Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Olfr1002'

151973

Institutional Source

Beutler Lab

Gene Symbol

Olfr1002

Ensembl Gene

ENSMUSG00000075214

Gene Name

olfactory receptor 1002

Synonyms

GA_x6K02T2Q125-47127746-47126790, MOR175-2

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85646057-85650704 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85647560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 254 (T254S)

Ref Sequence

ENSEMBL: ENSMUSP00000150405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099920] [ENSMUST00000215548]

AlphaFold

Q8VFK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099920
AA Change: T254S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097504
Gene: ENSMUSG00000075214
AA Change: T254S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8.7e-50	PFAM
Pfam:7tm_1	41	290	2.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215548
AA Change: T254S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
9030619P08Rik	A	C	15: 75,429,997		noncoding transcript	Het
Aldh1l2	T	C	10: 83,496,025	I639V	probably benign	Het
Ambra1	T	C	2: 91,770,896		probably benign	Het
Ap5z1	T	C	5: 142,470,114	Y299H	probably damaging	Het
Atp6v1b1	A	T	6: 83,756,544		probably benign	Het
Atr	G	A	9: 95,950,636	V2574I	probably benign	Het
Atxn1l	T	A	8: 109,732,980	T217S	probably benign	Het
Ccdc85a	A	G	11: 28,396,150	S89P	probably benign	Het
Cd209e	A	T	8: 3,849,124	I196N	probably damaging	Het
Cdhr4	A	G	9: 107,995,296	S247G	probably benign	Het
Cntn6	A	T	6: 104,832,509	I502F	probably damaging	Het
Crisp4	T	C	1: 18,122,794	Y233C	probably damaging	Het
Ctsb	C	A	14: 63,139,104	T261N	probably benign	Het
Ctsk	T	C	3: 95,500,874	F14L	probably benign	Het
Dchs1	T	C	7: 105,758,178	I2110V	probably damaging	Het
Dennd5b	A	G	6: 149,068,490	M155T	probably benign	Het
Echdc3	T	C	2: 6,212,800	D54G	probably benign	Het
Egln3	G	A	12: 54,181,693	T209I	probably damaging	Het
Fbn1	A	C	2: 125,372,527		probably benign	Het
Fkbp15	A	T	4: 62,304,609	S1018T	possibly damaging	Het
Flnb	T	C	14: 7,896,503	I898T	probably benign	Het
Flt1	T	A	5: 147,599,646	Y795F	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fryl	A	G	5: 73,064,925		probably benign	Het
Fryl	T	C	5: 73,110,271	E417G	probably damaging	Het
Gcnt3	T	C	9: 70,034,333	I318V	probably benign	Het
Gm11437	T	A	11: 84,164,628	H54L	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 151,907,048		probably benign	Het
Jarid2	G	A	13: 44,884,892		probably benign	Het
Kif5b	A	T	18: 6,214,044	V653E	probably benign	Het
Kmt2b	A	G	7: 30,574,940	V2113A	probably damaging	Het
Knl1	C	T	2: 119,072,573	T1585I	probably benign	Het
Mlxipl	T	A	5: 135,132,718	M497K	probably benign	Het
Mre11a	T	A	9: 14,799,639	W210R	probably damaging	Het
Mrps22	A	G	9: 98,594,695	V207A	probably benign	Het
Myo15	A	G	11: 60,499,430	I2111V	possibly damaging	Het
Myo1a	C	T	10: 127,719,279	P838L	probably benign	Het
Nbea	T	A	3: 56,058,040	H484L	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nlrp2	T	A	7: 5,328,431	D322V	probably damaging	Het
Nrcam	T	C	12: 44,590,164	C1057R	probably damaging	Het
Ntsr1	T	C	2: 180,500,601	S62P	probably damaging	Het
Nudt18	A	G	14: 70,579,427	H157R	probably benign	Het
Olfr982	C	A	9: 40,074,896	N200K	probably damaging	Het
Sidt2	T	C	9: 45,945,704	T435A	probably damaging	Het
Snx27	T	C	3: 94,520,233	T312A	probably benign	Het
Srebf2	T	C	15: 82,177,519	S429P	probably damaging	Het
Suclg2	A	G	6: 95,497,582		probably benign	Het
Tchh	A	T	3: 93,444,972	E573V	unknown	Het
Tdrd1	A	G	19: 56,861,760	T985A	probably benign	Het
Ttc7b	A	G	12: 100,403,439	I357T	possibly damaging	Het
Ttn	T	C	2: 76,795,664	E13271G	probably damaging	Het
Usp13	A	G	3: 32,915,708	E661G	probably damaging	Het
Vasp	T	G	7: 19,259,033		probably benign	Het
Vmn2r109	A	T	17: 20,555,241	Y75N	possibly damaging	Het
Vmn2r15	T	A	5: 109,292,904	N363Y	probably damaging	Het
Vmn2r60	T	A	7: 42,137,052	N426K	probably benign	Het
Wisp2	T	A	2: 163,829,077	M168K	unknown	Het
Znhit2	C	A	19: 6,062,258	N344K	probably damaging	Het

