Mutagenetix > Incidental Mutation

Incidental Mutation 'R2267:Or51f1d'

242130

Institutional Source

Beutler Lab

Gene Symbol

Or51f1d

Ensembl Gene

ENSMUSG00000073960

Gene Name

olfactory receptor family 51 subfamily F member 1D

Synonyms

Olfr583, GA_x6K02T2PBJ9-5762668-5763618, MOR14-6

MMRRC Submission

040267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R2267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102700507-102701466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102701344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 280 (V280I)

Ref Sequence

ENSEMBL: ENSMUSP00000095812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098211]

AlphaFold

Q8VG25

Predicted Effect

probably benign
Transcript: ENSMUST00000098211
AA Change: V280I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095812
Gene: ENSMUSG00000073960
AA Change: V280I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	319	9.1e-107	PFAM
Pfam:7TM_GPCR_Srsx	45	316	1.4e-5	PFAM
Pfam:7tm_1	50	301	9.6e-20	PFAM

Meta Mutation Damage Score

0.0853

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (108/110)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Abca8b	G	A	11: 109,845,974 (GRCm39)	T820M	probably benign	Het
Acot2	C	T	12: 84,037,334 (GRCm39)	A216V	probably damaging	Het
Agap2	T	A	10: 126,918,297 (GRCm39)		probably benign	Het
Ak7	T	C	12: 105,713,473 (GRCm39)	V419A	probably benign	Het
Apmap	A	G	2: 150,430,821 (GRCm39)		probably null	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Cachd1	T	A	4: 100,806,266 (GRCm39)		probably benign	Het
Ccdc39	T	A	3: 33,869,633 (GRCm39)	E731D	probably damaging	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgke	T	A	11: 88,943,295 (GRCm39)	E231D	probably benign	Het
Dhrs9	A	G	2: 69,223,197 (GRCm39)		probably benign	Het
Dhx30	C	T	9: 109,916,102 (GRCm39)	G662R	probably damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnah7b	T	A	1: 46,273,075 (GRCm39)	M2401K	probably damaging	Het
Dnmt3a	T	A	12: 3,947,551 (GRCm39)		probably null	Het
Dst	C	T	1: 34,334,547 (GRCm39)	T4874I	probably damaging	Het
Eef2kmt	G	A	16: 5,073,804 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,727,859 (GRCm39)	T107A	probably damaging	Het
Etfa	A	T	9: 55,394,015 (GRCm39)	L212Q	probably damaging	Het
Exosc5	T	C	7: 25,363,809 (GRCm39)	L107P	possibly damaging	Het
Fam117b	T	C	1: 59,952,789 (GRCm39)	L156P	probably damaging	Het
Fam186b	T	G	15: 99,183,524 (GRCm39)	D40A	probably damaging	Het
Fga	T	C	3: 82,940,257 (GRCm39)	L637P	probably damaging	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gcc1	A	G	6: 28,418,498 (GRCm39)	S612P	probably benign	Het
Gjd3	C	T	11: 98,873,227 (GRCm39)	V206M	probably damaging	Het
Gpam	A	T	19: 55,061,142 (GRCm39)		probably null	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Gphb5	C	G	12: 75,459,720 (GRCm39)	V92L	probably benign	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
Gsdmc	T	C	15: 63,648,647 (GRCm39)	E429G	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hmcn1	T	C	1: 150,474,761 (GRCm39)	S4709G	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Itih4	A	G	14: 30,614,385 (GRCm39)	D445G	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnt2	G	A	1: 140,501,421 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Klrb1	A	T	6: 128,699,937 (GRCm39)	S25T	probably damaging	Het
L3mbtl3	C	T	10: 26,207,755 (GRCm39)	W321*	probably null	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lrrtm1	C	A	6: 77,220,996 (GRCm39)	A151E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Mcc	T	C	18: 44,652,608 (GRCm39)	D272G	probably damaging	Het
Mgst3	T	A	1: 167,201,368 (GRCm39)	T106S	probably benign	Het
Mink1	G	A	11: 70,492,550 (GRCm39)		probably null	Het
Mlh3	G	T	12: 85,307,585 (GRCm39)	H1181N	possibly damaging	Het
Mmrn2	A	G	14: 34,121,449 (GRCm39)	K773R	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mro	T	C	18: 74,006,368 (GRCm39)	I104T	probably benign	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Nbeal1	T	A	1: 60,370,037 (GRCm39)		probably benign	Het
Neurod2	C	A	11: 98,218,582 (GRCm39)	C194F	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Nup205	T	C	6: 35,218,284 (GRCm39)	S1819P	possibly damaging	Het
Obsl1	T	C	1: 75,482,342 (GRCm39)	H176R	probably damaging	Het
Or7g21	A	T	9: 19,032,737 (GRCm39)	H162L	probably benign	Het
Or8d2b	A	G	9: 38,789,359 (GRCm39)	T296A	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Phka1	A	G	X: 101,584,716 (GRCm39)		probably benign	Het
Plxnd1	A	G	6: 115,939,704 (GRCm39)	V1425A	probably benign	Het
Ppp2ca	G	A	11: 52,008,913 (GRCm39)	G138R	probably damaging	Het
Ptpn12	A	T	5: 21,203,409 (GRCm39)	N456K	probably damaging	Het
Scarb1	A	T	5: 125,364,439 (GRCm39)	S97T	possibly damaging	Het
Scyl1	C	T	19: 5,811,749 (GRCm39)	D440N	possibly damaging	Het
Sema5a	C	A	15: 32,575,065 (GRCm39)	T391K	probably benign	Het
Sipa1l3	T	A	7: 29,099,027 (GRCm39)	N414I	probably damaging	Het
Skint6	T	C	4: 112,700,019 (GRCm39)		probably null	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spib	T	A	7: 44,178,348 (GRCm39)	M141L	probably benign	Het
Srebf1	A	G	11: 60,097,973 (GRCm39)	S44P	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Taf15	T	G	11: 83,388,088 (GRCm39)	S200R	probably damaging	Het
Tanc1	G	A	2: 59,667,563 (GRCm39)		probably null	Het
Tas2r134	A	G	2: 51,518,249 (GRCm39)	T243A	probably benign	Het
Tatdn1	A	T	15: 58,777,601 (GRCm39)	M218K	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,400,744 (GRCm39)		probably null	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tmprss11d	A	G	5: 86,521,208 (GRCm39)	Y2H	probably benign	Het
Trps1	G	A	15: 50,685,794 (GRCm39)	R544C	probably damaging	Het
Ttc22	T	C	4: 106,496,282 (GRCm39)	V444A	possibly damaging	Het
Ttc28	A	G	5: 111,373,869 (GRCm39)	T1071A	possibly damaging	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Ube2j1	T	A	4: 33,049,943 (GRCm39)	F257I	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Wwp1	T	C	4: 19,638,618 (GRCm39)	D575G	probably damaging	Het

