Mutagenetix > Incidental Mutations

Incidental Mutation 'V7581:Olfr480'

152556

Institutional Source

Beutler Lab

Gene Symbol

Olfr480

Ensembl Gene

ENSMUSG00000063120

Gene Name

olfactory receptor 480

Synonyms

GA_x6K02T2PBJ9-10395807-10394869, MOR204-32

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

V7581 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108064878-108067346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108066678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 40 (T40K)

Ref Sequence

ENSEMBL: ENSMUSP00000071583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071658] [ENSMUST00000217653]

AlphaFold

Q8VEZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000071658
AA Change: T40K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071583
Gene: ENSMUSG00000063120
AA Change: T40K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	61	338	1.7e-50	PFAM
Pfam:7tm_1	71	320	1.4e-20	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: T10K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-49	PFAM
Pfam:7tm_1	41	290	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217653
AA Change: T10K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.5%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Abcb10	GGCCATCG	GG	8: 123,969,761		probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Clasp1	G	A	1: 118,581,348	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Glrx3	A	G	7: 137,459,153	H172R	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Hira	G	A	16: 18,894,821	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,528,476	W274C	probably damaging	Het
Rbbp8nl	T	A	2: 180,278,208	T558S	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Slc5a6	C	T	5: 31,042,613		probably null	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tmc3	T	C	7: 83,622,505	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vmn2r68	C	T	7: 85,221,880	V732I	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Olfr480

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Olfr480	APN	7	108066288	missense	probably benign	0.32
IGL02060:Olfr480	APN	7	108066671	missense	probably benign	0.03
IGL02392:Olfr480	APN	7	108066503	missense	probably benign	0.10
IGL02493:Olfr480	APN	7	108065805	missense	possibly damaging	0.79
IGL02634:Olfr480	APN	7	108066771	missense	probably benign	0.00
F5770:Olfr480	UTSW	7	108066678	missense	probably benign	0.11
R0446:Olfr480	UTSW	7	108066725	nonsense	probably null
R1070:Olfr480	UTSW	7	108066651	missense	probably benign	0.00
R1510:Olfr480	UTSW	7	108066528	missense	probably damaging	1.00
R1862:Olfr480	UTSW	7	108066725	nonsense	probably null
R1863:Olfr480	UTSW	7	108066725	nonsense	probably null
R1885:Olfr480	UTSW	7	108066778	missense	probably benign	0.00
R1886:Olfr480	UTSW	7	108066778	missense	probably benign	0.00
R1887:Olfr480	UTSW	7	108066778	missense	probably benign	0.00
R3609:Olfr480	UTSW	7	108066369	missense	probably damaging	1.00
R3921:Olfr480	UTSW	7	108065901	missense	possibly damaging	0.94
R4259:Olfr480	UTSW	7	108065893	nonsense	probably null
R5276:Olfr480	UTSW	7	108066216	nonsense	probably null
R6224:Olfr480	UTSW	7	108066742	missense	probably benign	0.00
R8059:Olfr480	UTSW	7	108066016	missense	probably benign	0.01
R8229:Olfr480	UTSW	7	108066587	missense	probably benign	0.01
R8271:Olfr480	UTSW	7	108065773	missense	probably damaging	0.99
R8926:Olfr480	UTSW	7	108066306	missense	probably benign	0.06
R9176:Olfr480	UTSW	7	108066039	missense	probably benign	0.05
X0021:Olfr480	UTSW	7	108066588	missense	probably benign	0.01
X0066:Olfr480	UTSW	7	108066435	missense	probably benign	0.00
Z1088:Olfr480	UTSW	7	108066327	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATGTTCCCTTTCTGAGAAAGCCCC -3'
(R):5'- ACTCCACAAGTTGTCAGTCATAAAGCC -3'

Sequencing Primer
(F):5'- CCTCAGCATGATGGGTGTAAC -3'
(R):5'- GTTGTCAGTCATAAAGCCAAAGAC -3'

Posted On

2014-01-29