Other mutations in Olfr1002

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02591:Olfr1002	APN	2	85648143	missense	probably damaging	0.98
IGL02873:Olfr1002	APN	2	85647752	missense	possibly damaging	0.50
PIT4362001:Olfr1002	UTSW	2	85647724	missense	probably damaging	1.00
R1261:Olfr1002	UTSW	2	85647799	missense	probably damaging	1.00
R1666:Olfr1002	UTSW	2	85647813	nonsense	probably null
R1902:Olfr1002	UTSW	2	85647857	missense	possibly damaging	0.81
R1965:Olfr1002	UTSW	2	85647746	missense	possibly damaging	0.94
R2096:Olfr1002	UTSW	2	85648090	missense	probably benign	0.20
R4239:Olfr1002	UTSW	2	85648303	missense	probably damaging	0.98
R4730:Olfr1002	UTSW	2	85647992	missense	probably benign	0.39
R4948:Olfr1002	UTSW	2	85647572	missense	probably benign	0.30
R5627:Olfr1002	UTSW	2	85647647	missense	probably damaging	1.00
R5844:Olfr1002	UTSW	2	85647895	missense	probably benign	0.36
R6809:Olfr1002	UTSW	2	85647973	missense	probably damaging	1.00
R7399:Olfr1002	UTSW	2	85647424	missense	possibly damaging	0.89
R7476:Olfr1002	UTSW	2	85648168	missense	not run
R7805:Olfr1002	UTSW	2	85647450	nonsense	probably null
R7960:Olfr1002	UTSW	2	85648073	missense	possibly damaging	0.82
R8015:Olfr1002	UTSW	2	85647792	missense	probably damaging	0.99
R8355:Olfr1002	UTSW	2	85648141	missense	probably damaging	1.00
R8455:Olfr1002	UTSW	2	85648141	missense	probably damaging	1.00
R8479:Olfr1002	UTSW	2	85648103	missense	probably damaging	1.00
R8683:Olfr1002	UTSW	2	85648066	missense	probably benign	0.35
R8699:Olfr1002	UTSW	2	85647986	missense	possibly damaging	0.87
R8762:Olfr1002	UTSW	2	85647690	missense	probably damaging	1.00
R8897:Olfr1002	UTSW	2	85647843	missense	possibly damaging	0.92
R9280:Olfr1002	UTSW	2	85648160	nonsense	probably null
R9674:Olfr1002	UTSW	2	85648249	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGGAACACACCCAACATTAAGCATTAT -3'
(R):5'- ACATTTGCTTTTCATCATGGCTGGGAT -3'

Sequencing Primer
(F):5'- GGAAATGGCCTTCTGTAAACC -3'
(R):5'- ATCAATTCTGCTGATGGGAGGC -3'

Posted On

2014-01-29