Mutagenetix > Incidental Mutation

Incidental Mutation 'R6310:Or51f1'

509539

Institutional Source

Beutler Lab

Gene Symbol

Or51f1

Ensembl Gene

ENSMUSG00000060888

Gene Name

olfactory receptor family 51 subfamily F member 1

Synonyms

MOR14-7P, Olfr566, GA_x6K02T2PBJ9-5560696-5559746

MMRRC Submission

044414-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102505528-102507972 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102506412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 26 (I26F)

Ref Sequence

ENSEMBL: ENSMUSP00000148998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071393] [ENSMUST00000209952] [ENSMUST00000213481]

AlphaFold

A0A1B0GST0

Predicted Effect

probably benign
Transcript: ENSMUST00000071393
AA Change: I23F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000071344
Gene: ENSMUSG00000060888
AA Change: I23F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	316	1e-110	PFAM
Pfam:7TM_GPCR_Srsx	42	313	3.5e-6	PFAM
Pfam:7tm_1	47	298	9.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209952
AA Change: I26F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210522

Predicted Effect

probably benign
Transcript: ENSMUST00000213481
AA Change: I26F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,373,046 (GRCm39)	G856A	possibly damaging	Het
Adgrb3	T	A	1: 25,150,799 (GRCm39)	M1145L	probably benign	Het
Akap13	A	T	7: 75,398,941 (GRCm39)	H2673L	probably damaging	Het
Bmpr1b	A	G	3: 141,570,297 (GRCm39)	S131P	probably damaging	Het
Cep72	A	C	13: 74,201,144 (GRCm39)	S175A	possibly damaging	Het
Chd2	C	T	7: 73,102,912 (GRCm39)	E1358K	probably damaging	Het
Cmip	T	C	8: 118,156,549 (GRCm39)	I308T	possibly damaging	Het
Cps1	A	T	1: 67,182,140 (GRCm39)	N118I	probably benign	Het
Cux1	C	T	5: 136,304,018 (GRCm39)	G1265D	probably benign	Het
Ddx24	C	A	12: 103,390,166 (GRCm39)	R275L	probably damaging	Het
Dhx58	T	C	11: 100,590,193 (GRCm39)	S364G	probably benign	Het
Dis3l	A	C	9: 64,229,857 (GRCm39)	V274G	probably benign	Het
Fryl	A	T	5: 73,349,104 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,268,444 (GRCm39)	H1272R	probably damaging	Het
Gjb3	A	G	4: 127,220,433 (GRCm39)	V33A	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm9964	T	C	11: 79,187,476 (GRCm39)		probably benign	Het
Grk5	T	C	19: 61,069,349 (GRCm39)	I342T	probably damaging	Het
Hnf1b	T	A	11: 83,795,737 (GRCm39)	C527S	probably damaging	Het
Hoxd4	G	T	2: 74,558,734 (GRCm39)	A186S	possibly damaging	Het
Ighv1-78	G	A	12: 115,832,584 (GRCm39)	H54Y	probably benign	Het
Intu	T	A	3: 40,655,721 (GRCm39)	L936*	probably null	Het
Kcp	G	A	6: 29,493,257 (GRCm39)	R89W	probably damaging	Het
Kctd3	T	C	1: 188,704,435 (GRCm39)	T779A	probably benign	Het
Muc16	G	A	9: 18,553,246 (GRCm39)	P4349L	probably benign	Het
Nedd9	T	C	13: 41,471,928 (GRCm39)	T178A	probably benign	Het
Nuak2	G	T	1: 132,257,699 (GRCm39)	A204S	probably damaging	Het
Or6c214	T	C	10: 129,590,528 (GRCm39)	R264G	probably benign	Het
Pcdhac2	C	A	18: 37,278,824 (GRCm39)	Y601*	probably null	Het
Pla2g4a	T	A	1: 149,717,977 (GRCm39)	D624V	possibly damaging	Het
Plxnb1	T	C	9: 108,938,796 (GRCm39)	V1386A	probably damaging	Het
Plxnd1	T	A	6: 115,953,697 (GRCm39)	L623F	possibly damaging	Het
Pms2	T	A	5: 143,860,401 (GRCm39)	S71R	probably benign	Het
Prkg1	T	C	19: 30,546,651 (GRCm39)	D683G	probably damaging	Het
Rasgrp3	T	A	17: 75,801,204 (GRCm39)	Y45N	probably damaging	Het
Rfc4	T	C	16: 22,933,459 (GRCm39)	I233M	probably benign	Het
Sema3a	G	A	5: 13,606,986 (GRCm39)	G274S	probably damaging	Het
Sesn1	T	C	10: 41,772,074 (GRCm39)	L201P	probably damaging	Het
Setx	G	A	2: 29,066,947 (GRCm39)	V2363I	possibly damaging	Het
Sh3glb1	A	G	3: 144,403,228 (GRCm39)	S81P	probably damaging	Het
Sik3	A	G	9: 46,089,784 (GRCm39)	S218G	probably damaging	Het
Slc12a2	C	G	18: 58,048,578 (GRCm39)	F781L	probably damaging	Het
Slc12a6	A	T	2: 112,166,184 (GRCm39)	I188F	probably damaging	Het
Slc34a2	A	G	5: 53,222,139 (GRCm39)		probably null	Het
Slc35f4	A	G	14: 49,559,914 (GRCm39)	C44R	probably damaging	Het
Sytl1	G	A	4: 132,988,309 (GRCm39)	P16S	probably benign	Het
Taok3	C	T	5: 117,394,003 (GRCm39)	T592M	possibly damaging	Het
Tgfb1i1	T	C	7: 127,852,009 (GRCm39)	F303L	probably damaging	Het
Txk	T	C	5: 72,893,760 (GRCm39)	S7G	probably benign	Het
Utp4	T	C	8: 107,645,253 (GRCm39)	V550A	probably benign	Het
Vmn1r229	G	A	17: 21,034,976 (GRCm39)	D74N	probably benign	Het
Zfp638	A	G	6: 83,844,212 (GRCm39)	D25G	possibly damaging	Het
Zfp646	T	C	7: 127,483,079 (GRCm39)	V1752A	probably benign	Het

