Mutagenetix > Incidental Mutation

Incidental Mutation 'R0722:Or5p6'

63562

Institutional Source

Beutler Lab

Gene Symbol

Or5p6

Ensembl Gene

ENSMUSG00000094426

Gene Name

olfactory receptor family 5 subfamily P member 6

Synonyms

GA_x6K02T2PBJ9-10361879-10360935, Olfr478, MOR204-13

MMRRC Submission

038904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0722 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

107630502-107633174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107631541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 3 (F3S)

Ref Sequence

ENSEMBL: ENSMUSP00000147713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049719] [ENSMUST00000210173]

AlphaFold

Q8VG04

Predicted Effect

probably benign
Transcript: ENSMUST00000049719
AA Change: F3S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000058931
Gene: ENSMUSG00000094426
AA Change: F3S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.1e-54	PFAM
Pfam:7tm_1	44	293	1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210173
AA Change: F3S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.7%

Validation Efficiency

97% (63/65)

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
Adap2	T	C	11: 80,047,810 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	A	G	13: 4,247,931 (GRCm39)		probably null	Het
Atp10a	A	G	7: 58,465,931 (GRCm39)	I1053V	possibly damaging	Het
Bmper	G	T	9: 23,285,224 (GRCm39)	V258L	probably benign	Het
Brd4	T	C	17: 32,431,956 (GRCm39)	H636R	possibly damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccbe1	C	T	18: 66,217,877 (GRCm39)	C112Y	probably damaging	Het
Ccdc28b	T	A	4: 129,514,945 (GRCm39)		probably null	Het
Cd320	T	C	17: 34,065,004 (GRCm39)	S46P	possibly damaging	Het
Cfap251	T	A	5: 123,394,248 (GRCm39)	V379E	probably damaging	Het
Cfap44	G	A	16: 44,225,039 (GRCm39)	E95K	possibly damaging	Het
Clpp	T	C	17: 57,299,901 (GRCm39)	V144A	probably damaging	Het
Crtam	A	T	9: 40,903,912 (GRCm39)	C96S	probably damaging	Het
Dcst1	C	T	3: 89,261,112 (GRCm39)	R480H	probably benign	Het
Dock2	A	T	11: 34,414,970 (GRCm39)		probably benign	Het
Ermard	A	G	17: 15,242,390 (GRCm39)	T189A	probably benign	Het
Gm10840	A	G	11: 106,051,902 (GRCm39)		probably benign	Het
Gm4845	T	A	1: 141,184,598 (GRCm39)		noncoding transcript	Het
Heatr1	A	G	13: 12,420,918 (GRCm39)	E403G	probably benign	Het
Herc4	A	G	10: 63,121,844 (GRCm39)	I399V	probably null	Het
Htr1f	A	G	16: 64,746,254 (GRCm39)	I346T	probably damaging	Het
Igf2r	T	C	17: 12,934,382 (GRCm39)		probably null	Het
Jmy	G	A	13: 93,589,325 (GRCm39)	T644I	probably benign	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Krt13	T	G	11: 100,009,979 (GRCm39)	K297T	probably damaging	Het
Lrba	T	C	3: 86,513,296 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,627,978 (GRCm39)	V108A	possibly damaging	Het
Lrrc8c	T	A	5: 105,727,414 (GRCm39)	V26E	probably damaging	Het
Or10g6	A	G	9: 39,934,295 (GRCm39)	D202G	probably damaging	Het
Pcna	A	G	2: 132,093,155 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,022 (GRCm39)	R348*	probably null	Het
Pikfyve	T	G	1: 65,292,682 (GRCm39)	S1378A	probably damaging	Het
Pkp2	T	C	16: 16,064,892 (GRCm39)	V472A	probably benign	Het
Pld5	A	G	1: 175,803,081 (GRCm39)	F395L	probably benign	Het
Plekhb1	A	T	7: 100,294,810 (GRCm39)	Y169N	probably damaging	Het
Polr2c	T	A	8: 95,589,265 (GRCm39)	Y186N	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prr5l	A	G	2: 101,547,819 (GRCm39)		probably benign	Het
Ptbp2	C	T	3: 119,514,570 (GRCm39)	R419Q	possibly damaging	Het
Ralgapa2	A	G	2: 146,230,451 (GRCm39)	V1038A	probably damaging	Het
Rassf2	A	G	2: 131,844,830 (GRCm39)	V204A	probably damaging	Het
Slc22a22	T	C	15: 57,119,949 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Smc5	C	A	19: 23,186,291 (GRCm39)	L1055F	probably damaging	Het
Spidr	A	G	16: 15,730,645 (GRCm39)	F620S	probably damaging	Het
Susd1	A	G	4: 59,379,749 (GRCm39)	S293P	possibly damaging	Het
Tepsin	A	G	11: 119,986,163 (GRCm39)		probably benign	Het
Vmn2r68	A	T	7: 84,870,794 (GRCm39)	L830I	possibly damaging	Het
Vtn	A	G	11: 78,391,680 (GRCm39)		probably benign	Het
Zfp267	C	T	3: 36,219,218 (GRCm39)	H414Y	probably benign	Het
Zfp280d	T	G	9: 72,219,383 (GRCm39)	S162A	possibly damaging	Het
Zfp608	T	G	18: 55,033,306 (GRCm39)	K409T	probably damaging	Het
Zfp738	A	T	13: 67,819,643 (GRCm39)	M116K	probably benign	Het

