Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Olfr109'

64507

Institutional Source

Beutler Lab

Gene Symbol

Olfr109

Ensembl Gene

ENSMUSG00000029184

Gene Name

olfactory receptor 109

Synonyms

GA_x6K02T2PSCP-1914078-1915022, MOR250-1

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37458916-37471590 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37466803 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 199 (V199D)

Ref Sequence

ENSEMBL: ENSMUSP00000150044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031086] [ENSMUST00000214668] [ENSMUST00000214938] [ENSMUST00000217602]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031086
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: V199D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	3.4e-54	PFAM
Pfam:7tm_1	39	291	6.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214668
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214938
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217602
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372		probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Cdc16	T	A	8: 13,759,130		probably null	Het
Cep135	C	T	5: 76,606,734	R353*	probably null	Het
Cma1	A	T	14: 55,942,164	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909		probably benign	Het
Got1l1	C	T	8: 27,200,248	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527		probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573	S3P	probably damaging	Het
Olfr921	G	A	9: 38,775,596	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Relt	C	A	7: 100,850,221	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468		probably benign	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236		probably null	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Unc5b	A	T	10: 60,774,592	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vmn2r61	T	G	7: 42,275,474	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Olfr109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Olfr109	APN	17	37466758	missense	probably damaging	1.00
IGL02039:Olfr109	APN	17	37466449	missense	possibly damaging	0.49
IGL02391:Olfr109	APN	17	37466586	missense	probably damaging	1.00
IGL02730:Olfr109	APN	17	37466859	missense	probably damaging	1.00
IGL02751:Olfr109	APN	17	37466415	missense	probably damaging	0.98
IGL02891:Olfr109	APN	17	37466944	missense	probably damaging	1.00
IGL03023:Olfr109	APN	17	37466994	missense	probably benign
IGL03343:Olfr109	APN	17	37466409	missense	probably damaging	1.00
R0579:Olfr109	UTSW	17	37466347	missense	probably benign	0.01
R1751:Olfr109	UTSW	17	37466901	missense	probably benign	0.00
R1848:Olfr109	UTSW	17	37467047	missense	probably damaging	0.99
R2392:Olfr109	UTSW	17	37466419	missense	probably damaging	1.00
R4249:Olfr109	UTSW	17	37466824	missense	probably damaging	0.98
R4464:Olfr109	UTSW	17	37466851	missense	probably damaging	1.00
R4857:Olfr109	UTSW	17	37466823	missense	possibly damaging	0.80
R4947:Olfr109	UTSW	17	37466743	missense	probably damaging	1.00
R5107:Olfr109	UTSW	17	37466253	missense	probably damaging	0.97
R5526:Olfr109	UTSW	17	37467112	missense	unknown
R6147:Olfr109	UTSW	17	37466539	missense	probably benign	0.00
R6416:Olfr109	UTSW	17	37467080	nonsense	probably null
R7450:Olfr109	UTSW	17	37466616	missense	probably benign	0.00
R7487:Olfr109	UTSW	17	37466566	missense	probably damaging	0.96
R7822:Olfr109	UTSW	17	37467103	missense	probably benign	0.00
R8041:Olfr109	UTSW	17	37466649	missense	probably benign
R8051:Olfr109	UTSW	17	37466322	missense	probably damaging	1.00
X0063:Olfr109	UTSW	17	37466524	missense	probably damaging	1.00
X0065:Olfr109	UTSW	17	37466318	missense	probably damaging	1.00
Z1176:Olfr109	UTSW	17	37466661	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACGGCCTGGTTCACAAGCTTCTTC -3'
(R):5'- ACTGGGGTGACTGCACTGTAGATG -3'

Sequencing Primer
(F):5'- GGTTCACAAGCTTCTTCTATGC -3'
(R):5'- ACTGCACTGTAGATGATGGC -3'

Posted On

2013-08-06