Mutagenetix > Incidental Mutation

Incidental Mutation 'R8525:Olfr523'

658766

Institutional Source

Beutler Lab

Gene Symbol

Olfr523

Ensembl Gene

ENSMUSG00000051051

Gene Name

olfactory receptor 523

Synonyms

MOR104-4, GA_x6K02T2PBJ9-42327937-42328872

MMRRC Submission

067950-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140173217-140178758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140176342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 74 (I74T)

Ref Sequence

ENSEMBL: ENSMUSP00000149562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055890] [ENSMUST00000209314] [ENSMUST00000213953] [ENSMUST00000214272] [ENSMUST00000215785] [ENSMUST00000216023]

AlphaFold

Q8VFE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055890
AA Change: I80T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052678
Gene: ENSMUSG00000051051
AA Change: I80T

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:7tm_4	40	317	1.6e-50	PFAM
Pfam:7tm_1	50	299	1.6e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209314
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213953
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214272
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215785
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216023
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	T	7: 27,556,511 (GRCm38)	N8Y	possibly damaging	Het
4932414N04Rik	A	T	2: 68,729,034 (GRCm38)	D197V	possibly damaging	Het
Aar2	G	A	2: 156,555,917 (GRCm38)	R283Q	probably benign	Het
Acsf2	T	A	11: 94,572,620 (GRCm38)	I119F	probably benign	Het
Adamtsl1	C	T	4: 86,277,010 (GRCm38)	P572S	probably damaging	Het
Adh5	A	T	3: 138,451,334 (GRCm38)	I219F	probably damaging	Het
Arhgap23	T	A	11: 97,490,084 (GRCm38)	F1098I	probably damaging	Het
Bicc1	G	T	10: 70,943,535 (GRCm38)	H674Q	possibly damaging	Het
Ccdc39	C	T	3: 33,814,704 (GRCm38)	R786H	probably benign	Het
Ccr1l1	A	G	9: 123,977,552 (GRCm38)	I286T	possibly damaging	Het
Ccr9	T	A	9: 123,779,667 (GRCm38)	M138K	probably benign	Het
Dbh	T	C	2: 27,165,786 (GRCm38)	F91L	probably benign	Het
Dip2a	T	A	10: 76,274,281 (GRCm38)		probably null	Het
Eif3j1	A	G	2: 122,050,510 (GRCm38)	I148V	probably damaging	Het
Etl4	A	G	2: 20,530,081 (GRCm38)	R116G	probably damaging	Het
Exoc6	C	A	19: 37,608,992 (GRCm38)	Q614K	possibly damaging	Het
Gabpb1	A	G	2: 126,652,274 (GRCm38)	S144P	possibly damaging	Het
Galnt13	G	A	2: 55,060,476 (GRCm38)	V390M	possibly damaging	Het
Gimap5	T	C	6: 48,752,567 (GRCm38)	S24P	probably benign	Het
Gm4778	A	G	3: 94,266,555 (GRCm38)	N290S	probably benign	Het
Gm4924	T	A	10: 82,377,867 (GRCm38)		probably benign	Het
Gucy1a2	T	A	9: 3,865,365 (GRCm38)	I613K	probably damaging	Het
Hsp90ab1	T	A	17: 45,569,800 (GRCm38)	E115D	probably benign	Het
Hspg2	T	C	4: 137,539,448 (GRCm38)	V1949A	probably damaging	Het
Ice2	A	G	9: 69,411,416 (GRCm38)	Y294C	probably damaging	Het
Il17ra	T	G	6: 120,474,337 (GRCm38)	Y157*	probably null	Het
Ipo13	T	C	4: 117,904,929 (GRCm38)	E416G	probably damaging	Het
Large1	C	T	8: 72,837,492 (GRCm38)	V549M	probably damaging	Het
Mmp17	A	G	5: 129,602,207 (GRCm38)	D390G	probably damaging	Het
Mrps10	T	G	17: 47,372,446 (GRCm38)	I102R	probably damaging	Het
Mycbp2	A	G	14: 103,212,719 (GRCm38)	L1712P	probably damaging	Het
Nipal2	A	G	15: 34,584,669 (GRCm38)	M251T	probably damaging	Het
Nup160	G	A	2: 90,718,096 (GRCm38)		probably null	Het
Olfr201	A	T	16: 59,269,208 (GRCm38)	V153D	probably benign	Het
Pdcd11	G	A	19: 47,092,898 (GRCm38)	D34N	possibly damaging	Het
Pigb	G	T	9: 73,017,527 (GRCm38)	P450Q	probably damaging	Het
Radil	A	C	5: 142,488,501 (GRCm38)	L730R	probably damaging	Het
Rsbn1	G	T	3: 103,914,222 (GRCm38)		probably benign	Het
Sec24b	T	C	3: 130,011,818 (GRCm38)	D264G	probably damaging	Het
Shank3	C	G	15: 89,547,770 (GRCm38)	S906C	probably damaging	Het
Slc1a3	A	G	15: 8,642,975 (GRCm38)	V340A	possibly damaging	Het
Slc1a3	A	T	15: 8,650,939 (GRCm38)	I145N	possibly damaging	Het
Slc35f4	A	T	14: 49,304,224 (GRCm38)	S208T	possibly damaging	Het
Tmem132b	A	G	5: 125,638,316 (GRCm38)	D363G	probably benign	Het
Tox3	T	G	8: 90,274,681 (GRCm38)	N34T	probably damaging	Het
Vmn1r231	T	A	17: 20,889,739 (GRCm38)	I305L	probably benign	Het
Vps18	A	G	2: 119,290,230 (GRCm38)	I57V	possibly damaging	Het
Zfhx4	T	G	3: 5,399,543 (GRCm38)	L1587R	probably damaging	Het
Zfp112	A	G	7: 24,125,897 (GRCm38)	N430S	probably benign	Het