Other mutations in Or5p6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Or5p6	APN	7	107,630,887 (GRCm39)	missense	probably damaging	1.00
IGL01457:Or5p6	APN	7	107,631,328 (GRCm39)	missense	possibly damaging	0.90
IGL03156:Or5p6	APN	7	107,631,558 (GRCm39)	utr 5 prime	probably benign
IGL03271:Or5p6	APN	7	107,630,714 (GRCm39)	missense	probably damaging	0.96
IGL03399:Or5p6	APN	7	107,630,789 (GRCm39)	missense	probably benign	0.02
R0660:Or5p6	UTSW	7	107,630,822 (GRCm39)	missense	probably damaging	1.00
R1468:Or5p6	UTSW	7	107,631,595 (GRCm39)	splice site	probably null
R1468:Or5p6	UTSW	7	107,631,595 (GRCm39)	splice site	probably null
R2172:Or5p6	UTSW	7	107,630,674 (GRCm39)	missense	probably damaging	1.00
R4274:Or5p6	UTSW	7	107,630,751 (GRCm39)	missense	probably benign	0.01
R5164:Or5p6	UTSW	7	107,631,487 (GRCm39)	missense	possibly damaging	0.47
R5501:Or5p6	UTSW	7	107,631,360 (GRCm39)	nonsense	probably null
R7586:Or5p6	UTSW	7	107,631,128 (GRCm39)	missense	probably benign	0.00
R7846:Or5p6	UTSW	7	107,631,199 (GRCm39)	missense	probably benign	0.21
R8005:Or5p6	UTSW	7	107,631,470 (GRCm39)	missense	possibly damaging	0.54
R8444:Or5p6	UTSW	7	107,631,070 (GRCm39)	missense	probably benign
R9026:Or5p6	UTSW	7	107,631,286 (GRCm39)	missense	probably damaging	0.96
R9120:Or5p6	UTSW	7	107,630,887 (GRCm39)	missense	probably damaging	1.00
R9211:Or5p6	UTSW	7	107,630,798 (GRCm39)	missense	probably damaging	1.00
R9323:Or5p6	UTSW	7	107,631,230 (GRCm39)	missense	probably benign	0.00
R9487:Or5p6	UTSW	7	107,631,163 (GRCm39)	missense	possibly damaging	0.95
R9708:Or5p6	UTSW	7	107,631,259 (GRCm39)	missense	probably benign	0.09
Z1176:Or5p6	UTSW	7	107,630,653 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATTGCAGCCAGAATGAAGC -3'
(R):5'- GTGTCCCATCCTGGACATACACAAC -3'

Sequencing Primer
(F):5'- TCTTTCCACCAGGAAGTTGACAAG -3'
(R):5'- CTGGACATACACAACTTTGGG -3'

Posted On

2013-07-30