Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Olfr294'

263740

Institutional Source

Beutler Lab

Gene Symbol

Olfr294

Ensembl Gene

ENSMUSG00000062042

Gene Name

olfactory receptor 294

Synonyms

GA_x6K02T2NHDJ-9504525-9505532, MOR219-5

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86615636-86616643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86615676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 323 (Y323C)

Ref Sequence

ENSEMBL: ENSMUSP00000077662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078588]

AlphaFold

F7CWV4

Predicted Effect

probably benign
Transcript: ENSMUST00000078588
AA Change: Y323C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077662
Gene: ENSMUSG00000062042
AA Change: Y323C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	1.2e-38	PFAM
Pfam:7tm_1	39	288	1.8e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	Het

Other mutations in Olfr294

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Olfr294	APN	7	86615997	missense	probably damaging	1.00
IGL02617:Olfr294	APN	7	86615664	missense	probably benign	0.14
IGL02694:Olfr294	APN	7	86616310	missense	probably benign	0.00
IGL02828:Olfr294	APN	7	86616069	missense	possibly damaging	0.67
IGL03229:Olfr294	APN	7	86616078	missense	probably benign	0.00
IGL03351:Olfr294	APN	7	86615677	missense	possibly damaging	0.68
PIT4802001:Olfr294	UTSW	7	86616555	missense	probably null	1.00
R0848:Olfr294	UTSW	7	86615640	missense	probably damaging	0.96
R1448:Olfr294	UTSW	7	86616361	missense	probably damaging	1.00
R1720:Olfr294	UTSW	7	86616456	missense	probably damaging	1.00
R1734:Olfr294	UTSW	7	86616217	missense	probably benign	0.07
R1959:Olfr294	UTSW	7	86616431	missense	probably benign	0.00
R2116:Olfr294	UTSW	7	86616078	missense	probably benign	0.00
R2518:Olfr294	UTSW	7	86616187	missense	probably benign	0.03
R3034:Olfr294	UTSW	7	86615762	missense	possibly damaging	0.50
R3110:Olfr294	UTSW	7	86615676	missense	probably benign
R3690:Olfr294	UTSW	7	86616478	missense	probably damaging	1.00
R4612:Olfr294	UTSW	7	86615736	missense	probably benign	0.00
R6476:Olfr294	UTSW	7	86616010	missense	probably benign	0.04
R6895:Olfr294	UTSW	7	86616115	missense	probably damaging	1.00
R7102:Olfr294	UTSW	7	86616267	missense	probably benign	0.25
R7104:Olfr294	UTSW	7	86615692	missense	probably null	0.07
R7179:Olfr294	UTSW	7	86616366	missense	possibly damaging	0.76
R7256:Olfr294	UTSW	7	86615665	missense	probably benign	0.03
R7624:Olfr294	UTSW	7	86616561	missense	possibly damaging	0.47
R8422:Olfr294	UTSW	7	86616258	missense	probably benign	0.13
R9432:Olfr294	UTSW	7	86615857	missense	possibly damaging	0.66
R9700:Olfr294	UTSW	7	86616410	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGAATGGCTTTACATACAAGAGC -3'
(R):5'- CTTGCTTTGTCAATCTGAAGCC -3'

Sequencing Primer
(F):5'- GCTTTACATACAAGAGCAGAAATTGG -3'
(R):5'- ACCCTCACGTTCAGCATCAATTG -3'

Posted On

2015-02-05