Mutagenetix > Incidental Mutations

Incidental Mutation 'R1583:Olfr729'

177279

Institutional Source

Beutler Lab

Gene Symbol

Olfr729

Ensembl Gene

ENSMUSG00000049011

Gene Name

olfactory receptor 729

Synonyms

MOR246-6, GA_x6K02T2PMLR-5839874-5838903

MMRRC Submission

039620-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50144731-50152910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50148774 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 33 (M33I)

Ref Sequence

ENSEMBL: ENSMUSP00000149189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061020] [ENSMUST00000213163] [ENSMUST00000215327] [ENSMUST00000215451]

Predicted Effect

probably benign
Transcript: ENSMUST00000061020
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: M33I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	8.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	286	1.4e-5	PFAM
Pfam:7tm_1	41	287	2.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213163
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000215327
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000215451
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831		probably null	Het
Ankar	A	G	1: 72,679,555		probably benign	Het
Aplf	A	T	6: 87,646,033	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389		probably benign	Het
Catsperb	T	C	12: 101,463,114	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810		probably null	Het
Gm10392	T	A	11: 77,517,481	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765		probably benign	Het
Klhl21	T	C	4: 152,009,624	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478		probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621		probably null	Het
Mga	T	A	2: 119,963,960	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185	T669S	probably benign	Het
Nin	C	T	12: 70,031,738	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480	F177L	probably benign	Het
Osbp	C	A	19: 11,977,829	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627		probably benign	Het
Ptk2b	T	C	14: 66,163,114	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291	S31T	possibly damaging	Het

Other mutations in Olfr729

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Olfr729	APN	14	50148716	missense	probably benign	0.38
IGL02736:Olfr729	APN	14	50148424	missense	probably benign	0.01
IGL02798:Olfr729	APN	14	50148378	missense	probably benign
IGL03267:Olfr729	APN	14	50148847	missense	probably damaging	1.00
R0082:Olfr729	UTSW	14	50148055	missense	probably damaging	0.97
R0225:Olfr729	UTSW	14	50148635	missense	probably damaging	1.00
R0503:Olfr729	UTSW	14	50148478	missense	probably damaging	1.00
R1022:Olfr729	UTSW	14	50147927	missense	probably benign
R1024:Olfr729	UTSW	14	50147927	missense	probably benign
R1424:Olfr729	UTSW	14	50148465	missense	possibly damaging	0.83
R1440:Olfr729	UTSW	14	50148358	missense	probably damaging	1.00
R1479:Olfr729	UTSW	14	50148788	missense	probably benign	0.00
R1817:Olfr729	UTSW	14	50148271	missense	probably benign	0.00
R2155:Olfr729	UTSW	14	50148697	missense	probably damaging	1.00
R2282:Olfr729	UTSW	14	50148319	missense	probably benign
R2926:Olfr729	UTSW	14	50148436	missense	probably benign	0.19
R3790:Olfr729	UTSW	14	50148569	missense	possibly damaging	0.51
R4073:Olfr729	UTSW	14	50148043	missense	possibly damaging	0.55
R5945:Olfr729	UTSW	14	50148763	missense	probably benign
R6714:Olfr729	UTSW	14	50148214	missense	possibly damaging	0.95
R7112:Olfr729	UTSW	14	50147935	missense	probably benign	0.00
R7157:Olfr729	UTSW	14	50148232	missense	probably damaging	1.00
R7511:Olfr729	UTSW	14	50148256	missense	probably damaging	1.00
R7815:Olfr729	UTSW	14	50148796	missense	probably benign	0.36
Z1177:Olfr729	UTSW	14	50148851	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCCAAGAGATTACTACCAAGGCA -3'
(R):5'- AGGCACTCTCATTAGCTCCTTCTGT -3'

Sequencing Primer
(F):5'- AATTTGGGCTATGCAGCCAC -3'
(R):5'- GTTGGCATGGTTGTTCAAATG -3'

Posted On

2014-04-24