Mutagenetix > Incidental Mutations

Incidental Mutation 'R1819:Olfr671'

204702

Institutional Source

Beutler Lab

Gene Symbol

Olfr671

Ensembl Gene

ENSMUSG00000094531

Gene Name

olfactory receptor 671

Synonyms

GA_x6K02T2PBJ9-7604826-7603885, MOR32-12

MMRRC Submission

039847-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104972896-104979126 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104975398 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 196 (V196I)

Ref Sequence

ENSEMBL: ENSMUSP00000077774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078710] [ENSMUST00000210963] [ENSMUST00000217091]

Predicted Effect

probably benign
Transcript: ENSMUST00000078710
AA Change: V196I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531
AA Change: V196I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.4e-117	PFAM
Pfam:7TM_GPCR_Srsx	37	308	3.7e-7	PFAM
Pfam:7tm_1	43	293	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210963
AA Change: V200I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000217091
AA Change: V200I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.1286

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,981,056		probably null	Het
Abhd17a	T	C	10: 80,586,636	T71A	probably benign	Het
Acad11	G	A	9: 104,114,539		probably null	Het
Adgrf1	C	A	17: 43,310,033	T387K	probably benign	Het
Afdn	A	G	17: 13,850,848	T783A	probably damaging	Het
Akap13	T	A	7: 75,608,705	M359K	probably benign	Het
Asxl3	A	T	18: 22,522,376	N1148Y	probably damaging	Het
Atl1	T	C	12: 69,963,300	S547P	probably benign	Het
Bace1	A	T	9: 45,857,162	T252S	possibly damaging	Het
BC034090	A	G	1: 155,225,829	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,291,874	F778L	possibly damaging	Het
Capn2	T	A	1: 182,472,597	K609N	probably benign	Het
Capn8	T	A	1: 182,598,826	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Ccdc180	A	G	4: 45,926,195	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,282,478	Q385*	probably null	Het
Cdh10	G	T	15: 18,991,965	G437*	probably null	Het
Ceacam1	T	A	7: 25,463,860	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,731,267	T77A	probably damaging	Het
Cers4	T	A	8: 4,521,232	M267K	probably benign	Het
Csmd3	T	C	15: 47,753,735	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,297,739	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,315,636	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,432,507	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,400	L628*	probably null	Het
Dnah7a	A	C	1: 53,559,148	D1409E	probably benign	Het
Dus2	T	A	8: 106,051,848	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,298,013	D111G	probably damaging	Het
Erich4	C	T	7: 25,615,290	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 28,085,283	R256L	probably benign	Het
Fdxr	A	T	11: 115,276,104	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,415,889	A36S	probably benign	Het
Foxo3	A	T	10: 42,197,611	D84E	probably benign	Het
Gin1	A	G	1: 97,785,226		probably null	Het
Gli3	C	T	13: 15,725,792	Q1255*	probably null	Het
Gm4847	T	A	1: 166,638,219	H267L	probably damaging	Het
Gpr171	T	C	3: 59,097,920	I145V	probably benign	Het
Gpr68	T	A	12: 100,878,403	H294L	possibly damaging	Het
Gys2	T	C	6: 142,461,186	E148G	probably damaging	Het
Heatr5b	T	C	17: 78,791,511	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,686,523		probably benign	Het
Ift88	G	A	14: 57,455,519	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,311,593	S97T	probably damaging	Het
Il18rap	A	G	1: 40,531,527	I210V	probably benign	Het
Kcnj11	C	T	7: 46,099,156	G248S	probably benign	Het
Kif28	T	C	1: 179,705,754	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,496,028	Y205C	probably damaging	Het
Lima1	T	A	15: 99,819,936	H63L	probably benign	Het
Lonrf3	A	G	X: 36,358,708	I687V	probably damaging	Het
Lrba	A	G	3: 86,542,634	T2099A	possibly damaging	Het
Morn5	C	T	2: 36,052,975	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,438,700	R22H	probably benign	Het
Nr2e3	T	C	9: 59,943,437	I380V	probably damaging	Het
Oas1c	G	A	5: 120,808,735	A10V	possibly damaging	Het
Olfr395	T	C	11: 73,906,679	E271G	probably benign	Het
P3h3	T	C	6: 124,854,932	T297A	probably benign	Het
Pdpk1	T	C	17: 24,110,904	K53E	probably damaging	Het
Plec	C	T	15: 76,179,906	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,790,186	N1079K	probably benign	Het
Prr12	G	C	7: 45,048,697		probably benign	Het
Psip1	A	G	4: 83,458,163	S480P	probably benign	Het
Ptpre	A	G	7: 135,668,993		probably benign	Het
Pvalb	A	C	15: 78,202,584	V44G	probably damaging	Het
Rab3c	T	G	13: 110,084,135	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,826,914	K703R	possibly damaging	Het
Setd7	T	G	3: 51,542,639	H122P	probably benign	Het
Slc26a8	A	T	17: 28,684,834	F19I	probably benign	Het
Slc6a14	A	G	X: 21,741,047	D625G	probably benign	Het
Snx6	C	T	12: 54,783,474	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,687,722	F40L	possibly damaging	Het
Syt8	G	A	7: 142,438,234	G21R	possibly damaging	Het
Tagln	A	G	9: 45,930,840	F152L	probably benign	Het
Tcf12	G	A	9: 72,109,717	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,626,551	S1202N	probably benign	Het
Tekt2	T	C	4: 126,323,736	K179E	probably damaging	Het
Tekt4	G	T	17: 25,473,811		probably null	Het
Tmprss5	G	T	9: 49,107,164	R98L	probably benign	Het
Tns1	G	T	1: 73,916,476		probably benign	Het
Tpcn1	A	C	5: 120,536,227		probably null	Het
Ttc6	T	C	12: 57,694,500		probably null	Het
Ttf1	A	G	2: 29,074,784	N706S	possibly damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr17	A	T	8: 54,690,124	S140T	probably benign	Het
Wdr19	A	T	5: 65,212,891	I123F	possibly damaging	Het
Zer1	C	T	2: 30,110,218	A317T	probably benign	Het
Zfp474	A	G	18: 52,638,800	D175G	probably damaging	Het
Zfp598	T	C	17: 24,681,130		probably benign	Het
Zfp646	G	A	7: 127,883,120	G1490S	probably benign	Het
Zranb3	A	T	1: 128,017,556		probably null	Het