Other mutations in Olfr523

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Olfr523	APN	7	140,176,615 (GRCm38)	missense	probably damaging	1.00
IGL01759:Olfr523	APN	7	140,176,534 (GRCm38)	missense	probably benign	0.00
D3080:Olfr523	UTSW	7	140,176,362 (GRCm38)	missense	possibly damaging	0.94
R0503:Olfr523	UTSW	7	140,176,441 (GRCm38)	missense	possibly damaging	0.95
R1644:Olfr523	UTSW	7	140,176,648 (GRCm38)	missense	probably benign	0.12
R1760:Olfr523	UTSW	7	140,176,275 (GRCm38)	missense	probably damaging	1.00
R1852:Olfr523	UTSW	7	140,176,561 (GRCm38)	nonsense	probably null
R1960:Olfr523	UTSW	7	140,176,683 (GRCm38)	missense	probably benign	0.37
R2363:Olfr523	UTSW	7	140,176,965 (GRCm38)	missense	probably damaging	1.00
R3700:Olfr523	UTSW	7	140,176,214 (GRCm38)	missense	possibly damaging	0.54
R4626:Olfr523	UTSW	7	140,176,446 (GRCm38)	missense	probably damaging	1.00
R4678:Olfr523	UTSW	7	140,176,228 (GRCm38)	missense	probably benign	0.21
R4779:Olfr523	UTSW	7	140,176,450 (GRCm38)	missense	probably damaging	1.00
R4999:Olfr523	UTSW	7	140,177,020 (GRCm38)	missense	probably damaging	1.00
R5663:Olfr523	UTSW	7	140,176,321 (GRCm38)	missense	probably damaging	1.00
R7352:Olfr523	UTSW	7	140,176,525 (GRCm38)	missense	probably damaging	1.00
R8976:Olfr523	UTSW	7	140,176,972 (GRCm38)	missense	probably damaging	0.96
R9034:Olfr523	UTSW	7	140,176,971 (GRCm38)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AGTACTGGCCAGAACCTGTC -3'
(R):5'- GTGTCATGATGCCACCGTAG -3'

Sequencing Primer
(F):5'- CAGGACCATTCATCTTGCTGGG -3'
(R):5'- ATGCCACCGTAGCGCAG -3'

Posted On

2021-01-18