Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Olfr487'

696475

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108208868-108214636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108211962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 189 (E189G)

Ref Sequence

ENSEMBL: ENSMUSP00000149407 (fasta)

Gene Model

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

AlphaFold

Q7TRU9

Predicted Effect

probably benign
Transcript: ENSMUST00000081996
AA Change: E189G

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: E189G

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 benign
Transcript: ENSMUST00000216489
AA Change: E189G

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.2007

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Atp9b	G	A	18: 80,917,778	R73*	probably null	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5415	G	T	1: 32,546,084	H248Q	probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Myo7a	T	C	7: 98,083,162	D706G	probably benign	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Ppfibp2	T	A	7: 107,738,318	L609*	probably null	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Slc39a6	A	G	18: 24,582,342	F707S	probably damaging	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Spg20	T	A	3: 55,124,846	V367D	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vta1	A	G	10: 14,675,999	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	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
R4738:Olfr487	UTSW	7	108211994	missense	probably damaging	0.99
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
R9108:Olfr487	UTSW	7	108211639	missense	probably damaging	1.00
Z1177:Olfr487	UTSW	7	108211969	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATAGTAGAGAGTGACTGCAG -3'
(R):5'- CTGCCATGGCTTATGATCGC -3'

Sequencing Primer
(F):5'- CTGCAGTGAGGTGGGACATG -3'
(R):5'- GCTTGGTAGCAATCTGCAAC -3'

Posted On

2022-02-07