Mutagenetix > Incidental Mutations

Incidental Mutation 'R1515:Olfr512'

168224

Institutional Source

Beutler Lab

Gene Symbol

Olfr512

Ensembl Gene

ENSMUSG00000056946

Gene Name

olfactory receptor 512

Synonyms

MOR268-3, GA_x6K02T2PBJ9-11043421-11044365

MMRRC Submission

039562-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108713320-108714375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108713941 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 184 (V184A)

Ref Sequence

ENSEMBL: ENSMUSP00000147972 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074730
AA Change: V196A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074291
Gene: ENSMUSG00000056946
AA Change: V196A

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: V184A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	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
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
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'- ACCTCTGTTTCAGCACAGTTATCACAC -3'
(R):5'- GACATCAGTTTCTTGGTATCCGGTGAG -3'

Sequencing Primer
(F):5'- ACCTAAAATGCTTGTGGTCCTG -3'
(R):5'- TATACTGGCTGTGCCATAGAAG -3'

Posted On

2014-04-13