Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Olfr818'

546061

Institutional Source

Beutler Lab

Gene Symbol

Olfr818

Ensembl Gene

ENSMUSG00000058071

Gene Name

olfactory receptor 818

Synonyms

GA_x6K02T2PULF-11624146-11623190, MOR110-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129944396-129949100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129945172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 297 (A297T)

Ref Sequence

ENSEMBL: ENSMUSP00000149259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074308] [ENSMUST00000205227] [ENSMUST00000215527]

AlphaFold

Q8VG46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074308
AA Change: A297T

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073918
Gene: ENSMUSG00000058071
AA Change: A297T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.4e-47	PFAM
Pfam:7tm_1	39	287	3.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205227

SMART Domains

Protein: ENSMUSP00000145108
Gene: ENSMUSG00000058071

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	122	5e-13	PFAM
Pfam:7tm_4	1	123	8.7e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215527
AA Change: A297T

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

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

Validation Efficiency

98% (85/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	G	2: 85,485,527	Y440H	probably damaging	Het
Acoxl	A	T	2: 128,010,083	M102L	probably benign	Het
Adcy10	A	G	1: 165,518,246	E288G	probably damaging	Het
Agap1	A	G	1: 89,888,722	H748R	probably benign	Het
Ahsg	T	C	16: 22,892,257	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,612,526	T394A	probably benign	Het
Apc	T	G	18: 34,312,076	V657G	probably damaging	Het
Arl2	T	C	19: 6,141,089	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,801,450	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,769,990	S320T	probably damaging	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
BC107364	T	G	3: 96,440,741	R77S	unknown	Het
Brox	G	A	1: 183,284,186	P206L	possibly damaging	Het
Ccrl2	T	C	9: 111,055,885	K182E	probably benign	Het
Cd19	A	G	7: 126,410,499	V465A	possibly damaging	Het
Chrdl2	A	T	7: 100,022,033	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063	P376S	probably benign	Het
Cobll1	A	G	2: 65,089,503	S1194P	probably benign	Het
Col6a4	T	C	9: 106,067,014	Y1087C	probably damaging	Het
Col9a2	G	A	4: 121,044,019		probably null	Het
Cyp4v3	A	G	8: 45,310,252	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,631,506	Y529F	probably benign	Het
Eif3b	C	T	5: 140,425,288	R165W	probably damaging	Het
Erlec1	C	A	11: 30,950,790	C126F	probably damaging	Het
Fat2	T	C	11: 55,269,433	T3285A	probably benign	Het
Fat2	G	A	11: 55,281,851	R2679*	probably null	Het
Fbxo31	T	C	8: 121,578,485	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,412,063	Y243H	probably damaging	Het
Flcn	C	T	11: 59,795,806	V374M	probably damaging	Het
Fndc5	A	G	4: 129,139,523	M128V	probably benign	Het
Gal3st1	A	G	11: 3,999,002	D403G	probably damaging	Het
Garem1	T	C	18: 21,129,994	N588D	probably benign	Het
Gas1	T	C	13: 60,176,233	T196A	probably damaging	Het
Gcn1l1	T	C	5: 115,616,546		probably null	Het
Gprc5d	T	G	6: 135,116,648	Q87P	probably damaging	Het
Grm1	A	G	10: 10,719,595	L763P	probably damaging	Het
Hivep2	G	T	10: 14,149,577	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,149,578	D2379Y	probably damaging	Het
Itgad	A	G	7: 128,182,989	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,906,485	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,414,916	S128G	probably benign	Het
Map3k9	T	C	12: 81,730,624	T528A	probably benign	Het
Mmp11	G	A	10: 75,932,396		probably benign	Het
Mycbpap	T	A	11: 94,514,614	I30F	probably damaging	Het
Nfya	T	C	17: 48,389,312	T335A	probably benign	Het
Npat	T	A	9: 53,569,916	S1008T	possibly damaging	Het
Olfr1145	A	G	2: 87,810,716	T299A	possibly damaging	Het
Olfr121	G	A	17: 37,752,409	C185Y	probably damaging	Het
Olfr494	A	T	7: 108,368,350	M287L	probably damaging	Het
Osbpl10	T	C	9: 115,223,698	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,111	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,721,362	D270G	probably damaging	Het
Pde2a	A	C	7: 101,511,597	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,113,974	D873G	probably benign	Het
Pno1	A	T	11: 17,208,880	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,354,736	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,181,413		probably benign	Het
Psma5	A	G	3: 108,265,168	I67V	probably benign	Het
Reep6	G	A	10: 80,333,965		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,591,414		probably benign	Het
Scyl2	C	G	10: 89,645,461		probably null	Het
Sdk1	T	A	5: 142,096,726		probably null	Het
Senp5	C	A	16: 31,989,295	K380N	probably benign	Het
Slc22a14	A	T	9: 119,231,215		probably null	Het
Slc26a5	T	A	5: 21,816,974	T485S	possibly damaging	Het
Slc44a5	T	C	3: 154,253,719	I349T	probably benign	Het
Smarca5	T	C	8: 80,736,726	E71G	probably benign	Het
Smok2a	A	T	17: 13,225,779	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,217,272	D388G	probably benign	Het
Tank	T	C	2: 61,653,422	V404A	probably benign	Het
Tek	A	G	4: 94,865,510	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,733,674	C16Y	probably benign	Het
Tmc1	A	G	19: 20,940,903		probably null	Het
Tnc	A	G	4: 63,984,589	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,685,132		probably null	Het
Tnrc6c	T	A	11: 117,733,618	S919T	probably damaging	Het
Trim17	C	A	11: 58,968,616	Q219K	probably benign	Het
Trim5	T	A	7: 104,265,668	H389L	probably benign	Het
Trio	T	A	15: 27,805,654	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,035,801	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,362,244	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,404,490	Y9*	probably null	Het
Vmn2r50	T	A	7: 10,047,612	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,313,286	A484E	probably benign	Het
Vps13a	T	C	19: 16,664,664	T2200A	probably benign	Het
Wdr36	T	A	18: 32,841,905	H103Q	probably benign	Het
Zfp534	G	A	4: 147,675,210	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,770,372	S897N	probably benign	Het

