Mutagenetix > Incidental Mutations

Incidental Mutation 'R1116:Olfr462'

97313

Institutional Source

Beutler Lab

Gene Symbol

Olfr462

Ensembl Gene

ENSMUSG00000093839

Gene Name

olfactory receptor 462

Synonyms

MOR240-3, GA_x6K02T2PAEV-9536824-9535889

MMRRC Submission

039189-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87884979-87892268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87889408 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 163 (M163L)

Ref Sequence

ENSEMBL: ENSMUSP00000150179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049743] [ENSMUST00000081417] [ENSMUST00000213672] [ENSMUST00000213928] [ENSMUST00000215150] [ENSMUST00000217095]

Predicted Effect

probably benign
Transcript: ENSMUST00000049743
AA Change: M163L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000055334
Gene: ENSMUSG00000093839
AA Change: M163L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.2e-40	PFAM
Pfam:7tm_1	41	287	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081417

SMART Domains

Protein: ENSMUSP00000080146
Gene: ENSMUSG00000093920

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	6.3e-41	PFAM
Pfam:7tm_1	41	287	8.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213672
AA Change: M163L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000213928
AA Change: M163L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000215150

Predicted Effect

probably benign
Transcript: ENSMUST00000217095

Meta Mutation Damage Score

0.1135

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	T	10: 3,120,180		noncoding transcript	Het
Abi3bp	T	C	16: 56,686,429		probably benign	Het
Acacb	C	T	5: 114,210,956	P1028S	probably damaging	Het
Acad10	A	G	5: 121,630,751	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,438,428	Y705N	probably benign	Het
Adm	A	G	7: 110,628,294	I6V	probably benign	Het
Agps	T	G	2: 75,861,925		probably benign	Het
Atr	C	T	9: 95,867,636	Q501*	probably null	Het
Cacna2d3	A	G	14: 29,064,321		probably benign	Het
Ccnt1	G	A	15: 98,544,338	R350W	probably damaging	Het
Cfap74	G	A	4: 155,433,996	E564K	probably benign	Het
Clip1	T	C	5: 123,579,491	E1250G	probably damaging	Het
Cryz	A	C	3: 154,621,603		probably benign	Het
Dnah1	C	A	14: 31,307,867	V494F	probably benign	Het
Dpep3	G	T	8: 105,978,829	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,129,182	A418V	probably damaging	Het
Ehf	T	A	2: 103,267,009	N231I	probably damaging	Het
Eif4g3	T	C	4: 138,091,775		probably null	Het
Ergic3	G	A	2: 156,016,787	V278M	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam178b	A	T	1: 36,578,588	C82*	probably null	Het
Gm1647	C	T	3: 69,156,872	Q31*	probably null	Het
Got1	T	A	19: 43,502,974	K346*	probably null	Het
Grid2ip	G	A	5: 143,382,914	G656D	possibly damaging	Het
Grm2	A	G	9: 106,647,927	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,384,681	I381T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
March11	T	C	15: 26,409,295	L360P	probably damaging	Het
Mettl17	T	C	14: 51,889,598	V281A	probably benign	Het
Micu2	A	T	14: 57,954,200	D131E	probably benign	Het
Mug1	G	C	6: 121,870,645	V661L	probably benign	Het
Myo18b	A	T	5: 112,803,279	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,437,454	V51I	probably benign	Het
Nlgn1	A	C	3: 25,433,874	S766A	probably benign	Het
Otog	T	C	7: 46,300,601		probably benign	Het
Pax2	T	C	19: 44,757,424	S11P	probably damaging	Het
Pck2	A	G	14: 55,545,366	D392G	probably benign	Het
Plxnd1	A	T	6: 115,967,005		probably null	Het
Prkdc	A	G	16: 15,783,079	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,126,002	L149P	probably damaging	Het
Purg	A	T	8: 33,386,745	H137L	probably benign	Het
Slc38a8	A	T	8: 119,496,133	L150Q	probably damaging	Het
Tifab	T	A	13: 56,176,212	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,162,985	H353R	probably benign	Het
Upk2	A	G	9: 44,453,789		probably null	Het
Zdhhc25	G	A	15: 88,600,620	V53I	probably benign	Het
Zfp738	T	A	13: 67,670,243		probably null	Het
Zfp810	C	T	9: 22,279,085	E176K	probably benign	Het
Zfp846	T	A	9: 20,593,263	W140R	possibly damaging	Het

Other mutations in Olfr462

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0613:Olfr462	UTSW	11	87889227	missense	possibly damaging	0.90
R1371:Olfr462	UTSW	11	87889296	missense	probably damaging	1.00
R1415:Olfr462	UTSW	11	87889647	missense	possibly damaging	0.91
R1444:Olfr462	UTSW	11	87889759	missense	probably benign	0.00
R4591:Olfr462	UTSW	11	87889549	missense	probably benign	0.35
R4860:Olfr462	UTSW	11	87889225	missense	probably damaging	1.00
R4860:Olfr462	UTSW	11	87889225	missense	probably damaging	1.00
R5019:Olfr462	UTSW	11	87888975	missense	probably benign
R5521:Olfr462	UTSW	11	87889719	missense	probably damaging	0.99
R6967:Olfr462	UTSW	11	87889498	missense	probably benign	0.02
R7186:Olfr462	UTSW	11	87889765	missense	possibly damaging	0.69
R8025:Olfr462	UTSW	11	87888951	critical splice donor site	probably null
R8245:Olfr462	UTSW	11	87889617	missense	probably damaging	1.00
R8918:Olfr462	UTSW	11	87889458	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAGTGAGACCTCAGCATCACCAG -3'
(R):5'- AGGCTCCACACACCTATGTACTTCC -3'

Sequencing Primer
(F):5'- CATCACCAGGATGACCAAGTAGG -3'
(R):5'- GGACTTCCTCTCTGAGAAGAAGAC -3'

Posted On

2014-01-05