Mutagenetix > Incidental Mutations

Incidental Mutation 'R3276:Olfr584'

475826

Institutional Source

Beutler Lab

Gene Symbol

Olfr584

Ensembl Gene

ENSMUSG00000073959

Gene Name

olfactory receptor 584

Synonyms

GA_x6K02T2PBJ9-5796876-5797820, MOR30-2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103081885-103088315 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103085750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 72 (D72E)

Ref Sequence

ENSEMBL: ENSMUSP00000151043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098210] [ENSMUST00000211036] [ENSMUST00000214215]

AlphaFold

Q8VGW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000098210
AA Change: D77E

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

SMART Domains

Protein: ENSMUSP00000095811
Gene: ENSMUSG00000073959
AA Change: D77E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	317	1.4e-110	PFAM
Pfam:7TM_GPCR_Srsx	42	234	2.1e-9	PFAM
Pfam:7tm_1	48	299	4.6e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211036
AA Change: D72E

Predicted Effect

probably damaging
Transcript: ENSMUST00000214215
AA Change: D72E

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

Meta Mutation Damage Score

0.3246

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998		probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404		probably benign	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Ranbp1	T	C	16: 18,247,429		probably benign	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Olfr584

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Olfr584	APN	7	103086375	missense	probably benign	0.00
IGL02113:Olfr584	APN	7	103085850	missense	possibly damaging	0.95
IGL02398:Olfr584	APN	7	103086106	missense	probably damaging	1.00
IGL02718:Olfr584	APN	7	103085583	missense	probably benign	0.01
IGL02941:Olfr584	APN	7	103086321	missense	probably benign	0.05
IGL02942:Olfr584	APN	7	103086198	missense	probably benign	0.07
R0496:Olfr584	UTSW	7	103085590	missense	probably damaging	1.00
R0511:Olfr584	UTSW	7	103085851	missense	probably damaging	1.00
R0646:Olfr584	UTSW	7	103086151	missense	probably damaging	0.99
R1652:Olfr584	UTSW	7	103085806	missense	probably benign	0.04
R2312:Olfr584	UTSW	7	103086426	missense	probably damaging	0.99
R2849:Olfr584	UTSW	7	103086112	missense	probably damaging	1.00
R2937:Olfr584	UTSW	7	103086341	missense	probably benign	0.01
R3176:Olfr584	UTSW	7	103085750	missense	probably damaging	1.00
R3708:Olfr584	UTSW	7	103086294	missense	probably damaging	1.00
R4737:Olfr584	UTSW	7	103085914	missense	probably damaging	1.00
R5045:Olfr584	UTSW	7	103086457	missense	probably benign	0.00
R5172:Olfr584	UTSW	7	103085677	missense	probably damaging	1.00
R5849:Olfr584	UTSW	7	103085521	start codon destroyed	probably null	0.02
R6294:Olfr584	UTSW	7	103085667	missense	probably benign	0.01
R6846:Olfr584	UTSW	7	103086058	missense	possibly damaging	0.88
R6869:Olfr584	UTSW	7	103085868	missense	possibly damaging	0.47
R6936:Olfr584	UTSW	7	103085814	missense	probably damaging	0.97
R7133:Olfr584	UTSW	7	103085998	missense	probably damaging	0.99
R7724:Olfr584	UTSW	7	103086263	nonsense	probably null
R7772:Olfr584	UTSW	7	103086181	missense	probably benign	0.23
R9341:Olfr584	UTSW	7	103086117	nonsense	probably null
R9343:Olfr584	UTSW	7	103086117	nonsense	probably null

Predicted Primers

Posted On

2017-05-11