Mutagenetix > Incidental Mutation

Incidental Mutation 'R5426:Olfr492'

426886

Institutional Source

Beutler Lab

Gene Symbol

Olfr492

Ensembl Gene

ENSMUSG00000109497

Gene Name

olfactory receptor 492

Synonyms

MOR204-18, GA_x6K02T2PBJ9-10653693-10652749

MMRRC Submission

042992-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R5426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108322730-108323674 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108322810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 289 (N289D)

Ref Sequence

ENSEMBL: ENSMUSP00000146417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053179] [ENSMUST00000079865] [ENSMUST00000209545] [ENSMUST00000214605]

AlphaFold

Q8VFD1

Predicted Effect

probably benign
Transcript: ENSMUST00000053179

SMART Domains

Protein: ENSMUSP00000061188
Gene: ENSMUSG00000094612

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.4e-50	PFAM
Pfam:7tm_1	41	290	5.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079865
AA Change: N289D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000209545

Predicted Effect

probably benign
Transcript: ENSMUST00000214605

Meta Mutation Damage Score

0.6935

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

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
2010315B03Rik	T	A	9: 124,294,003 (GRCm38)	H122L	probably damaging	Het
9330182O14Rik	G	A	15: 40,148,537 (GRCm38)	D91N	unknown	Het
9330182O14Rik	G	A	15: 40,148,536 (GRCm38)	M90I	unknown	Het
Abca13	T	A	11: 9,290,722 (GRCm38)	S862T	probably damaging	Het
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adgb	C	A	10: 10,350,260 (GRCm38)	A1405S	probably benign	Het
Adpgk	T	A	9: 59,297,549 (GRCm38)	V86E	probably damaging	Het
Agfg2	G	C	5: 137,667,758 (GRCm38)	P80A	probably damaging	Het
Akap11	G	A	14: 78,498,864 (GRCm38)	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,559,299 (GRCm38)	R62Q	probably benign	Het
Als2cr12	T	A	1: 58,666,886 (GRCm38)	K275*	probably null	Het
Amd1	G	T	10: 40,290,187 (GRCm38)	D265E	probably damaging	Het
Aox4	A	T	1: 58,220,094 (GRCm38)	Q106L	probably damaging	Het
Arap2	A	T	5: 62,642,816 (GRCm38)	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,986,584 (GRCm38)	S874G	probably damaging	Het
BC067074	G	A	13: 113,369,053 (GRCm38)	V2239I	probably benign	Het
C87499	T	A	4: 88,629,410 (GRCm38)		probably benign	Het
Ccdc166	T	C	15: 75,982,096 (GRCm38)	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,795,897 (GRCm38)	R205H	probably damaging	Het
Cdk14	A	G	5: 4,888,975 (GRCm38)	S388P	possibly damaging	Het
Chgb	A	T	2: 132,793,533 (GRCm38)	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,898,875 (GRCm38)	W109R	probably damaging	Het
Cyp2b9	T	C	7: 26,187,655 (GRCm38)	V163A	probably benign	Het
Dcpp2	T	A	17: 23,899,313 (GRCm38)	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,806,466 (GRCm38)	E315V	possibly damaging	Het
Defb29	C	A	2: 152,538,948 (GRCm38)	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,242,206 (GRCm38)	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,745,745 (GRCm38)	I854F	probably damaging	Het
Dsg4	T	C	18: 20,458,484 (GRCm38)	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,690,670 (GRCm38)	A23T	unknown	Het
Gemin5	A	G	11: 58,125,287 (GRCm38)	S1297P	probably benign	Het
Gm10309	A	C	17: 86,498,733 (GRCm38)		probably benign	Het
Gm884	A	T	11: 103,620,760 (GRCm38)	H127Q	unknown	Het
Gpatch11	T	A	17: 78,841,234 (GRCm38)	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,732,368 (GRCm38)	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 78,773,713 (GRCm38)	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,336,544 (GRCm38)	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,709,619 (GRCm38)	I123F	probably damaging	Het
Kalrn	A	T	16: 34,262,653 (GRCm38)	V644D	probably damaging	Het
Kifap3	A	G	1: 163,779,871 (GRCm38)	M1V	probably null	Het
Klhl11	A	G	11: 100,464,116 (GRCm38)	L293P	probably damaging	Het
Klrc3	G	A	6: 129,641,550 (GRCm38)	S98L	probably benign	Het
Med12l	G	A	3: 59,248,722 (GRCm38)	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,325,802 (GRCm38)		probably null	Het
Mybpc2	A	G	7: 44,509,829 (GRCm38)	V599A	probably benign	Het
Naalad2	T	C	9: 18,347,519 (GRCm38)	N487D	probably benign	Het
Nat8f7	T	G	6: 85,707,823 (GRCm38)	S12R	probably benign	Het
Nefm	T	A	14: 68,120,066 (GRCm38)		probably benign	Het
Nlrp5	T	C	7: 23,418,201 (GRCm38)	V450A	probably damaging	Het
Nps	G	A	7: 135,268,647 (GRCm38)		probably null	Het
Olfr1247	T	C	2: 89,609,739 (GRCm38)	Y121C	probably damaging	Het
Olfr142	T	A	2: 90,252,611 (GRCm38)	K126*	probably null	Het
Olfr159	A	G	4: 43,770,168 (GRCm38)	I281T	probably benign	Het
Olfr192	G	T	16: 59,098,302 (GRCm38)	P230Q	possibly damaging	Het
Olfr513	T	C	7: 108,755,717 (GRCm38)	L287P	possibly damaging	Het
Olfr698	C	A	7: 106,752,566 (GRCm38)	S274I	probably benign	Het
Oxct2a	C	A	4: 123,322,713 (GRCm38)	G292W	possibly damaging	Het
Prr27	T	C	5: 87,850,885 (GRCm38)		probably benign	Het
Ptx3	T	C	3: 66,220,722 (GRCm38)	M68T	probably damaging	Het
Rufy1	A	G	11: 50,421,734 (GRCm38)	L131S	probably damaging	Het
Sept7	T	A	9: 25,286,690 (GRCm38)	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,341,797 (GRCm38)	I143V	probably benign	Het
Slc25a34	A	G	4: 141,623,566 (GRCm38)	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,563,154 (GRCm38)	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,003,236 (GRCm38)		probably null	Het
Slco4a1	C	A	2: 180,471,235 (GRCm38)	A420D	possibly damaging	Het
Smap1	T	C	1: 23,849,390 (GRCm38)	T180A	probably benign	Het
Specc1l	T	C	10: 75,267,550 (GRCm38)	S920P	probably benign	Het
Tgtp2	A	G	11: 49,059,256 (GRCm38)	M163T	probably benign	Het
Tiam1	G	T	16: 89,865,392 (GRCm38)	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,464,823 (GRCm38)	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,115,671 (GRCm38)	Y512C	probably damaging	Het
Wdfy3	T	A	5: 101,919,446 (GRCm38)	N1207Y	probably damaging	Het
Wdr17	C	T	8: 54,681,399 (GRCm38)	G349R	probably damaging	Het
Wdr70	A	G	15: 7,922,105 (GRCm38)	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,450,896 (GRCm38)	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,257,192 (GRCm38)	C391*	probably null	Het
Zfp638	A	G	6: 83,976,414 (GRCm38)	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,019,595 (GRCm38)	D192V	probably benign	Het
Zfp853	T	G	5: 143,288,869 (GRCm38)	Q332P	unknown	Het

