Mutagenetix > Incidental Mutation

Incidental Mutation 'R3953:Or51f1'

308048

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

040830-MU

Accession Numbers

Essential gene?

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

Stock #

R3953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102505528-102507972 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102505824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 222 (C222R)

Ref Sequence

ENSEMBL: ENSMUSP00000148998 (fasta)

Gene Model

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

AlphaFold

A0A1B0GST0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071393
AA Change: C219R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071344
Gene: ENSMUSG00000060888
AA Change: C219R

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 damaging
Transcript: ENSMUST00000209952
AA Change: C222R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210522

Predicted Effect

probably damaging
Transcript: ENSMUST00000213481
AA Change: C222R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.4469

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (61/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Adgrf1	A	G	17: 43,621,098 (GRCm39)	N445S	probably benign	Het
Aldh7a1	C	A	18: 56,681,577 (GRCm39)	V198L	probably damaging	Het
Ank2	A	T	3: 126,781,809 (GRCm39)	D6E	probably damaging	Het
Arhgap31	A	G	16: 38,423,826 (GRCm39)	F747L	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cadps	T	C	14: 12,505,937 (GRCm38)	D711G	probably damaging	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp4f18	C	T	8: 72,754,801 (GRCm39)	R148H	probably damaging	Het
Dennd4a	C	A	9: 64,759,857 (GRCm39)	P321T	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	G	A	11: 69,344,929 (GRCm39)	T2715M	probably damaging	Het
Evc2	T	C	5: 37,537,931 (GRCm39)		probably null	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gucy1a2	T	C	9: 3,582,704 (GRCm39)		probably benign	Het
Gys1	C	T	7: 45,089,470 (GRCm39)	P274S	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Herc1	C	T	9: 66,341,075 (GRCm39)	Q1731*	probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lnx1	T	C	5: 74,766,750 (GRCm39)	T455A	probably benign	Het
Mast2	A	T	4: 116,170,926 (GRCm39)	H612Q	probably damaging	Het
Mcm9	G	A	10: 53,439,440 (GRCm39)	H578Y	probably damaging	Het
Mefv	A	G	16: 3,533,264 (GRCm39)	S336P	possibly damaging	Het
Micu1	A	T	10: 59,586,326 (GRCm39)	H134L	probably benign	Het
Mrgprb2	C	T	7: 48,202,116 (GRCm39)	G203D	possibly damaging	Het
Ncapd2	T	C	6: 125,147,697 (GRCm39)	I1179V	probably damaging	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5b119	G	A	19: 13,456,806 (GRCm39)	S252L	probably benign	Het
Pcnx3	A	G	19: 5,733,808 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,103,145 (GRCm39)		probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptprb	A	G	10: 116,177,399 (GRCm39)	N1320S	probably benign	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Robo1	A	G	16: 72,821,226 (GRCm39)	D1331G	probably damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Slc44a5	A	G	3: 153,877,209 (GRCm39)	D13G	probably benign	Het
Slco1a1	A	T	6: 141,868,833 (GRCm39)	M377K	probably damaging	Het
St18	T	A	1: 6,873,117 (GRCm39)	L284Q	probably damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tln2	G	A	9: 67,277,911 (GRCm39)	P368S	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Vps13d	A	G	4: 144,875,450 (GRCm39)	S1686P	probably damaging	Het
Wdr41	A	G	13: 95,133,571 (GRCm39)	E75G	probably damaging	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
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
R6310:Or51f1	UTSW	7	102,506,412 (GRCm39)	missense	probably benign	0.01
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'- ATGGACTACCTTGGGTGCTG -3'
(R):5'- AATCATTCAGATGGGTTTCCTAGTG -3'

Sequencing Primer
(F):5'- TTGGGTGCTGACCGACCATATC -3'
(R):5'- TCCTAGTGATAATGCGTGCTC -3'

Posted On

2015-04-17