Mutagenetix > Incidental Mutations

Incidental Mutation 'R7952:Olfr578'

649616

Institutional Source

Beutler Lab

Gene Symbol

Olfr578

Ensembl Gene

ENSMUSG00000045792

Gene Name

olfactory receptor 578

Synonyms

MOR7-1, GA_x6K02T2PBJ9-5696486-5695545

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102981608-102989324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102984514 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 217 (F217L)

Ref Sequence

ENSEMBL: ENSMUSP00000149209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056235] [ENSMUST00000215606]

Predicted Effect

probably benign
Transcript: ENSMUST00000056235
AA Change: F217L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000058167
Gene: ENSMUSG00000045792
AA Change: F217L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	5e-130	PFAM
Pfam:7TM_GPCR_Srsx	37	309	1.6e-7	PFAM
Pfam:7tm_1	43	294	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215606
AA Change: F217L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0967

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,752,338	S516P	possibly damaging	Het
Adora1	A	G	1: 134,203,286	S216P	possibly damaging	Het
Arhgap17	G	T	7: 123,286,691	S739R	probably benign	Het
Bphl	A	G	13: 34,046,797	T75A	probably benign	Het
Ccdc73	G	A	2: 104,945,456		probably null	Het
Cela3b	T	C	4: 137,421,908	I262V	probably benign	Het
Chpf	T	C	1: 75,478,942	N55S	probably benign	Het
Chst8	A	G	7: 34,675,494	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 104,330,571	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,097,004		probably benign	Het
Cxadr	C	T	16: 78,334,235	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,748,661		probably null	Het
Dhx32	T	C	7: 133,748,996	Y115C	probably benign	Het
Dopey2	C	A	16: 93,749,960	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802	V1732A	possibly damaging	Het
Egf	C	T	3: 129,739,996	R65Q	probably damaging	Het
Fat4	T	G	3: 38,891,721	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,322,637	V588A	probably damaging	Het
Galnt3	C	T	2: 66,097,842	E237K	probably benign	Het
Gm7682	T	C	5: 94,447,043	V254A	probably benign	Het
Grik2	T	C	10: 49,422,537	I363V	probably benign	Het
Grik3	C	T	4: 125,704,547	T769I	probably damaging	Het
Hpd	A	T	5: 123,178,264	D141E	possibly damaging	Het
Hrc	A	T	7: 45,336,268	D281V	probably damaging	Het
Igfn1	A	T	1: 135,963,955	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,098,370	I502V	probably benign	Het
Kcnh8	A	T	17: 52,959,465	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,850,768	G2892R	unknown	Het
Lama4	T	G	10: 39,030,490	I284S	probably benign	Het
Madd	C	A	2: 91,162,541	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,951,211	F1421L	probably damaging	Het
Nadk	G	T	4: 155,577,067	D17Y	probably benign	Het
Nedd9	C	A	13: 41,316,955	D241Y	probably damaging	Het
Notch2	T	C	3: 98,100,236	V434A	probably benign	Het
Ofcc1	C	T	13: 40,280,305	R108Q	probably benign	Het
Olfr118	T	C	17: 37,672,817	Y265H	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prss55	A	G	14: 64,075,683	Y251H	probably damaging	Het
Rec8	T	C	14: 55,625,303	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,646,427		probably null	Het
Sec31b	A	G	19: 44,520,540	S667P	probably benign	Het
Smim17	A	G	7: 6,424,850	D45G	possibly damaging	Het
Sspo	A	G	6: 48,487,329	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,896,597	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,898,557	M1L	probably benign	Het
Tcrg-C4	T	A	13: 19,349,570	S121R		Het
Tpx2	C	T	2: 152,893,594	A714V	probably damaging	Het
Trmt1	G	A	8: 84,689,340	R9H	possibly damaging	Het
Unc13a	A	T	8: 71,658,487	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,502,327	I10N	probably damaging	Het
Xkr4	A	G	1: 3,670,619	S244P	possibly damaging	Het
Zkscan14	G	T	5: 145,195,898	H274Q	probably damaging	Het

Other mutations in Olfr578

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02580:Olfr578	APN	7	102984702	missense	probably damaging	0.97
IGL02658:Olfr578	APN	7	102984330	missense	probably benign	0.00
R0833:Olfr578	UTSW	7	102984836	missense	possibly damaging	0.50
R1470:Olfr578	UTSW	7	102984323	nonsense	probably null
R1470:Olfr578	UTSW	7	102984323	nonsense	probably null
R2029:Olfr578	UTSW	7	102984271	missense	probably damaging	0.99
R2249:Olfr578	UTSW	7	102984440	missense	possibly damaging	0.74
R2413:Olfr578	UTSW	7	102984802	missense	probably damaging	1.00
R2898:Olfr578	UTSW	7	102984877	missense	probably benign	0.19
R4441:Olfr578	UTSW	7	102984309	missense	possibly damaging	0.65
R5696:Olfr578	UTSW	7	102984541	missense	probably benign	0.02
R6810:Olfr578	UTSW	7	102984835	missense	probably damaging	1.00
R7263:Olfr578	UTSW	7	102984317	nonsense	probably null
R7366:Olfr578	UTSW	7	102984516	missense	probably damaging	1.00
X0022:Olfr578	UTSW	7	102985026	missense	probably benign	0.02
X0028:Olfr578	UTSW	7	102984343	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGTAGACAATGGGGTTC -3'
(R):5'- AGAAGTGCACTCCTCATTCTCC -3'

Sequencing Primer
(F):5'- CTGTAGACAATGGGGTTCATGAG -3'
(R):5'- AAGTGCACTCCTCATTCTCCCATTAC -3'

Posted On

2020-09-15