Other mutations in Olfr818

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Olfr818	APN	10	129945911	missense	possibly damaging	0.95
IGL00951:Olfr818	APN	10	129945712	missense	probably damaging	0.99
IGL01700:Olfr818	APN	10	129945941	missense	probably damaging	1.00
IGL02313:Olfr818	APN	10	129945903	missense	probably damaging	1.00
IGL02373:Olfr818	APN	10	129945465	missense	probably benign	0.11
IGL02983:Olfr818	APN	10	129945189	missense	probably damaging	1.00
R0730:Olfr818	UTSW	10	129945111	missense	probably benign	0.04
R1574:Olfr818	UTSW	10	129945510	missense	probably damaging	1.00
R1574:Olfr818	UTSW	10	129945510	missense	probably damaging	1.00
R1789:Olfr818	UTSW	10	129945582	nonsense	probably null
R1824:Olfr818	UTSW	10	129945337	missense	possibly damaging	0.67
R2107:Olfr818	UTSW	10	129945712	missense	probably damaging	0.99
R2398:Olfr818	UTSW	10	129945207	missense	probably benign	0.04
R5799:Olfr818	UTSW	10	129945911	missense	possibly damaging	0.95
R6048:Olfr818	UTSW	10	129945826	missense	possibly damaging	0.67
R7222:Olfr818	UTSW	10	129945889	missense	probably damaging	1.00
R7406:Olfr818	UTSW	10	129945566	missense	probably benign	0.00
R8483:Olfr818	UTSW	10	129945129	missense	probably benign	0.02
R9306:Olfr818	UTSW	10	129945420	missense	probably damaging	1.00
R9752:Olfr818	UTSW	10	129945121	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AAGCACTTTCACCTCTCAGTTAAGAAG -3'
(R):5'- TGCTCCTCACACATGGTTG -3'

Sequencing Primer
(F):5'- TCACCTCTCAGTTAAGAAGATGTAC -3'
(R):5'- ACACATGGTTGTTGTCTCCATTAC -3'

Posted On

2019-05-13