Other mutations in Or51f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02295:Or51f1	APN	7	102,506,031 (GRCm39)	missense	probably benign
IGL03336:Or51f1	APN	7	102,505,823 (GRCm39)	missense	probably benign	0.38
PIT4382001:Or51f1	UTSW	7	102,505,809 (GRCm39)	missense	probably damaging	1.00
R1337:Or51f1	UTSW	7	102,506,078 (GRCm39)	missense	probably benign	0.03
R1791:Or51f1	UTSW	7	102,505,569 (GRCm39)	nonsense	probably null
R3953:Or51f1	UTSW	7	102,505,824 (GRCm39)	missense	probably damaging	0.97
R3954:Or51f1	UTSW	7	102,505,824 (GRCm39)	missense	probably damaging	0.97
R3955:Or51f1	UTSW	7	102,505,824 (GRCm39)	missense	probably damaging	0.97
R3957:Or51f1	UTSW	7	102,505,824 (GRCm39)	missense	probably damaging	0.97
R4734:Or51f1	UTSW	7	102,506,186 (GRCm39)	missense	probably damaging	0.99
R5182:Or51f1	UTSW	7	102,506,176 (GRCm39)	missense	probably benign	0.07
R5394:Or51f1	UTSW	7	102,505,686 (GRCm39)	missense	probably damaging	1.00
R5559:Or51f1	UTSW	7	102,506,414 (GRCm39)	missense	possibly damaging	0.94
R6023:Or51f1	UTSW	7	102,506,169 (GRCm39)	missense	possibly damaging	0.95
R7312:Or51f1	UTSW	7	102,505,706 (GRCm39)	missense	probably damaging	1.00
R7493:Or51f1	UTSW	7	102,506,278 (GRCm39)	nonsense	probably null
R8409:Or51f1	UTSW	7	102,506,477 (GRCm39)	missense	probably benign	0.01
R8476:Or51f1	UTSW	7	102,506,152 (GRCm39)	missense	probably benign	0.22
R8747:Or51f1	UTSW	7	102,506,139 (GRCm39)	missense	probably benign	0.05
R8946:Or51f1	UTSW	7	102,505,725 (GRCm39)	nonsense	probably null
R9382:Or51f1	UTSW	7	102,506,014 (GRCm39)	missense	probably benign	0.01
R9610:Or51f1	UTSW	7	102,506,147 (GRCm39)	missense	probably damaging	1.00
R9611:Or51f1	UTSW	7	102,506,147 (GRCm39)	missense	probably damaging	1.00
R9625:Or51f1	UTSW	7	102,505,636 (GRCm39)	missense	probably benign	0.01
R9800:Or51f1	UTSW	7	102,506,093 (GRCm39)	missense	probably benign	0.14
Z1177:Or51f1	UTSW	7	102,505,581 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AAGTCAAACCCAGGTCAGTGG -3'
(R):5'- GTGACTCTCCCACATTAAAACATTC -3'

Sequencing Primer
(F):5'- ACCCAGGTCAGTGGCAGAG -3'
(R):5'- ATTCACATAATCTGGTGAAAC -3'

Posted On

2018-04-02