Mutagenetix > Incidental Mutations

Incidental Mutation 'R6028:Olfr1079'

480151

Institutional Source

Beutler Lab

Gene Symbol

Olfr1079

Ensembl Gene

ENSMUSG00000075179

Gene Name

olfactory receptor 1079

Synonyms

MOR189-1, GA_x6K02T2Q125-48024195-48023254

MMRRC Submission

044200-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86536949-86542480 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86538769 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 49 (I49F)

Ref Sequence

ENSEMBL: ENSMUSP00000097467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099882] [ENSMUST00000111582] [ENSMUST00000216480]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099882
AA Change: I49F

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097467
Gene: ENSMUSG00000075179
AA Change: I49F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	175	1.2e-7	PFAM
Pfam:7tm_1	43	292	7.1e-32	PFAM
Pfam:7tm_4	141	285	1.3e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111582
AA Change: I47F

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107208
Gene: ENSMUSG00000075179
AA Change: I47F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	308	1.6e-48	PFAM
Pfam:7TM_GPCR_Srsx	37	175	1.2e-7	PFAM
Pfam:7tm_1	43	292	2.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216480
AA Change: I47F

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,479,569		probably null	Het
Acat1	A	T	9: 53,592,066	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,342,324	A924E	probably damaging	Het
Adck1	A	T	12: 88,402,132	M127L	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alad	G	T	4: 62,510,122	T305K	probably benign	Het
Ankrd33	T	C	15: 101,119,072	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,722,927	N281S	possibly damaging	Het
Arhgap30	A	G	1: 171,408,320	D754G	probably benign	Het
Asah2	T	C	19: 32,016,514	D438G	probably damaging	Het
Cachd1	C	A	4: 100,983,556	N905K	probably damaging	Het
Cdh23	G	T	10: 60,534,535	D160E	probably damaging	Het
Cntln	T	A	4: 84,971,173	S298T	probably benign	Het
Dnah5	T	A	15: 28,387,833	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,772,586	A347S	probably benign	Het
Eps8l2	T	C	7: 141,357,833	F422S	possibly damaging	Het
Esm1	A	G	13: 113,216,667	N161S	possibly damaging	Het
Fbxw10	C	T	11: 62,873,519	Q671*	probably null	Het
Fnbp4	C	A	2: 90,751,134	T177K	probably benign	Het
Gm11639	T	C	11: 104,769,655		probably null	Het
Gm6803	A	T	12: 88,018,361	D137E	possibly damaging	Het
Gpr137c	C	A	14: 45,277,481	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hk1	C	A	10: 62,353,058	K25N	probably null	Het
Klhl29	G	T	12: 5,090,995	Y616*	probably null	Het
Lman1l	A	G	9: 57,608,263	I443T	probably damaging	Het
Lmnb1	T	G	18: 56,743,276	Y485*	probably null	Het
Lrrc63	A	G	14: 75,086,174	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,784,852	N1686I	probably damaging	Het
Map9	T	A	3: 82,380,248		probably null	Het
Marco	T	A	1: 120,490,942	Q194L	probably damaging	Het
Mc3r	A	T	2: 172,249,209	D117V	probably damaging	Het
Meltf	T	A	16: 31,887,476	D259E	possibly damaging	Het
Mical1	A	T	10: 41,486,877	M973L	probably benign	Het
Mmp21	T	C	7: 133,678,714	T176A	probably benign	Het
Mterf1b	T	A	5: 4,197,666		probably null	Het
Muc16	G	A	9: 18,657,176	S1349F	unknown	Het
Nacc2	A	G	2: 26,061,578	V415A	probably damaging	Het
Ncl	A	G	1: 86,356,133	V322A	probably benign	Het
Neb	G	A	2: 52,193,231	T1639I	probably damaging	Het
Nfia	A	G	4: 98,111,251	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,558,337	T460I	probably benign	Het
Olfr938	T	A	9: 39,078,083	I221F	probably damaging	Het
Patl2	T	A	2: 122,126,137	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,309,090	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,836,267	H1929R	probably benign	Het
Plekhh3	A	T	11: 101,166,570	M287K	probably damaging	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Popdc3	A	G	10: 45,317,919	D272G	probably benign	Het
Prkar2b	A	T	12: 31,993,758	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,685,665	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,898,408	C197S	probably damaging	Het
Ptprf	A	T	4: 118,213,629	V1391D	probably benign	Het
Purb	A	G	11: 6,475,150	F246S	probably damaging	Het
Rgs8	C	A	1: 153,690,988	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,276,116	N545S	probably damaging	Het
Smpd2	A	G	10: 41,489,348	W51R	probably damaging	Het
Srgap1	T	C	10: 121,828,730	Q490R	probably null	Het
Strbp	G	A	2: 37,625,255	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,559,826	M145K	probably damaging	Het
Taf5l	A	C	8: 124,002,975		probably null	Het
Tas2r131	T	G	6: 132,957,676	I57L	probably benign	Het
Tcf25	A	G	8: 123,381,437	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,017,811	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,793,298	N130S	probably damaging	Het
Utrn	T	C	10: 12,654,716	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,275,277	T334S	probably benign	Het
Wnk2	G	T	13: 49,076,345	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,307,340	T947A	probably benign	Het
Zfhx3	C	T	8: 108,793,503	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549	S258P	probably damaging	Het
Zfp964	A	G	8: 69,663,913	T388A	unknown	Het

Other mutations in Olfr1079

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Olfr1079	APN	2	86538330	missense	probably benign	0.12
IGL02289:Olfr1079	APN	2	86538448	missense	probably benign	0.07
IGL02794:Olfr1079	APN	2	86538148	missense	possibly damaging	0.80
R1498:Olfr1079	UTSW	2	86538558	missense	probably benign	0.00
R1923:Olfr1079	UTSW	2	86538513	missense	probably damaging	1.00
R2195:Olfr1079	UTSW	2	86538903	missense	probably benign	0.05
R2211:Olfr1079	UTSW	2	86538513	missense	probably damaging	1.00
R2925:Olfr1079	UTSW	2	86538547	missense	probably damaging	1.00
R4370:Olfr1079	UTSW	2	86538420	missense	possibly damaging	0.78
R4430:Olfr1079	UTSW	2	86538387	missense	probably damaging	0.98
R4678:Olfr1079	UTSW	2	86538733	missense	possibly damaging	0.95
R4790:Olfr1079	UTSW	2	86538880	missense	possibly damaging	0.63
R4996:Olfr1079	UTSW	2	86538271	missense	probably benign	0.02
R5905:Olfr1079	UTSW	2	86538769	missense	possibly damaging	0.91
R5984:Olfr1079	UTSW	2	86538168	missense	probably damaging	1.00
R6878:Olfr1079	UTSW	2	86538765	missense	probably damaging	1.00
R7579:Olfr1079	UTSW	2	86538528	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATAGCCACATAGCGGTCGTAAG -3'
(R):5'- ACTGTGATACTCTACTCATGATAGG -3'

Sequencing Primer
(F):5'- GACATCACAGATAGAATGAACAGTTC -3'
(R):5'- GTTTTTGAATGAATGCAGATGGAGAG -3'

Posted On

2017-06-26