Mutagenetix > Incidental Mutations

Incidental Mutation 'R2090:Olfr304'

231706

Institutional Source

Beutler Lab

Gene Symbol

Olfr304

Ensembl Gene

ENSMUSG00000062426

Gene Name

olfactory receptor 304

Synonyms

GA_x6K02T2NHDJ-9721756-9722757, MOR219-3P

MMRRC Submission

040095-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86385657-86386658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86386081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 193 (I193N)

Ref Sequence

ENSEMBL: ENSMUSP00000076449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077210]

AlphaFold

Q7TS03

Predicted Effect

probably benign
Transcript: ENSMUST00000077210
AA Change: I193N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076449
Gene: ENSMUSG00000062426
AA Change: I193N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	8.9e-38	PFAM
Pfam:7tm_1	39	288	1.1e-21	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,676	S283P	probably benign	Het
Adam32	A	G	8: 24,901,440		probably null	Het
Adcy7	A	T	8: 88,315,857	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,039,930	T410S	possibly damaging	Het
Alg11	G	T	8: 22,065,630	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,298,046	V310A	possibly damaging	Het
Atg16l2	C	T	7: 101,293,368		probably null	Het
AY761184	A	T	8: 21,702,789	W64R	possibly damaging	Het
B3gnt2	A	G	11: 22,836,291	V299A	probably benign	Het
Birc6	A	G	17: 74,662,796	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,364,014	K196E	probably benign	Het
Cdr2l	A	G	11: 115,391,001	K111E	probably damaging	Het
Crtam	T	C	9: 40,984,316	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,090,268	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,097,771	Y571*	probably null	Het
Dpy19l4	T	C	4: 11,304,344	Y99C	probably benign	Het
Edem3	C	T	1: 151,804,826		probably benign	Het
Enpp6	A	T	8: 47,065,370		probably null	Het
Fam26f	A	G	10: 34,126,362	S242P	probably damaging	Het
Foxf2	T	A	13: 31,626,841	D254E	probably benign	Het
Gjb5	T	C	4: 127,356,001	N117D	probably benign	Het
Glmn	G	A	5: 107,561,928	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,826,826	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,866,782	M144L	probably benign	Het
Ibtk	A	G	9: 85,720,993	I653T	probably benign	Het
Il24	T	G	1: 130,884,837	D99A	possibly damaging	Het
Intu	A	G	3: 40,683,536	Q484R	probably benign	Het
Lsp1	T	C	7: 142,491,807		probably benign	Het
Mad1l1	A	G	5: 140,009,256	S672P	probably benign	Het
Man2a2	A	T	7: 80,364,110		probably benign	Het
Morc3	C	A	16: 93,866,453	H515N	probably benign	Het
Nav1	T	C	1: 135,607,165		probably benign	Het
Ndor1	A	G	2: 25,249,218	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,816,455	F494L	probably benign	Het
Nr1d1	G	A	11: 98,770,610	P277S	probably damaging	Het
Nrg2	T	C	18: 36,018,443	D682G	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Oasl1	G	A	5: 114,935,934	D301N	probably damaging	Het
Olfr1118	A	T	2: 87,309,418	I230F	probably benign	Het
Olfr196	A	G	16: 59,168,140	M1T	probably null	Het
Palmd	A	G	3: 116,927,434	S123P	probably damaging	Het
Patj	A	G	4: 98,437,323		probably benign	Het
Pcsk4	T	C	10: 80,325,821	D162G	probably benign	Het
Plppr5	A	G	3: 117,575,871	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,461,882	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,740,469	T363A	probably benign	Het
Poll	A	T	19: 45,558,838	I65N	probably benign	Het
Prox1	T	A	1: 190,160,812	S479C	probably damaging	Het
Prss50	A	T	9: 110,862,293	S222C	probably damaging	Het
Rasa3	A	C	8: 13,582,381		probably benign	Het
Sec14l3	T	C	11: 4,075,481	V335A	probably benign	Het
Setbp1	C	T	18: 78,856,720	S1244N	probably benign	Het
Sgcg	A	T	14: 61,245,764	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,516,492	I176F	probably benign	Het
Smc6	A	G	12: 11,289,986	T432A	probably benign	Het
Snx25	G	A	8: 46,056,113	P478L	probably damaging	Het
Taf2	A	T	15: 55,016,486	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,259,657	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,484,777	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,936,017	Y410H	probably damaging	Het
Vav3	T	C	3: 109,647,739		probably null	Het
Vmn1r224	T	C	17: 20,419,262	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,754,008	D240G	probably benign	Het
Zfp963	A	T	8: 69,743,346	C152*	probably null	Het

Other mutations in Olfr304

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Olfr304	APN	7	86386000	missense	possibly damaging	0.95
IGL02152:Olfr304	APN	7	86386043	missense	probably benign	0.00
IGL02540:Olfr304	APN	7	86386178	missense	possibly damaging	0.86
IGL03108:Olfr304	APN	7	86385721	missense	possibly damaging	0.95
IGL03374:Olfr304	APN	7	86386366	missense	probably damaging	1.00
R0040:Olfr304	UTSW	7	86386507	missense	probably benign	0.01
R0130:Olfr304	UTSW	7	86386306	missense	probably damaging	1.00
R0194:Olfr304	UTSW	7	86386374	nonsense	probably null
R0267:Olfr304	UTSW	7	86386267	missense	possibly damaging	0.64
R1026:Olfr304	UTSW	7	86386259	missense	probably damaging	0.98
R1865:Olfr304	UTSW	7	86386561	missense	probably damaging	1.00
R3607:Olfr304	UTSW	7	86385695	missense	probably benign
R3861:Olfr304	UTSW	7	86386123	missense	possibly damaging	0.60
R3909:Olfr304	UTSW	7	86385974	missense	probably benign	0.05
R4113:Olfr304	UTSW	7	86386525	missense	possibly damaging	0.83
R5268:Olfr304	UTSW	7	86385659	makesense	probably null
R5649:Olfr304	UTSW	7	86386313	missense	probably damaging	1.00
R6343:Olfr304	UTSW	7	86385851	nonsense	probably null
R7716:Olfr304	UTSW	7	86386054	missense	probably benign	0.22
R8118:Olfr304	UTSW	7	86385768	nonsense	probably null
R9047:Olfr304	UTSW	7	86386040	missense	probably benign	0.05
X0054:Olfr304	UTSW	7	86385730	missense	probably benign	0.00
X0063:Olfr304	UTSW	7	86386492	missense	probably damaging	1.00
Z1186:Olfr304	UTSW	7	86386279	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAGGGAGGCTTCAGATAG -3'
(R):5'- GCTCTCCTCTGTGTTATGAGGC -3'

Sequencing Primer
(F):5'- GCTTCAGATAGACAAAGCAAGC -3'
(R):5'- CAATCATGAGTAGTGGTAACTGTG -3'

Posted On

2014-09-18