Mutagenetix > Incidental Mutations

Incidental Mutation 'R4738:Olfr487'

359432

Institutional Source

Beutler Lab

Gene Symbol

Olfr487

Ensembl Gene

ENSMUSG00000095929

Gene Name

olfactory receptor 487

Synonyms

MOR204-31P, MOR204-29P, GA_x6K02T2PBJ9-10541702-10540758, Olfr1538-ps1, MOR204-31P

MMRRC Submission

041964-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108208868-108214636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108211994 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 178 (N178K)

Ref Sequence

ENSEMBL: ENSMUSP00000149407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081996] [ENSMUST00000216489]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081996
AA Change: N178K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: N178K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	6.1e-50	PFAM
Pfam:7tm_1	44	293	1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216489
AA Change: N178K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,973,983	I176T	probably benign	Het
Angpt2	C	T	8: 18,741,059	D74N	probably benign	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Areg	T	C	5: 91,146,724	I247T	possibly damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,103,410	S246T	probably benign	Het
Atp8b1	T	C	18: 64,545,180	R882G	probably benign	Het
Atp9a	A	G	2: 168,668,181	V444A	probably benign	Het
Babam2	T	A	5: 31,901,142	Y211N	probably damaging	Het
Btbd11	C	T	10: 85,627,248	Q626*	probably null	Het
Ccdc127	T	G	13: 74,357,068		probably benign	Het
Cep192	A	T	18: 67,884,830	K2500*	probably null	Het
Cnot4	T	C	6: 35,051,376	N435S	probably benign	Het
Col12a1	T	C	9: 79,699,282	I620V	probably damaging	Het
Cyth4	G	A	15: 78,605,874	M62I	probably benign	Het
Dbt	T	C	3: 116,539,132	I200T	probably damaging	Het
Dchs1	C	T	7: 105,758,673	R1984Q	probably damaging	Het
Depdc5	A	G	5: 32,975,322	M1237V	probably benign	Het
Disp2	A	G	2: 118,790,326	Y513C	probably damaging	Het
Dph7	T	C	2: 24,963,131	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,430,078	M384K	probably benign	Het
Emc1	G	T	4: 139,362,202	G227V	possibly damaging	Het
Eri2	A	G	7: 119,787,732		probably null	Het
Frzb	A	G	2: 80,424,597		probably null	Het
Ganc	T	A	2: 120,452,594	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,054,747		probably benign	Het
Gm3086	A	T	12: 69,969,381		probably benign	Het
Gsdmc2	A	T	15: 63,826,801	Y315*	probably null	Het
Haus6	A	G	4: 86,600,749		probably null	Het
Hhip	C	T	8: 79,992,570	D443N	probably damaging	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Kank2	T	C	9: 21,774,619	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,283,133	R345S	probably benign	Het
Larp7	A	G	3: 127,546,045		probably null	Het
Lgals12	A	G	19: 7,604,099	V81A	probably benign	Het
Lhx9	A	G	1: 138,832,748	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,026,999	H213L	probably damaging	Het
Met	T	C	6: 17,491,541	C101R	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Neb	A	C	2: 52,187,482	S1846A	probably damaging	Het
Nr3c2	T	C	8: 76,909,307	S346P	possibly damaging	Het
Olfr1564	A	G	17: 33,215,810	F178S	probably benign	Het
Olfr187	T	C	16: 59,036,195	I181V	probably benign	Het
Olfr376	G	T	11: 73,375,350	L200F	possibly damaging	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Osbpl10	A	G	9: 115,216,574	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,979,918	V210A	probably damaging	Het
Pam	A	T	1: 97,923,132	V167D	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pbx4	C	T	8: 69,864,969	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,403,415	C821R	probably benign	Het
Plekhg3	T	C	12: 76,576,914	I976T	probably damaging	Het
Pold1	G	A	7: 44,541,329	R304C	probably damaging	Het
Prss38	T	C	11: 59,372,945	T314A	probably benign	Het
Psph	T	C	5: 129,769,386		probably null	Het
Ptprj	G	A	2: 90,440,643	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,934,436	E648G	probably damaging	Het
Ralgds	A	G	2: 28,545,416	E465G	probably damaging	Het
Rfng	T	C	11: 120,783,964	T67A	probably damaging	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Rps6kl1	G	T	12: 85,140,387	F181L	probably benign	Het
Spata46	G	A	1: 170,311,886	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,477,980	N124K	probably damaging	Het
Sspo	C	T	6: 48,478,396	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,797,089	I231T	probably damaging	Het
Tff3	G	A	17: 31,127,509	P30S	probably benign	Het
Thg1l	C	T	11: 45,954,191	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,256,882	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,090,502	T14A	probably damaging	Het
Tspan17	T	A	13: 54,795,064	C116*	probably null	Het
Ttn	T	C	2: 76,880,546		probably benign	Het
Tyr	T	C	7: 87,492,647	Y158C	probably null	Het
U2af1l4	G	T	7: 30,563,348		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,447,070	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,239,076	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,464,142		probably null	Het
Zfp521	T	C	18: 13,844,054	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,317,165	F345I	probably benign	Het
Zswim2	T	A	2: 83,915,395	R566S	probably benign	Het

Other mutations in Olfr487

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Olfr487	APN	7	108211726	missense	probably benign	0.06
IGL03133:Olfr487	APN	7	108212387	missense	possibly damaging	0.94
IGL03326:Olfr487	APN	7	108211630	missense	probably benign	0.03
R0141:Olfr487	UTSW	7	108212003	missense	possibly damaging	0.59
R0344:Olfr487	UTSW	7	108211742	nonsense	probably null
R0595:Olfr487	UTSW	7	108211661	missense	probably damaging	1.00
R1427:Olfr487	UTSW	7	108212094	missense	probably benign	0.07
R2023:Olfr487	UTSW	7	108211842	missense	probably damaging	1.00
R2065:Olfr487	UTSW	7	108212340	missense	probably damaging	0.98
R2068:Olfr487	UTSW	7	108212340	missense	probably damaging	0.98
R3410:Olfr487	UTSW	7	108212283	missense	possibly damaging	0.95
R4024:Olfr487	UTSW	7	108211742	nonsense	probably null
R4619:Olfr487	UTSW	7	108212094	missense	possibly damaging	0.78
R5004:Olfr487	UTSW	7	108212116	nonsense	probably null
R5684:Olfr487	UTSW	7	108212072	nonsense	probably null
R6782:Olfr487	UTSW	7	108212463	missense	probably benign	0.03
R6889:Olfr487	UTSW	7	108211918	missense	probably benign	0.00
R7010:Olfr487	UTSW	7	108212142	missense	probably damaging	0.98
R7076:Olfr487	UTSW	7	108211998	missense	probably damaging	1.00
R8162:Olfr487	UTSW	7	108211788	missense	probably damaging	1.00
R8190:Olfr487	UTSW	7	108211807	missense	possibly damaging	0.80
Z1177:Olfr487	UTSW	7	108211969	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTGGAGTGCATCTTCAGG -3'
(R):5'- TGTGGCATACAGCTCAGCTC -3'

Sequencing Primer
(F):5'- CTTCAGGATGGTGATGACAATATAG -3'
(R):5'- CTGGCTGCCATGGCTTATGATC -3'

Posted On

2015-11-11