Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:Olfr806'

328572

Institutional Source

Beutler Lab

Gene Symbol

Olfr806

Ensembl Gene

ENSMUSG00000071065

Gene Name

olfactory receptor 806

Synonyms

MOR110-5, MOR110-12, GA_x6K02T2PULF-11417610-11416669

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129735571-129741921 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129738261 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 219 (I219F)

Ref Sequence

ENSEMBL: ENSMUSP00000150380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095245] [ENSMUST00000213239] [ENSMUST00000215142]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095245
AA Change: I219F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092873
Gene: ENSMUSG00000071065
AA Change: I219F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	2.6e-52	PFAM
Pfam:7tm_1	39	288	4.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204624
AA Change: I219F

SMART Domains

Protein: ENSMUSP00000144955
Gene: ENSMUSG00000071065
AA Change: I219F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	2.6e-52	PFAM
Pfam:7tm_1	39	288	4.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213239
AA Change: I219F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215142
AA Change: I219F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	probably damaging	Het

Other mutations in Olfr806

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01875:Olfr806	APN	10	129738922	utr 5 prime	probably benign
IGL02090:Olfr806	APN	10	129738312	missense	probably benign
IGL02328:Olfr806	APN	10	129738026	missense	probably benign	0.35
IGL02572:Olfr806	APN	10	129738866	missense	possibly damaging	0.81
R1773:Olfr806	UTSW	10	129738443	missense	probably damaging	0.97
R1797:Olfr806	UTSW	10	129738709	missense	probably benign	0.03
R5704:Olfr806	UTSW	10	129738816	missense	probably benign	0.00
R6140:Olfr806	UTSW	10	129738654	missense	possibly damaging	0.95
R6655:Olfr806	UTSW	10	129738087	missense	possibly damaging	0.96
R6858:Olfr806	UTSW	10	129738464	missense	probably damaging	1.00
R7647:Olfr806	UTSW	10	129738201	missense	probably damaging	0.99
R7879:Olfr806	UTSW	10	129738690	missense	probably benign	0.15
R7962:Olfr806	UTSW	10	129738690	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TCACCTGCTGGTTCCTTAGG -3'
(R):5'- CTCAAACTGGAATTCTGTGCTTCC -3'

Sequencing Primer
(F):5'- CCACAGAGGTGTTGAGCAC -3'
(R):5'- CTGTGCTTCCAAAACTGTAGATCAC -3'

Posted On

2015-07-21