Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Olfr484'

201619

Institutional Source

Beutler Lab

Gene Symbol

Olfr484

Ensembl Gene

ENSMUSG00000110171

Gene Name

olfactory receptor 484

Synonyms

MOR204-16, GA_x6K02T2PBJ9-10454128-10453163

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108120691-108127449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108124915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 116 (F116S)

Ref Sequence

ENSEMBL: ENSMUSP00000150774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000210881] [ENSMUST00000214722]

AlphaFold

Q8VFD3

Predicted Effect

probably benign
Transcript: ENSMUST00000073580
AA Change: F116S

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073267
Gene: ENSMUSG00000059996
AA Change: F116S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.5e-53	PFAM
Pfam:7tm_1	44	293	4.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157612

Predicted Effect

probably benign
Transcript: ENSMUST00000210881
AA Change: F116S

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000214722
AA Change: F116S

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993		probably null	Het
Chrna5	T	C	9: 55,004,651	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305		probably null	Het
Col5a2	T	C	1: 45,394,776	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057		probably benign	Het
Grin3b	T	C	10: 79,973,408	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512		probably null	Het
Itgb8	T	C	12: 119,202,455	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074		probably benign	Het
L3mbtl1	A	G	2: 162,974,502	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Myo10	T	G	15: 25,726,525		probably null	Het
Myo1e	T	A	9: 70,338,784	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697	F83C	probably damaging	Het
Olfr804	T	C	10: 129,705,607	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459		probably benign	Het
Spag17	T	A	3: 99,939,356	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488		probably benign	Het
Stil	T	A	4: 115,041,782	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246	Q478*	probably null	Het
Tg	A	T	15: 66,737,548	Q319L	probably benign	Het
Thada	G	T	17: 84,448,034	L243I	probably damaging	Het
Thada	A	G	17: 84,448,033	L243P	probably damaging	Het
Tnnt3	A	G	7: 142,512,364	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435		probably null	Het
Zfp277	A	G	12: 40,364,085	F254L	probably benign	Het

Other mutations in Olfr484

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Olfr484	APN	7	108125164	missense	possibly damaging	0.88
IGL01899:Olfr484	APN	7	108124841	missense	probably benign	0.01
IGL02124:Olfr484	APN	7	108125042	missense	probably benign	0.01
IGL02622:Olfr484	APN	7	108124388	missense	probably damaging	1.00
IGL03188:Olfr484	APN	7	108124634	missense	probably benign	0.00
R0389:Olfr484	UTSW	7	108124816	missense	probably benign	0.00
R0443:Olfr484	UTSW	7	108124816	missense	probably benign	0.00
R0731:Olfr484	UTSW	7	108124734	missense	probably benign	0.12
R1061:Olfr484	UTSW	7	108124456	missense	probably damaging	1.00
R1505:Olfr484	UTSW	7	108124993	missense	probably benign	0.00
R1591:Olfr484	UTSW	7	108124364	missense	possibly damaging	0.56
R2988:Olfr484	UTSW	7	108124838	nonsense	probably null
R4778:Olfr484	UTSW	7	108124480	missense	possibly damaging	0.95
R5288:Olfr484	UTSW	7	108125168	missense	probably benign	0.00
R5644:Olfr484	UTSW	7	108124651	missense	probably benign	0.04
R6112:Olfr484	UTSW	7	108125162	missense	probably benign	0.01
R6351:Olfr484	UTSW	7	108124430	missense	probably damaging	1.00
R6934:Olfr484	UTSW	7	108124819	missense	probably benign	0.14
R7094:Olfr484	UTSW	7	108124633	missense	probably benign	0.35
R7135:Olfr484	UTSW	7	108124574	missense	probably damaging	0.99
R7422:Olfr484	UTSW	7	108124861	missense	probably damaging	1.00
R7660:Olfr484	UTSW	7	108124834	missense	probably benign	0.04
R7916:Olfr484	UTSW	7	108125122	missense	possibly damaging	0.59
R8489:Olfr484	UTSW	7	108125165	missense	probably benign	0.03
R9204:Olfr484	UTSW	7	108124728	missense	possibly damaging	0.75
R9526:Olfr484	UTSW	7	108124594	missense	probably benign	0.06
X0021:Olfr484	UTSW	7	108125107	missense	probably damaging	1.00
X0025:Olfr484	UTSW	7	108124399	nonsense	probably null
Z1176:Olfr484	UTSW	7	108124879	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTTTGGTCCACAGAAGAACAAG -3'
(R):5'- CCTGGTTACTGTGTCTGGGAAC -3'

Sequencing Primer
(F):5'- TGGACACAGACTTGTGTG -3'
(R):5'- GCACCATCCTTCTCATCAGAG -3'

Posted On

2014-06-23