Other mutations in Olfr671

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Olfr671	APN	7	104975986	splice site	probably null
IGL02154:Olfr671	APN	7	104975981	start codon destroyed	probably null	0.14
IGL02308:Olfr671	APN	7	104975458	missense	possibly damaging	0.84
IGL02794:Olfr671	APN	7	104975389	missense	probably benign
R0919:Olfr671	UTSW	7	104975312	nonsense	probably null
R1972:Olfr671	UTSW	7	104975899	missense	possibly damaging	0.63
R2025:Olfr671	UTSW	7	104975244	missense	probably benign	0.01
R4910:Olfr671	UTSW	7	104975479	missense	possibly damaging	0.88
R5442:Olfr671	UTSW	7	104975228	missense	possibly damaging	0.80
R5554:Olfr671	UTSW	7	104975982	start codon destroyed	probably null	0.99
R5932:Olfr671	UTSW	7	104975655	missense	probably damaging	1.00
R6683:Olfr671	UTSW	7	104975968	missense	probably benign
R6962:Olfr671	UTSW	7	104975373	missense	probably benign	0.00
R7000:Olfr671	UTSW	7	104975131	missense	probably damaging	1.00
R7059:Olfr671	UTSW	7	104976017	splice site	probably null
R7276:Olfr671	UTSW	7	104975650	missense	possibly damaging	0.62
R7425:Olfr671	UTSW	7	104975061	nonsense	probably null
R7688:Olfr671	UTSW	7	104975125	missense	possibly damaging	0.60
R8043:Olfr671	UTSW	7	104975873	nonsense	probably null
R8074:Olfr671	UTSW	7	104975727	missense	probably damaging	1.00
R8432:Olfr671	UTSW	7	104975992	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCAAAACGATGTGTCAAG -3'
(R):5'- CATTGCCATTTGTAAGCCCC -3'

Sequencing Primer
(F):5'- CCAAAACGATGTGTCAAGAAGGAG -3'
(R):5'- TGTCATTCTCACCAACAAAGTCATTG -3'

Posted On

2014-06-23