Mutagenetix > Incidental Mutations

Incidental Mutation 'R0078:Olfr215'

19538

Institutional Source

Beutler Lab

Gene Symbol

Olfr215

Ensembl Gene

ENSMUSG00000050654

Gene Name

olfactory receptor 215

Synonyms

MOR119-2, GA_x54KRFPKN04-58217732-58216800

MMRRC Submission

038365-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116580084-116584195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116582740 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 69 (S69P)

Ref Sequence

ENSEMBL: ENSMUSP00000052425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061723]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061723
AA Change: S69P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052425
Gene: ENSMUSG00000050654
AA Change: S69P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5e-47	PFAM
Pfam:7TM_GPCR_Srsx	33	258	1.8e-5	PFAM
Pfam:7tm_1	39	288	2.9e-15	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.2%

Validation Efficiency

81% (203/250)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	T	A	2: 148,785,825	*131K	probably null	Het
Abcb5	T	A	12: 118,927,394	Q456L	probably benign	Het
Abcf1	A	G	17: 35,958,062		probably benign	Het
Adamts7	A	T	9: 90,179,411	S357C	probably damaging	Het
Ankrd26	A	G	6: 118,535,069		probably benign	Het
Asb17	T	A	3: 153,844,664	V111E	probably damaging	Het
C1qtnf4	C	A	2: 90,889,549	N55K	probably damaging	Het
C77080	T	C	4: 129,227,723		probably null	Het
Cacng5	G	T	11: 107,877,433	D249E	probably benign	Het
Camkk2	C	A	5: 122,757,559		probably null	Het
Ccdc27	T	G	4: 154,035,738		probably benign	Het
Cngb1	T	A	8: 95,264,545		probably null	Het
Col7a1	A	G	9: 108,974,913		probably benign	Het
Corin	T	A	5: 72,454,473	D148V	possibly damaging	Het
Defb26	A	C	2: 152,508,068	D97E	possibly damaging	Het
Dgkb	A	G	12: 38,136,541	N237D	probably benign	Het
Dsp	A	G	13: 38,196,017	N1647S	probably benign	Het
Dtna	G	A	18: 23,621,442	A438T	probably damaging	Het
Erbb3	G	T	10: 128,583,441	F219L	probably damaging	Het
EU599041	G	A	7: 43,225,851		noncoding transcript	Het
Fat1	A	G	8: 44,953,299	N1029S	probably damaging	Het
Fat4	T	C	3: 38,888,931	S658P	probably benign	Het
Fgfr2	C	T	7: 130,201,075	D168N	possibly damaging	Het
Fstl5	T	A	3: 76,659,645		probably benign	Het
Glmn	C	T	5: 107,557,970	V451I	probably benign	Het
Gm8909	A	T	17: 36,165,461	S304T	possibly damaging	Het
Gm9938	T	A	19: 23,724,624		probably benign	Het
Gpat2	T	C	2: 127,428,249	S61P	probably damaging	Het
Gpr22	T	A	12: 31,711,641	M6L	probably benign	Het
Grm5	T	C	7: 88,074,977	L825P	probably damaging	Het
Gstz1	A	T	12: 87,159,703	I66F	probably benign	Het
H2-T22	A	G	17: 36,040,609	V243A	probably damaging	Het
Hivep1	C	T	13: 42,156,041	L586F	probably damaging	Het
Hmcn2	T	G	2: 31,388,344	L1686R	probably damaging	Het
Ice1	T	C	13: 70,603,348	R1540G	probably damaging	Het
Igha	T	A	12: 113,259,927		probably benign	Het
Kif3a	C	A	11: 53,578,985	T141K	probably benign	Het
Knl1	G	A	2: 119,069,892	M691I	probably benign	Het
L3mbtl1	T	C	2: 162,947,226	V13A	probably benign	Het
Lamc1	T	A	1: 153,229,190	N1282I	probably damaging	Het
Lemd2	G	T	17: 27,203,728	L231I	probably benign	Het
Lrrk2	G	A	15: 91,734,009	V904M	probably benign	Het
Lyzl6	C	T	11: 103,633,969	S103N	probably benign	Het
Macf1	T	A	4: 123,473,868	R2367W	probably damaging	Het
Mapk3	T	C	7: 126,759,805	Y54H	probably damaging	Het
Mlh3	A	T	12: 85,268,818	V198D	probably damaging	Het
Myocd	T	C	11: 65,187,464	S374G	possibly damaging	Het
Ngef	T	C	1: 87,540,665	E124G	probably benign	Het
Nr4a2	T	C	2: 57,112,228	Y8C	probably damaging	Het
Nynrin	T	A	14: 55,863,332	V193D	probably damaging	Het
Olfr1280	A	T	2: 111,315,904	I142F	probably benign	Het
Olfr1331	T	A	4: 118,869,227	S148T	probably benign	Het
Olfr1490	G	T	19: 13,654,815	V129F	probably benign	Het
Olfr59	A	T	11: 74,289,266	I207F	probably damaging	Het
Pcdh18	T	C	3: 49,756,344	Y174C	probably damaging	Het
Pcf11	T	C	7: 92,669,559	D21G	possibly damaging	Het
Pdia4	A	C	6: 47,798,410	F489V	possibly damaging	Het
Pitrm1	C	T	13: 6,575,032	P849S	probably damaging	Het
Plcz1	T	C	6: 139,989,784	Y644C	probably damaging	Het
Ppp5c	T	C	7: 17,027,725	E28G	probably benign	Het
Prkcb	A	G	7: 122,590,170	Y507C	probably damaging	Het
Rims2	A	G	15: 39,534,855	D1072G	probably benign	Het
Scarf1	A	G	11: 75,515,162		probably benign	Het
Scoc	T	A	8: 83,458,258		probably null	Het
Sh2d4a	A	T	8: 68,282,321	M31L	probably damaging	Het
Spta1	T	A	1: 174,207,032		probably benign	Het
Stard7	A	G	2: 127,292,207	Y270C	probably damaging	Het
Svs3b	T	C	2: 164,255,961	T147A	probably benign	Het
Tmtc3	A	G	10: 100,448,961	L604P	probably damaging	Het
Trim30b	A	T	7: 104,365,895	N95K	probably benign	Het
Trpm8	C	A	1: 88,328,148		probably benign	Het
Tspan9	T	C	6: 127,966,485		probably null	Het
Tubgcp5	C	T	7: 55,818,895	R713C	probably damaging	Het
Tyro3	A	T	2: 119,817,006	Q872L	probably damaging	Het
Vmn1r204	G	A	13: 22,556,209	M3I	probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Wdfy3	A	G	5: 101,888,105	I2149T	possibly damaging	Het
Wdr66	G	A	5: 123,298,570	R1054H	probably benign	Het
Zfp668	A	T	7: 127,868,038	M122K	possibly damaging	Het
Zkscan1	A	T	5: 138,093,101	D32V	probably damaging	Het

