Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Olfr1054'

568195

Institutional Source

Beutler Lab

Gene Symbol

Olfr1054

Ensembl Gene

ENSMUSG00000075190

Gene Name

olfactory receptor 1054

Synonyms

GA_x6K02T2Q125-47811880-47810942, MOR188-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86332135-86335433 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86332564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 264 (S264N)

Ref Sequence

ENSEMBL: ENSMUSP00000150810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099895] [ENSMUST00000213205]

AlphaFold

Q8VGS7

Predicted Effect

probably benign
Transcript: ENSMUST00000099895
AA Change: S264N

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: S264N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.8e-49	PFAM
Pfam:7tm_1	41	289	5.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213205
AA Change: S264N

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151	V1352D	probably damaging	Het
Adam33	C	T	2: 131,053,694	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,087,462	G422C	probably benign	Het
Ang	T	A	14: 51,101,411	I3K	unknown	Het
Ankrd10	A	T	8: 11,615,841	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,877,797	I806V	probably benign	Het
Atp10b	T	C	11: 43,212,547	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,604,304	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,682,688	R117*	probably null	Het
Brwd1	A	T	16: 96,066,119	M172K	probably damaging	Het
Bsn	G	A	9: 108,126,421	R262*	probably null	Het
Bst2	A	C	8: 71,537,207	L74R	probably damaging	Het
C1qa	T	C	4: 136,896,154	*246W	probably null	Het
Cadm2	G	A	16: 66,882,846	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,259,966	T34A	probably benign	Het
Ccdc178	G	A	18: 22,105,549	T337M	probably benign	Het
Ccl8	T	C	11: 82,116,582	V81A	probably damaging	Het
Dgcr6	A	G	16: 18,070,907	T69A	unknown	Het
Dnah10	A	G	5: 124,821,269	D3762G	probably benign	Het
Eif3d	T	C	15: 77,961,676	T382A	probably benign	Het
Epb41	A	T	4: 131,989,719	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,503,851	H258L	probably damaging	Het
Fbn1	A	C	2: 125,479,195	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,735,328	S425P	probably damaging	Het
Gfra2	T	A	14: 70,968,391	V398D	probably benign	Het
Gm3755	A	G	14: 7,448,178	L130P		Het
Grin3b	A	G	10: 79,975,695	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,459,081	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,684,011	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,920,667	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,533,791	D458G	possibly damaging	Het
Klb	A	T	5: 65,383,364	E933D	probably benign	Het
Lrp1	A	T	10: 127,545,564	M3855K	probably benign	Het
Map3k4	A	T	17: 12,270,946	L533I	probably damaging	Het
Mrps6	C	A	16: 92,058,447	Y4*	probably null	Het
Nabp1	A	T	1: 51,473,070	V105E	probably damaging	Het
Naip6	T	A	13: 100,299,388	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,308,645	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238	E590D	probably benign	Het
Olfr1106	A	T	2: 87,048,479	Y252*	probably null	Het
Olfr1564	A	G	17: 33,215,699	I215T	probably damaging	Het
Olfr362	T	C	2: 37,105,591	R20G	probably null	Het
Olfr597	T	A	7: 103,321,287	V292E		Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,162	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,157,690	S142P	probably benign	Het
Postn	T	C	3: 54,370,280	L232P	probably damaging	Het
Prss8	T	C	7: 127,929,563	T33A	probably benign	Het
Rapgef2	A	T	3: 79,145,823	M1K	probably null	Het
Rasa3	T	C	8: 13,595,857	N161S	possibly damaging	Het
Riox1	G	A	12: 83,950,668		probably benign	Het
Rmdn2	A	T	17: 79,621,611	K97N	probably damaging	Het
Sgo1	A	G	17: 53,677,057	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,451,302	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,691,848	G21D	not run	Het
Spata31d1d	C	A	13: 59,726,976	R915L	probably benign	Het
Stk17b	A	T	1: 53,765,945	N152K	probably benign	Het
Syne2	T	A	12: 75,984,024	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 150,934,337	D155G	probably damaging	Het
Tnrc6a	T	A	7: 123,171,508	D840E	probably benign	Het
Tyk2	G	A	9: 21,110,204	S902L	probably benign	Het
Unc119	T	C	11: 78,348,623	S235P	probably damaging	Het
Vav1	A	C	17: 57,302,266	D394A	probably benign	Het
Vezf1	T	A	11: 88,081,584	I439K	possibly damaging	Het
Zadh2	A	G	18: 84,095,135	Y312C	probably damaging	Het
Zfp335	A	T	2: 164,910,821	M1K	probably null	Het
Zfp715	T	C	7: 43,311,138	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,690,409	E382K	possibly damaging	Het

Other mutations in Olfr1054

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Olfr1054	APN	2	86332704	nonsense	probably null
IGL02266:Olfr1054	APN	2	86332979	missense	probably damaging	0.98
IGL02398:Olfr1054	APN	2	86332524	nonsense	probably null
IGL02535:Olfr1054	APN	2	86332675	missense	probably damaging	1.00
IGL02590:Olfr1054	APN	2	86333000	missense	possibly damaging	0.52
IGL02630:Olfr1054	APN	2	86332868	missense	probably benign	0.39
PIT4151001:Olfr1054	UTSW	2	86332829	missense	possibly damaging	0.60
R0520:Olfr1054	UTSW	2	86333131	missense	probably damaging	1.00
R1079:Olfr1054	UTSW	2	86332841	missense	probably damaging	0.96
R1887:Olfr1054	UTSW	2	86333273	missense	possibly damaging	0.90
R2037:Olfr1054	UTSW	2	86332430	missense	probably benign	0.03
R2120:Olfr1054	UTSW	2	86333345	missense	probably benign	0.00
R2153:Olfr1054	UTSW	2	86332528	missense	probably damaging	1.00
R4523:Olfr1054	UTSW	2	86333300	missense	probably benign	0.12
R4836:Olfr1054	UTSW	2	86333227	missense	probably benign	0.12
R6147:Olfr1054	UTSW	2	86332500	missense	probably damaging	1.00
R6802:Olfr1054	UTSW	2	86333185	missense	possibly damaging	0.91
R6886:Olfr1054	UTSW	2	86333064	nonsense	probably null
R6894:Olfr1054	UTSW	2	86332951	missense	probably damaging	1.00
R7275:Olfr1054	UTSW	2	86332792	missense	possibly damaging	0.91
R7325:Olfr1054	UTSW	2	86333000	missense	possibly damaging	0.52
R7526:Olfr1054	UTSW	2	86333353	start codon destroyed	probably null	1.00
R7976:Olfr1054	UTSW	2	86332720	missense	probably benign	0.05
R8421:Olfr1054	UTSW	2	86332903	missense	possibly damaging	0.80
R8838:Olfr1054	UTSW	2	86332973	missense	possibly damaging	0.61
R9297:Olfr1054	UTSW	2	86332844	missense	probably benign	0.01
Z1176:Olfr1054	UTSW	2	86332706	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGGGTGCAAATTTTAAGAC -3'
(R):5'- AGTCATTTCTGCGATAGTCTCC -3'

Sequencing Primer
(F):5'- GTGGGTGCAAATTTTAAGACAATAG -3'
(R):5'- GCGATAGTCTCCCTTTAATATCATTG -3'

Posted On

2019-06-26