Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:Olfr847'

368860

Institutional Source

Beutler Lab

Gene Symbol

Olfr847

Ensembl Gene

ENSMUSG00000059821

Gene Name

olfactory receptor 847

Synonyms

MOR149-2, GA_x6K02T2PVTD-13113073-13112135

MMRRC Submission

042420-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19373668-19378669 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19375545 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 112 (S112N)

Ref Sequence

ENSEMBL: ENSMUSP00000151112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079620] [ENSMUST00000216839]

Predicted Effect

probably benign
Transcript: ENSMUST00000079620
AA Change: S112N

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

SMART Domains

Protein: ENSMUSP00000078568
Gene: ENSMUSG00000059821
AA Change: S112N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-56	PFAM
Pfam:7tm_1	41	290	2.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212306
AA Change: S112N

Predicted Effect

probably benign
Transcript: ENSMUST00000216839
AA Change: S112N

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

Meta Mutation Damage Score

0.0872

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	Het

Other mutations in Olfr847

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Olfr847	APN	9	19375239	missense	probably damaging	1.00
IGL01293:Olfr847	APN	9	19375336	missense	probably benign	0.23
IGL01879:Olfr847	APN	9	19375407	nonsense	probably null
IGL03298:Olfr847	APN	9	19375062	missense	probably damaging	1.00
R1350:Olfr847	UTSW	9	19375414	missense	possibly damaging	0.94
R1400:Olfr847	UTSW	9	19375062	missense	probably damaging	0.98
R2894:Olfr847	UTSW	9	19375292	nonsense	probably null
R4468:Olfr847	UTSW	9	19375648	missense	probably benign	0.00
R4694:Olfr847	UTSW	9	19375398	missense	probably damaging	1.00
R4791:Olfr847	UTSW	9	19375809	missense	probably benign	0.28
R5517:Olfr847	UTSW	9	19375767	missense	probably damaging	1.00
R5599:Olfr847	UTSW	9	19375629	missense	possibly damaging	0.77
R5777:Olfr847	UTSW	9	19375718	missense	probably benign	0.29
R6505:Olfr847	UTSW	9	19374941	makesense	probably null
R6509:Olfr847	UTSW	9	19375143	missense	probably benign
R7246:Olfr847	UTSW	9	19375465	nonsense	probably null
R7659:Olfr847	UTSW	9	19375558	missense	probably benign	0.03
R7789:Olfr847	UTSW	9	19375065	missense	probably benign	0.33
R7969:Olfr847	UTSW	9	19375906	splice site	probably null
Z1088:Olfr847	UTSW	9	19375684	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAAAATGACAACCGCAG -3'
(R):5'- CTGGTTACAATTGTGGGAAATTTGC -3'

Sequencing Primer
(F):5'- GTATCATCAGACACTGTAATAAGCTG -3'
(R):5'- GGGAAATTTGCTCATCATCATTGCTG -3'

Posted On

2016-02-04