Other mutations in Olfr215

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:Olfr215	APN	6	116582335	missense	possibly damaging	0.93
IGL02959:Olfr215	APN	6	116582544	missense	probably damaging	1.00
IGL03053:Olfr215	APN	6	116582245	missense	possibly damaging	0.50
R0277:Olfr215	UTSW	6	116582601	missense	probably damaging	0.99
R0323:Olfr215	UTSW	6	116582601	missense	probably damaging	0.99
R0399:Olfr215	UTSW	6	116582781	missense	probably benign	0.00
R0545:Olfr215	UTSW	6	116582656	missense	probably benign	0.01
R1213:Olfr215	UTSW	6	116582866	missense	probably benign	0.00
R1775:Olfr215	UTSW	6	116582964	start gained	probably benign
R1789:Olfr215	UTSW	6	116582697	missense	probably damaging	1.00
R4724:Olfr215	UTSW	6	116582937	missense	probably damaging	1.00
R5391:Olfr215	UTSW	6	116582847	missense	probably damaging	1.00
R5392:Olfr215	UTSW	6	116582418	missense	probably damaging	1.00
R5686:Olfr215	UTSW	6	116582929	missense	probably benign	0.00
R6124:Olfr215	UTSW	6	116582485	missense	probably benign	0.05
R7080:Olfr215	UTSW	6	116582353	missense	probably damaging	1.00
R7355:Olfr215	UTSW	6	116582955	start gained	probably benign
Z1177:Olfr215	UTSW	6	116582553	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCAGAGGCTTGCAAATAGCTACAC -3'
(R):5'- ACCTTGAACAGGCTGCTGAATGAC -3'

Sequencing Primer
(F):5'- TTGCAAATAGCTACACACCTGTC -3'
(R):5'- TGCACTGTGAGAATACCTCTG -3'

Posted On

2013-04-11