Mutagenetix > Incidental Mutations

Incidental Mutation 'R7246:Olfr847'

563550

Institutional Source

Beutler Lab

Gene Symbol

Olfr847

Ensembl Gene

ENSMUSG00000059821

Gene Name

olfactory receptor 847

Synonyms

MOR149-2, GA_x6K02T2PVTD-13113073-13112135

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19373668-19378669 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 19375465 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 139 (Q139*)

Ref Sequence

ENSEMBL: ENSMUSP00000151112 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000079620
AA Change: Q139*

SMART Domains

Protein: ENSMUSP00000078568
Gene: ENSMUSG00000059821
AA Change: Q139*

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

probably null
Transcript: ENSMUST00000216839
AA Change: Q139*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,902	S318R	probably damaging	Het
Abce1	A	T	8: 79,703,069	N74K	probably damaging	Het
Akr1b7	T	A	6: 34,415,469	D72E	probably benign	Het
Amer3	T	A	1: 34,586,728	I16N	possibly damaging	Het
Atp6v0d1	T	C	8: 105,530,974	N108D	probably damaging	Het
Avpr1b	T	C	1: 131,600,270	V177A	probably damaging	Het
B020011L13Rik	A	T	1: 117,801,239	K159*	probably null	Het
Bpifb1	T	C	2: 154,207,092	L172P	probably damaging	Het
Brca1	G	A	11: 101,523,378	T1310I	probably benign	Het
C130074G19Rik	C	A	1: 184,882,969	R8L	probably damaging	Het
Ccdc178	T	C	18: 22,109,754	H268R	possibly damaging	Het
Cdc42ep5	A	G	7: 4,151,474	V105A	possibly damaging	Het
Cntn4	T	C	6: 106,506,219	L245P	probably damaging	Het
Crtac1	T	C	19: 42,287,926	E521G	probably benign	Het
Cts7	T	A	13: 61,355,580	N190I	probably damaging	Het
Cul7	A	G	17: 46,662,067	E1368G	probably benign	Het
Dpp10	G	A	1: 123,334,377	P759S	probably damaging	Het
Etf1	A	G	18: 34,931,911	S11P	unknown	Het
Exd2	G	T	12: 80,480,535	L167F	probably damaging	Het
Exoc8	T	A	8: 124,896,417	R404*	probably null	Het
Fat2	T	C	11: 55,296,382	T1213A	probably benign	Het
Fgfr2	T	C	7: 130,242,406			Het
Gm4756	A	T	12: 72,619,492	M89K	possibly damaging	Het
Gtf3c1	T	A	7: 125,669,094			Het
Id2	T	A	12: 25,095,821	I64F	probably damaging	Het
Idh3a	G	T	9: 54,592,472	A75S	probably damaging	Het
Itgb8	C	G	12: 119,168,050	G620A	probably damaging	Het
Itih5	T	A	2: 10,187,062		probably null	Het
Lamtor5	A	T	3: 107,282,020	D124V	probably damaging	Het
Mast4	T	C	13: 102,794,003	E439G	probably damaging	Het
Meltf	T	G	16: 31,894,862	L641R	probably damaging	Het
Mesd	G	T	7: 83,892,212		probably benign	Het
Nfia	C	T	4: 98,065,342	P439L	probably damaging	Het
Nptx1	A	T	11: 119,544,590		probably null	Het
Olfr1086	A	G	2: 86,677,289	F15L	probably benign	Het
Olfr531	T	A	7: 140,400,148	R299S	probably benign	Het
Olfr98	A	T	17: 37,263,014	C217S	probably benign	Het
Pdss2	T	A	10: 43,372,176	H225Q	probably benign	Het
Pik3r5	C	A	11: 68,492,943	S529R	probably benign	Het
Plxna2	T	C	1: 194,644,282	S175P	possibly damaging	Het
Pom121l12	T	A	11: 14,599,551	W86R	probably benign	Het
Ppid	C	T	3: 79,591,433		probably benign	Het
Pramel7	T	A	2: 87,492,165	D85V	probably damaging	Het
Prune2	C	T	19: 17,121,368	T1412I	probably damaging	Het
Ptprd	T	C	4: 76,128,676	Y204C	probably damaging	Het
Rasgrp1	G	A	2: 117,338,354	R48*	probably null	Het
Rbks	A	G	5: 31,647,783	S246P	possibly damaging	Het
Rnf113a2	G	T	12: 84,417,677	M114I	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,579,922		probably benign	Het
Scara3	A	G	14: 65,931,644	S175P	probably damaging	Het
Slc4a4	T	A	5: 89,122,403	L261Q	probably damaging	Het
Sparcl1	T	C	5: 104,085,157	I593V	probably benign	Het
Suclg1	C	T	6: 73,276,713	H115Y	unknown	Het
Syde2	T	A	3: 145,988,755	C253S	probably benign	Het
Tecrl	A	T	5: 83,279,335	I322N	probably damaging	Het
Tesmin	C	T	19: 3,406,965	A428V	probably damaging	Het
Thbd	T	A	2: 148,406,485	T488S	probably benign	Het
Tln2	A	T	9: 67,262,979	V876E	probably damaging	Het
Ttc30a2	A	G	2: 75,977,679	L163P	probably damaging	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Unc13b	T	A	4: 43,172,910	I1246K	unknown	Het
Usp47	T	A	7: 112,115,909			Het
Vmn1r192	C	T	13: 22,187,774	R92Q	probably damaging	Het
Vmn2r111	T	C	17: 22,548,714	T601A	probably damaging	Het
Vmn2r51	A	G	7: 10,102,501	F118L	probably benign	Het
Vmn2r74	T	A	7: 85,955,965	I492L	probably benign	Het
Vmn2r93	C	T	17: 18,325,750	T628I	possibly damaging	Het
Vps13d	C	T	4: 145,156,050	R991K		Het
Wdr5b	T	C	16: 36,041,936	S142P	probably damaging	Het
Zfp428	G	T	7: 24,515,644		probably null	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
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
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
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'- AAGGCTTTGTATCTTCCTCTCAGG -3'
(R):5'- CCACTGTCCCAAACATGTTGAAG -3'

Sequencing Primer
(F):5'- TTCCTCTCAGGGAAGAGATTTTC -3'
(R):5'- TGTTGAAGAACATCCACACACAGG -3'

Posted On

2019-06-26