Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Or5p66'

545450

Institutional Source

Beutler Lab

Gene Symbol

Or5p66

Ensembl Gene

ENSMUSG00000109884

Gene Name

olfactory receptor family 5 subfamily P member 66

Synonyms

Olfr490, GA_x6K02T2PBJ9-10617173-10616229, MOR204-17

MMRRC Submission

045119-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107885387-107886331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107885551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 261 (I261L)

Ref Sequence

ENSEMBL: ENSMUSP00000147922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000210114] [ENSMUST00000211345]

AlphaFold

Q8VFD2

Predicted Effect

probably benign
Transcript: ENSMUST00000210114
AA Change: I261L

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000211345
AA Change: I261L

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1605

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

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
Apcdd1	G	T	18: 63,070,120 (GRCm39)	R129L	probably damaging	Het
Arhgef28	C	T	13: 98,101,943 (GRCm39)	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,265,665 (GRCm39)	V1569A	probably damaging	Het
Atr	T	A	9: 95,748,747 (GRCm39)	S431T	probably benign	Het
Cdh11	T	C	8: 103,360,953 (GRCm39)	D795G	possibly damaging	Het
Crygf	T	C	1: 65,967,130 (GRCm39)	S85P	probably benign	Het
Dip2c	T	A	13: 9,709,314 (GRCm39)	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,454,509 (GRCm39)	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,461,795 (GRCm39)	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,314,013 (GRCm39)	S576C	probably damaging	Het
Frmd8	T	C	19: 5,919,546 (GRCm39)	D167G	probably damaging	Het
Gm5105	G	A	3: 137,755,319 (GRCm39)	T89I	unknown	Het
Grhl1	C	T	12: 24,625,996 (GRCm39)	S35L	possibly damaging	Het
Gsn	A	G	2: 35,183,518 (GRCm39)	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,029,661 (GRCm39)	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,431,135 (GRCm39)	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,275,985 (GRCm39)	Y51C	probably damaging	Het
Iqcj	T	A	3: 67,948,580 (GRCm39)	Y21*	probably null	Het
Kcnc4	T	C	3: 107,366,178 (GRCm39)	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,756,160 (GRCm39)	G129W	probably damaging	Het
Kcnq2	T	A	2: 180,723,517 (GRCm39)	R620*	probably null	Het
Klk13	C	A	7: 43,376,126 (GRCm39)	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Lamc2	T	A	1: 153,012,488 (GRCm39)	M729L	probably benign	Het
Lyst	T	G	13: 13,918,044 (GRCm39)		probably null	Het
Med13l	G	A	5: 118,890,051 (GRCm39)	R1909H	probably damaging	Het
Mstn	T	A	1: 53,103,243 (GRCm39)	L193Q	possibly damaging	Het
Mylk	T	C	16: 34,820,796 (GRCm39)	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,647,233 (GRCm39)	M547L	probably damaging	Het
Nckap5	A	G	1: 125,952,785 (GRCm39)	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118 (GRCm38)	Y189C	probably damaging	Het
Oosp3	T	A	19: 11,676,783 (GRCm39)	D47E	probably benign	Het
Or14j8	A	T	17: 38,263,393 (GRCm39)	I174N	probably damaging	Het
Or5d37	T	A	2: 87,923,600 (GRCm39)	I227F	probably benign	Het
Or5h25	A	G	16: 58,930,970 (GRCm39)	M1T	probably null	Het
Pcdh15	G	T	10: 74,302,186 (GRCm39)	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,840,625 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,711,838 (GRCm39)	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plscr1	T	A	9: 92,146,715 (GRCm39)	V119D	probably damaging	Het
Prss56	A	T	1: 87,113,670 (GRCm39)	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,214,884 (GRCm39)	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,037,159 (GRCm39)	S7Y	probably benign	Het
Rnf31	T	C	14: 55,829,690 (GRCm39)	L85P	probably damaging	Het
Rptn	T	C	3: 93,305,207 (GRCm39)	C847R	possibly damaging	Het
Six4	T	A	12: 73,155,727 (GRCm39)	E413D	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Sned1	T	C	1: 93,212,143 (GRCm39)	V1115A	probably damaging	Het
Spen	T	C	4: 141,220,755 (GRCm39)	K401E	unknown	Het
Srbd1	T	A	17: 86,443,843 (GRCm39)	R128W	possibly damaging	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627 (GRCm39)	T230P	probably benign	Het
Thumpd2	G	T	17: 81,363,326 (GRCm39)	S47*	probably null	Het
Tmprss11a	C	T	5: 86,576,429 (GRCm39)	V141I	probably damaging	Het
Tmprss15	T	C	16: 78,821,741 (GRCm39)	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,333,914 (GRCm39)	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,523,610 (GRCm39)	W90R	probably benign	Het
Utp25	A	G	1: 192,797,163 (GRCm39)	I563T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,272,536 (GRCm39)		probably null	Het
Zfp646	C	A	7: 127,481,494 (GRCm39)	Q1224K	probably benign	Het

