMBL: ENSMUSP00000151806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078603] [ENSMUST00000206562] [ENSMUST00000218837]

AlphaFold

Q8VGL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078603
AA Change: V247F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077674
Gene: ENSMUSG00000062245
AA Change: V247F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.5e-43	PFAM
Pfam:7tm_1	41	290	2.4e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206562
AA Change: V247F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218837
AA Change: V248F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.5429

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	probably benign	Het

Other mutations in Olfr170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Olfr170	APN	16	19605921	missense	probably benign	0.00
IGL02002:Olfr170	APN	16	19606550	missense	possibly damaging	0.91
IGL02537:Olfr170	APN	16	19605799	missense	probably damaging	1.00
IGL02881:Olfr170	APN	16	19606300	missense	probably damaging	1.00
IGL03189:Olfr170	APN	16	19606591	missense	probably benign
R0012:Olfr170	UTSW	16	19606440	missense	probably benign	0.30
R0619:Olfr170	UTSW	16	19606272	missense	probably damaging	1.00
R0764:Olfr170	UTSW	16	19606432	missense	probably damaging	1.00
R1387:Olfr170	UTSW	16	19606027	missense	probably damaging	1.00
R1430:Olfr170	UTSW	16	19606002	missense	probably damaging	1.00
R1503:Olfr170	UTSW	16	19606312	missense	probably benign	0.19
R1878:Olfr170	UTSW	16	19605751	missense	probably benign
R1989:Olfr170	UTSW	16	19606657	missense	probably benign	0.00
R2012:Olfr170	UTSW	16	19606131	missense	probably benign	0.22
R3890:Olfr170	UTSW	16	19606455	missense	probably damaging	1.00
R3891:Olfr170	UTSW	16	19606455	missense	probably damaging	1.00
R5591:Olfr170	UTSW	16	19605858	missense	probably damaging	1.00
R6297:Olfr170	UTSW	16	19605930	missense	possibly damaging	0.81
R6512:Olfr170	UTSW	16	19606359	missense	probably damaging	1.00
R6962:Olfr170	UTSW	16	19605922	missense	probably benign	0.00
R7252:Olfr170	UTSW	16	19606499	missense	probably damaging	0.99
R7605:Olfr170	UTSW	16	19606272	missense	probably damaging	1.00
R7687:Olfr170	UTSW	16	19605735	missense	probably benign
R8302:Olfr170	UTSW	16	19606366	missense	probably benign	0.05
R8991:Olfr170	UTSW	16	19605761	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAAGACTTTATCGTGTGCATC -3'
(R):5'- CCCTGCCATGTTGAAGTTGTC -3'

Sequencing Primer
(F):5'- ATCGTGTGCATCTCTATACAGAC -3'
(R):5'- GTTGTCATGTATAGACACAACACAC -3'

Posted On

2017-10-10