Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Olfr512'

617826

Institutional Source

Beutler Lab

Gene Symbol

Olfr512

Ensembl Gene

ENSMUSG00000056946

Gene Name

olfactory receptor 512

Synonyms

MOR268-3, GA_x6K02T2PBJ9-11043421-11044365

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108713320-108714375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108713830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 159 (F159Y)

Ref Sequence

ENSEMBL: ENSMUSP00000074291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074730] [ENSMUST00000209620]

AlphaFold

Q8VFZ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074730
AA Change: F159Y

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074291
Gene: ENSMUSG00000056946
AA Change: F159Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	320	7.8e-62	PFAM
Pfam:7TM_GPCR_Srsx	47	317	2.5e-6	PFAM
Pfam:7tm_1	53	302	2.3e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209620
AA Change: F147Y

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asb3	A	T	11: 31,101,180	R506*	probably null	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
March6	A	G	15: 31,496,002		probably null	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Mylk2	T	C	2: 152,920,299	S497P	probably damaging	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Nudt9	C	T	5: 104,050,611		probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
Osbpl1a	T	G	18: 12,914,521	E125D	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,731,894	L480H	probably benign	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	probably damaging	Het

Other mutations in Olfr512

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01889:Olfr512	APN	7	108713882	missense	probably benign	0.02
IGL01912:Olfr512	APN	7	108714258	missense	possibly damaging	0.60
IGL02182:Olfr512	APN	7	108713868	missense	probably benign	0.02
IGL02409:Olfr512	APN	7	108714159	missense	probably benign	0.00
IGL02554:Olfr512	APN	7	108713742	missense	possibly damaging	0.94
IGL03210:Olfr512	APN	7	108713568	missense	probably damaging	1.00
IGL03373:Olfr512	APN	7	108714132	missense	probably damaging	1.00
IGL03400:Olfr512	APN	7	108713526	missense	probably benign	0.28
R0092:Olfr512	UTSW	7	108713824	missense	probably benign
R0741:Olfr512	UTSW	7	108713604	missense	probably benign	0.00
R1515:Olfr512	UTSW	7	108713941	missense	possibly damaging	0.94
R1982:Olfr512	UTSW	7	108713695	missense	probably damaging	1.00
R2176:Olfr512	UTSW	7	108714132	missense	probably damaging	1.00
R3967:Olfr512	UTSW	7	108713853	missense	probably benign
R4009:Olfr512	UTSW	7	108714159	missense	probably benign	0.00
R4010:Olfr512	UTSW	7	108714159	missense	probably benign	0.00
R4011:Olfr512	UTSW	7	108714159	missense	probably benign	0.00
R5095:Olfr512	UTSW	7	108713812	missense	probably damaging	1.00
R5271:Olfr512	UTSW	7	108714217	missense	probably damaging	1.00
R5864:Olfr512	UTSW	7	108713464	missense	probably benign
R5926:Olfr512	UTSW	7	108713587	missense	probably damaging	1.00
R6295:Olfr512	UTSW	7	108713638	missense	probably damaging	0.98
R6528:Olfr512	UTSW	7	108713431	missense	probably damaging	1.00
R6624:Olfr512	UTSW	7	108713536	missense	possibly damaging	0.50
R8443:Olfr512	UTSW	7	108714211	missense	possibly damaging	0.79
R8737:Olfr512	UTSW	7	108713757	missense	probably damaging	1.00
R9415:Olfr512	UTSW	7	108713835	missense	probably damaging	1.00
R9622:Olfr512	UTSW	7	108713470	missense	probably benign	0.30
X0023:Olfr512	UTSW	7	108714010	missense	possibly damaging	0.79
Z1088:Olfr512	UTSW	7	108713538	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CTGTTTCAGCACAGTTATCACAC -3'
(R):5'- TGAAAATGGTGCCCGTGAAG -3'

Sequencing Primer
(F):5'- CTTGTGGTCCTGACTAGTAAGAAAGC -3'
(R):5'- CCCGTGAAGGCATAGACTTC -3'

Posted On

2020-01-23