Other mutations in Olfr492

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3056:Olfr492	UTSW	7	108,323,550 (GRCm38)	missense	possibly damaging	0.81
R3928:Olfr492	UTSW	7	108,323,025 (GRCm38)	missense	probably benign	0.16
R5267:Olfr492	UTSW	7	108,322,978 (GRCm38)	missense	probably damaging	0.98
R5987:Olfr492	UTSW	7	108,323,047 (GRCm38)	missense	probably benign	0.00
R6800:Olfr492	UTSW	7	108,323,253 (GRCm38)	missense	probably benign	0.02
R6994:Olfr492	UTSW	7	108,322,894 (GRCm38)	missense	possibly damaging	0.57
R7516:Olfr492	UTSW	7	108,323,016 (GRCm38)	missense	probably damaging	1.00
R8139:Olfr492	UTSW	7	108,322,906 (GRCm38)	missense	probably benign	0.03
R8269:Olfr492	UTSW	7	108,323,569 (GRCm38)	missense	probably benign	0.03
R9440:Olfr492	UTSW	7	108,322,830 (GRCm38)	missense	probably benign
R9674:Olfr492	UTSW	7	108,323,064 (GRCm38)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GGTGGACCATTATCAAAACACAATG -3'
(R):5'- TGAAGATGCGCTCCACTGAG -3'

Sequencing Primer
(F):5'- ACACAATGTATAAAATTCACAAAGGC -3'
(R):5'- TCCACTGAGGGTCGACACAAG -3'

Posted On

2016-09-01