Other mutations in Or5p66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0395:Or5p66	UTSW	7	107,885,478 (GRCm39)	missense	probably benign	0.00
R0634:Or5p66	UTSW	7	107,885,503 (GRCm39)	missense	probably benign	0.00
R0940:Or5p66	UTSW	7	107,886,264 (GRCm39)	missense	probably benign	0.01
R1990:Or5p66	UTSW	7	107,885,566 (GRCm39)	nonsense	probably null
R1991:Or5p66	UTSW	7	107,885,566 (GRCm39)	nonsense	probably null
R2860:Or5p66	UTSW	7	107,886,169 (GRCm39)	missense	probably damaging	0.98
R2861:Or5p66	UTSW	7	107,886,169 (GRCm39)	missense	probably damaging	0.98
R3712:Or5p66	UTSW	7	107,885,663 (GRCm39)	nonsense	probably null
R4735:Or5p66	UTSW	7	107,885,520 (GRCm39)	missense	probably benign
R4895:Or5p66	UTSW	7	107,885,802 (GRCm39)	missense	probably damaging	0.97
R4976:Or5p66	UTSW	7	107,885,818 (GRCm39)	missense	probably damaging	1.00
R5686:Or5p66	UTSW	7	107,885,949 (GRCm39)	missense	probably damaging	1.00
R5719:Or5p66	UTSW	7	107,885,599 (GRCm39)	missense	probably damaging	0.97
R5883:Or5p66	UTSW	7	107,885,451 (GRCm39)	missense	probably damaging	1.00
R5911:Or5p66	UTSW	7	107,885,605 (GRCm39)	missense	probably damaging	1.00
R6452:Or5p66	UTSW	7	107,886,100 (GRCm39)	missense	probably damaging	1.00
R7233:Or5p66	UTSW	7	107,885,923 (GRCm39)	missense	probably benign	0.36
R8085:Or5p66	UTSW	7	107,885,620 (GRCm39)	missense	probably benign	0.01
R8166:Or5p66	UTSW	7	107,885,904 (GRCm39)	missense	probably benign	0.06
R8919:Or5p66	UTSW	7	107,886,289 (GRCm39)	missense	probably damaging	1.00
R9209:Or5p66	UTSW	7	107,885,526 (GRCm39)	missense	probably benign	0.06
R9612:Or5p66	UTSW	7	107,885,487 (GRCm39)	missense	probably benign
R9789:Or5p66	UTSW	7	107,885,898 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCAAAGCCTGGTTAAATTTGGATC -3'
(R):5'- AGCTCTCGTGTTCTGATGTCAG -3'

Sequencing Primer
(F):5'- TGGATCATAACATGTATCCCCC -3'
(R):5'- GTTGTTATTTCATTTTCTGCTGGCAC -3'

Posted On

2019-05-13