Mutagenetix > Incidental Mutation

Incidental Mutation 'R3955:Or51f1'

310648

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

040832-MU

Accession Numbers

Essential gene?

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

Stock #

R3955 (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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (56/56)

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
1110002E22Rik	A	G	3: 137,773,834 (GRCm39)	T1008A	probably benign	Het
Abcc5	G	C	16: 20,224,293 (GRCm39)	H97D	probably damaging	Het
Acbd7	T	C	2: 3,337,250 (GRCm39)	S2P	probably benign	Het
Acta2	G	T	19: 34,229,126 (GRCm39)		probably benign	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Ajm1	G	T	2: 25,467,583 (GRCm39)	S776*	probably null	Het
Ccnq	C	A	11: 78,641,849 (GRCm39)	E214*	probably null	Het
Cd69	A	T	6: 129,245,343 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dscc1	T	C	15: 54,946,949 (GRCm39)	T259A	probably benign	Het
Dsg4	G	A	18: 20,582,432 (GRCm39)		probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Insyn1	A	T	9: 58,406,906 (GRCm39)	D272V	probably damaging	Het
Krt20	G	A	11: 99,323,037 (GRCm39)	Q262*	probably null	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lmod2	G	T	6: 24,603,870 (GRCm39)	V282L	probably benign	Het
Lrrc49	A	G	9: 60,578,642 (GRCm39)	I228T	probably damaging	Het
Matn1	G	A	4: 130,678,726 (GRCm39)		probably null	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nmt2	A	G	2: 3,313,535 (GRCm39)	D132G	probably benign	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Obscn	G	A	11: 58,927,594 (GRCm39)	S6118F	probably damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or1j21	T	A	2: 36,683,565 (GRCm39)	L106M	probably benign	Het
Or4c12	T	A	2: 89,774,172 (GRCm39)	M96L	possibly damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Plxnb3	T	C	X: 72,814,826 (GRCm39)	V1789A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Qrfprl	A	T	6: 65,430,092 (GRCm39)	I263L	possibly damaging	Het
Rab3gap1	A	G	1: 127,862,254 (GRCm39)	Q675R	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Sergef	T	A	7: 46,268,176 (GRCm39)	E210V	possibly damaging	Het
Sik3	C	A	9: 46,109,891 (GRCm39)	N541K	probably damaging	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Tbc1d14	G	A	5: 36,700,559 (GRCm39)	R270*	probably null	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tdp2	C	T	13: 25,020,082 (GRCm39)	T123I	probably benign	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	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
Unc13b	A	G	4: 43,256,834 (GRCm39)	Y3962C	probably damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Zfp677	A	G	17: 21,618,079 (GRCm39)	K379E	possibly damaging	Het
Zfp865	T	A	7: 5,035,013 (GRCm39)	D999E	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
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
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'- CATTGGCCATCATTGTATGGAC -3'
(R):5'- TTCCTAGTGATAATGCGTGCTC -3'

Sequencing Primer
(F):5'- CCATCATTGTATGGACTACCTTGGG -3'
(R):5'- ATGCGTGCTCTGTTATTAATAGTCC -3'

Posted On

2015-04-29