Mutagenetix > Incidental Mutations

Incidental Mutation 'R1400:Olfr847'

160332

Institutional Source

Beutler Lab

Gene Symbol

Olfr847

Ensembl Gene

ENSMUSG00000059821

Gene Name

olfactory receptor 847

Synonyms

MOR149-2, GA_x6K02T2PVTD-13113073-13112135

MMRRC Submission

039462-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19373668-19378669 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19375062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 273 (V273A)

Ref Sequence

ENSEMBL: ENSMUSP00000151112 (fasta)

Gene Model

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

AlphaFold

Q8VFF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000079620
AA Change: V273A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078568
Gene: ENSMUSG00000059821
AA Change: V273A

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: V273A

Predicted Effect

probably damaging
Transcript: ENSMUST00000216839
AA Change: V273A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	T	9: 92,351,127	C25F	probably benign	Het
9130008F23Rik	T	C	17: 40,880,304	E78G	probably damaging	Het
Acsf2	T	C	11: 94,570,316	I345V	probably benign	Het
Akap11	T	A	14: 78,513,962	K328N	probably damaging	Het
Aoc1	T	A	6: 48,906,283	Y364*	probably null	Het
Aoc1	A	T	6: 48,906,711	Q507L	probably benign	Het
Atp6v1c2	T	C	12: 17,289,130	T207A	probably benign	Het
Atr	C	A	9: 95,862,848	Q73K	probably benign	Het
Cage1	A	G	13: 38,032,424	S17P	possibly damaging	Het
Cfap44	A	T	16: 44,421,212	I649F	probably benign	Het
Cops4	A	G	5: 100,533,546	K200R	probably damaging	Het
Crygd	A	G	1: 65,063,208	S32P	probably damaging	Het
Cyp3a11	A	G	5: 145,862,489	I296T	probably damaging	Het
Fads3	A	G	19: 10,056,300		probably null	Het
Fbn2	T	C	18: 58,080,193	E974G	possibly damaging	Het
Gcgr	A	G	11: 120,534,986	H45R	probably benign	Het
Gcn1l1	T	C	5: 115,614,161	I2112T	probably damaging	Het
Gm43302	A	T	5: 105,274,756	I470N	probably damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Krt13	C	A	11: 100,121,284	G71V	probably damaging	Het
Las1l	T	C	X: 95,946,900	T390A	possibly damaging	Het
Lifr	T	A	15: 7,190,865	V992E	probably benign	Het
Mbd5	T	C	2: 49,274,776		probably null	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Ndst3	A	G	3: 123,556,828	F636S	probably damaging	Het
Necab1	T	C	4: 14,975,185	D232G	possibly damaging	Het
Nlrp4e	A	T	7: 23,321,660	E524V	possibly damaging	Het
Nxf3	T	A	X: 136,076,045	T349S	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1013	T	C	2: 85,770,133	C111R	possibly damaging	Het
Olfr1259	T	A	2: 89,943,542	H191L	possibly damaging	Het
Olfr722	A	T	14: 49,895,691	I37K	possibly damaging	Het
Ppm1e	T	A	11: 87,231,766	N455I	probably damaging	Het
Prkag2	G	A	5: 24,873,918	T158I	probably damaging	Het
Ptpn18	T	C	1: 34,463,506		probably null	Het
Rai14	T	G	15: 10,571,548	K936N	probably damaging	Het
Rasgrf2	A	G	13: 91,887,689	L1077P	probably damaging	Het
Rgn	C	A	X: 20,550,457	Q27K	probably benign	Het
Ryr2	C	T	13: 11,595,076	S723N	probably benign	Het
Scamp1	A	G	13: 94,224,947	F142L	possibly damaging	Het
Selenon	A	G	4: 134,551,518	V67A	probably benign	Het
Slc5a5	T	C	8: 70,889,435	I292V	possibly damaging	Het
Smarca2	C	A	19: 26,676,740	T775K	probably damaging	Het
Stab1	C	T	14: 31,139,830	V2437I	possibly damaging	Het
Tas2r143	C	T	6: 42,400,383	A49V	probably benign	Het
Tlr7	T	A	X: 167,307,849	N214Y	probably damaging	Het
Unc13a	C	A	8: 71,651,221	D856Y	probably damaging	Het
Upp2	T	C	2: 58,790,106	Y263H	probably damaging	Het
Vill	T	C	9: 119,063,347	S349P	probably benign	Het
Zfp644	T	C	5: 106,637,470		probably null	Het
Zfp664	T	C	5: 124,886,153	C204R	unknown	Het
Zfp729b	A	G	13: 67,592,794	Y451H	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
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
R4794:Olfr847	UTSW	9	19375545	missense	probably benign	0.00
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
R7886:Olfr847	UTSW	9	19375906	splice site	probably null
R8948:Olfr847	UTSW	9	19374966	missense	probably benign	0.03
R9326:Olfr847	UTSW	9	19375050	missense	probably damaging	1.00
Z1088:Olfr847	UTSW	9	19375684	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGAACCTGACTTTGAACCAACACAT -3'
(R):5'- GCTTGCCTGTTCTGATACTCTCATCAAT -3'

Sequencing Primer
(F):5'- GGAAAACTCAAACATGCTTACTCATC -3'
(R):5'- GAATTCCAATCTCTGGAATCATTTTC -3'

Posted On

2014-03-14