Mutagenetix > Incidental Mutations

Incidental Mutation 'R2265:Olfr164'

244113

Institutional Source

Beutler Lab

Gene Symbol

Olfr164

Ensembl Gene

ENSMUSG00000050742

Gene Name

olfactory receptor 164

Synonyms

GA_x54KRFPKG5P-15738260-15737319, MOR279-2

MMRRC Submission

040265-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R2265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19284104-19314064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19286555 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 63 (Y63H)

Ref Sequence

ENSEMBL: ENSMUSP00000149971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056727] [ENSMUST00000216157]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056727
AA Change: Y63H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: Y63H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	2.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	38	308	8.2e-8	PFAM
Pfam:7tm_1	44	293	5.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216157
AA Change: Y63H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	G	X: 18,423,687	S179P	possibly damaging	Het
A830018L16Rik	T	C	1: 11,972,104		probably null	Het
Aadac	T	A	3: 60,037,316	D136E	probably damaging	Het
Abca16	A	G	7: 120,431,160	D165G	probably benign	Het
Adam24	T	A	8: 40,680,071	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,363,871	S103P	probably damaging	Het
Agrn	C	T	4: 156,179,218	G173R	probably damaging	Het
Alg11	T	A	8: 22,065,614	V255E	probably benign	Het
Aox1	C	A	1: 58,081,520	D857E	probably damaging	Het
Apob	T	C	12: 8,015,475	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,592,225	T242A	probably benign	Het
Cdca7	T	C	2: 72,482,490	L190P	probably benign	Het
Cenpe	A	G	3: 135,261,636	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,916	I126F	possibly damaging	Het
Col16a1	C	A	4: 130,052,918	H111Q	probably benign	Het
Cops3	T	C	11: 59,827,890	T193A	probably benign	Het
Dbr1	G	A	9: 99,579,410	V153M	probably damaging	Het
Ddx4	A	G	13: 112,621,276	Y290H	probably benign	Het
Dgkb	T	A	12: 38,190,108	S461R	possibly damaging	Het
Dnajc28	T	C	16: 91,616,312	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dock3	C	A	9: 106,941,326	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,931,418	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,383,994	R295K	probably benign	Het
Foxo1	T	C	3: 52,345,912	S499P	probably benign	Het
Heatr5a	T	C	12: 51,893,745	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,406,188	I552S	probably benign	Het
Imp4	T	A	1: 34,443,847	I173N	probably damaging	Het
Itgal	A	G	7: 127,306,701	I352V	possibly damaging	Het
Kcnh6	G	A	11: 106,033,817	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Kcnip3	G	T	2: 127,465,061	A173D	probably benign	Het
Kir3dl1	A	G	X: 136,525,035	R53G	probably benign	Het
Klhl31	A	G	9: 77,650,158	D52G	possibly damaging	Het
Klk1b21	T	C	7: 44,104,439	I49T	possibly damaging	Het
Lama2	T	A	10: 26,992,936	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,491,537	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mpdz	A	G	4: 81,383,391	S266P	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mroh7	T	C	4: 106,720,927	N185D	probably benign	Het
Mybphl	A	G	3: 108,365,001	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,262,749	D937G	probably benign	Het
Myo18b	A	G	5: 112,782,673	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,112,006	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,820,460	N58K	probably benign	Het
Olfr1066	T	C	2: 86,456,214	Y19C	possibly damaging	Het
Olfr1278	A	G	2: 111,293,179	T304A	probably benign	Het
Olfr1330	A	T	4: 118,893,874	R264W	probably damaging	Het
Olfr583	G	A	7: 103,052,137	V280I	probably benign	Het
Olfr659	T	C	7: 104,670,860	F53L	probably benign	Het
Ovch2	A	T	7: 107,784,575	M521K	probably damaging	Het
P2ry13	T	C	3: 59,210,028	M110V	probably damaging	Het
P2ry14	T	C	3: 59,115,571	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,497,683	H177L	probably damaging	Het
Phf8	T	C	X: 151,572,601	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,657,453	S230A	possibly damaging	Het
Plch2	T	C	4: 154,993,004	E423G	probably benign	Het
Rad9b	T	C	5: 122,351,342	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,113	I286F	probably damaging	Het
Rtel1	T	A	2: 181,354,368	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,673,636	K325E	possibly damaging	Het
Spag17	C	A	3: 100,061,866		probably null	Het
Spg11	A	T	2: 122,108,307	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,897,682	V130A	probably damaging	Het
Taar8b	T	C	10: 24,091,372	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,803,225	C109S	probably benign	Het
Tlr5	T	A	1: 182,975,035	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,959,008	C833F	possibly damaging	Het
Vash2	T	C	1: 190,950,213	N347D	probably damaging	Het
Vcp	G	A	4: 42,980,833	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,586,662	E82G	probably damaging	Het
Vps13c	T	C	9: 67,920,947	V1461A	possibly damaging	Het
Zfp616	T	C	11: 74,085,463	Y853H	possibly damaging	Het

Other mutations in Olfr164

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Olfr164	APN	16	19286700	missense	probably benign	0.01
IGL01569:Olfr164	APN	16	19286660	missense	probably benign	0.28
IGL01619:Olfr164	APN	16	19286159	missense	probably damaging	1.00
IGL02101:Olfr164	APN	16	19286613	missense	probably benign
IGL02201:Olfr164	APN	16	19286462	missense	probably benign	0.03
IGL02730:Olfr164	APN	16	19286682	missense	probably benign	0.00
IGL03228:Olfr164	APN	16	19286390	missense	probably damaging	1.00
R1566:Olfr164	UTSW	16	19286327	missense	possibly damaging	0.76
R1817:Olfr164	UTSW	16	19285877	missense	probably damaging	1.00
R1870:Olfr164	UTSW	16	19286607	missense	probably damaging	1.00
R1918:Olfr164	UTSW	16	19286302	missense	probably benign	0.03
R2202:Olfr164	UTSW	16	19286297	missense	probably benign	0.03
R3792:Olfr164	UTSW	16	19285946	missense	possibly damaging	0.54
R4285:Olfr164	UTSW	16	19285964	missense	probably damaging	1.00
R4961:Olfr164	UTSW	16	19285976	missense	probably damaging	1.00
R5022:Olfr164	UTSW	16	19286059	missense	probably damaging	1.00
R5432:Olfr164	UTSW	16	19286089	missense	probably benign	0.06
R5827:Olfr164	UTSW	16	19286432	missense	probably benign	0.24
R6154:Olfr164	UTSW	16	19286431	missense	probably damaging	0.99
R6188:Olfr164	UTSW	16	19286557	missense	probably damaging	1.00
R6367:Olfr164	UTSW	16	19286072	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTACATAACGGTCATAAGCCATTG -3'
(R):5'- CTGTCTCCTCAGTGAACATGC -3'

Sequencing Primer
(F):5'- CCATGGAGATGGACTTGT -3'
(R):5'- TCCTCAGTGAACATGCTCATGATAC -3'

Posted On

2014-10-16