Other mutations in Or51f1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Or51f1d	APN	7	102,700,582 (GRCm39)	missense	probably benign	0.02
IGL02200:Or51f1d	APN	7	102,701,000 (GRCm39)	missense	probably benign
IGL02412:Or51f1d	APN	7	102,701,359 (GRCm39)	missense	probably benign	0.01
IGL02452:Or51f1d	APN	7	102,701,138 (GRCm39)	missense	probably benign	0.00
IGL02859:Or51f1d	APN	7	102,701,345 (GRCm39)	missense	probably benign	0.00
IGL03078:Or51f1d	APN	7	102,701,036 (GRCm39)	missense	probably damaging	1.00
R0675:Or51f1d	UTSW	7	102,700,909 (GRCm39)	missense	probably benign	0.22
R1474:Or51f1d	UTSW	7	102,701,288 (GRCm39)	missense	probably damaging	1.00
R1531:Or51f1d	UTSW	7	102,700,795 (GRCm39)	missense	probably benign	0.00
R1535:Or51f1d	UTSW	7	102,700,576 (GRCm39)	missense	probably benign	0.14
R1777:Or51f1d	UTSW	7	102,700,583 (GRCm39)	missense	probably benign	0.41
R1883:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R1884:Or51f1d	UTSW	7	102,701,189 (GRCm39)	missense	probably benign	0.00
R2265:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2269:Or51f1d	UTSW	7	102,701,344 (GRCm39)	missense	probably benign	0.00
R2299:Or51f1d	UTSW	7	102,700,789 (GRCm39)	missense	probably damaging	0.99
R3802:Or51f1d	UTSW	7	102,701,372 (GRCm39)	missense	probably benign	0.05
R4239:Or51f1d	UTSW	7	102,701,003 (GRCm39)	missense	probably benign	0.17
R4426:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00
R5335:Or51f1d	UTSW	7	102,700,742 (GRCm39)	missense	probably damaging	1.00
R6048:Or51f1d	UTSW	7	102,700,526 (GRCm39)	missense	probably benign	0.00
R6270:Or51f1d	UTSW	7	102,700,538 (GRCm39)	missense	probably benign	0.27
R6837:Or51f1d	UTSW	7	102,700,929 (GRCm39)	nonsense	probably null
R7257:Or51f1d	UTSW	7	102,700,837 (GRCm39)	missense	probably benign	0.39
R8506:Or51f1d	UTSW	7	102,700,709 (GRCm39)	missense	probably damaging	1.00
R8947:Or51f1d	UTSW	7	102,701,315 (GRCm39)	missense	probably damaging	0.99
R9638:Or51f1d	UTSW	7	102,701,018 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAGGGGTAGATATTCCCTG -3'
(R):5'- ATCGAATGGGGAAATCTCCAACC -3'

Sequencing Primer
(F):5'- ACAGGGGTAGATATTCCCTGCATTG -3'
(R):5'- TGGGGAAATCTCCAACCACATTTG -3'

Posted On

2014-10-16