Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Olfr1306'

218570

Institutional Source

Beutler Lab

Gene Symbol

Olfr1306

Ensembl Gene

ENSMUSG00000096566

Gene Name

olfactory receptor 1306

Synonyms

GA_x6K02T2Q125-72954873-72953935, MOR245-15

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

111911264-111916271 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111912673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 86 (F86I)

Ref Sequence

ENSEMBL: ENSMUSP00000151142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099607] [ENSMUST00000214844]

AlphaFold

A2BFL7

Predicted Effect

probably benign
Transcript: ENSMUST00000099607
AA Change: F86I

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097202
Gene: ENSMUSG00000096566
AA Change: F86I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	4.7e-43	PFAM
Pfam:7tm_1	41	287	9.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214844
AA Change: F86I

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,044,626	V1134E	possibly damaging	Het
Adar	A	G	3: 89,749,823		probably benign	Het
Adgrl2	A	T	3: 148,837,679	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,248,350		probably benign	Het
Atp2a3	T	C	11: 72,981,885	I753T	probably damaging	Het
Bace2	G	A	16: 97,436,749	V467M	possibly damaging	Het
Ccser2	A	G	14: 36,918,591	C11R	possibly damaging	Het
Cd2ap	T	A	17: 42,845,392	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 127,194,836	E94K	probably damaging	Het
Chrna3	C	A	9: 55,015,172	A451S	probably damaging	Het
Cmya5	C	A	13: 93,092,791	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,000,550	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,487,991	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,855,544	P96L	probably damaging	Het
Ddr1	G	T	17: 35,689,669	S368*	probably null	Het
E2f1	T	C	2: 154,564,109	K115E	probably damaging	Het
Erlec1	A	T	11: 30,935,073		probably benign	Het
Fus	T	A	7: 127,972,776		probably benign	Het
Gml	G	A	15: 74,813,860	T92I	probably damaging	Het
Herc1	T	C	9: 66,501,192	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,198,841	S5P	probably benign	Het
Itgam	T	C	7: 128,116,218	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,236,260	N178I	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,543,457	T997I	possibly damaging	Het
Maml1	G	T	11: 50,258,058	Q952K	probably benign	Het
Map2	A	G	1: 66,413,202	E499G	probably damaging	Het
Map4k4	A	T	1: 40,003,815	H118L	probably damaging	Het
Myzap	T	C	9: 71,515,144	D382G	probably damaging	Het
Naip5	T	C	13: 100,223,199	T510A	probably benign	Het
Nek6	G	C	2: 38,558,904	G95R	possibly damaging	Het
Nphp3	T	C	9: 104,036,282		probably null	Het
Nr1d2	T	C	14: 18,215,086	S309G	probably benign	Het
Nrcam	A	T	12: 44,564,322	I570F	probably benign	Het
Oas1d	T	C	5: 120,919,986	I331T	probably benign	Het
Olfr65	T	C	7: 103,907,255	V272A	probably benign	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pex5l	A	T	3: 32,952,616	W535R	probably damaging	Het
Pisd	C	T	5: 32,774,437	R202H	probably benign	Het
Plxna2	A	G	1: 194,649,475	N403S	probably benign	Het
Prdm12	A	G	2: 31,643,912	I180M	probably benign	Het
Prpf6	A	G	2: 181,631,974	T304A	probably benign	Het
Ptprm	G	A	17: 67,191,341	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,224,727	I223N	probably damaging	Het
Pygb	G	A	2: 150,815,134		probably null	Het
Qrsl1	A	G	10: 43,896,001		probably benign	Het
Rad51ap2	T	C	12: 11,458,817		probably null	Het
Ralbp1	C	T	17: 65,852,753	R505H	probably benign	Het
Rimbp3	T	C	16: 17,212,737	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,178,542	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,104,773		probably benign	Het
Tcp1	T	C	17: 12,923,244	I375T	probably damaging	Het
Tiparp	T	C	3: 65,553,165	I525T	probably benign	Het
Tjp2	A	G	19: 24,131,316	L144P	probably benign	Het
Tssk2	A	G	16: 17,899,066	D111G	probably benign	Het
Ttn	T	C	2: 76,945,479	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,677,867	D381E	probably benign	Het
Vsig10	C	T	5: 117,343,846	T367M	probably damaging	Het
Wnt11	T	C	7: 98,846,528	C80R	probably damaging	Het
Zar1	T	A	5: 72,580,300		probably null	Het
Zfp52	A	T	17: 21,561,846	H652L	probably damaging	Het
Zpr1	T	A	9: 46,275,449	L194Q	probably damaging	Het

Other mutations in Olfr1306

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Olfr1306	APN	2	111912036	missense	possibly damaging	0.95
IGL01310:Olfr1306	APN	2	111912307	missense	probably benign	0.34
IGL01893:Olfr1306	APN	2	111912244	missense	possibly damaging	0.65
IGL02433:Olfr1306	APN	2	111912417	missense	probably damaging	1.00
IGL03302:Olfr1306	APN	2	111912822	missense	possibly damaging	0.61
R0544:Olfr1306	UTSW	2	111912560	nonsense	probably null
R1118:Olfr1306	UTSW	2	111912877	missense	probably benign	0.02
R1764:Olfr1306	UTSW	2	111912181	missense	possibly damaging	0.93
R2915:Olfr1306	UTSW	2	111912719	missense	probably damaging	1.00
R3976:Olfr1306	UTSW	2	111912606	missense	possibly damaging	0.84
R4855:Olfr1306	UTSW	2	111912099	missense	probably benign	0.41
R6475:Olfr1306	UTSW	2	111912859	nonsense	probably null
R6513:Olfr1306	UTSW	2	111912883	missense	possibly damaging	0.89
R6536:Olfr1306	UTSW	2	111912774	missense	possibly damaging	0.94
R6748:Olfr1306	UTSW	2	111912357	missense	possibly damaging	0.47
R6843:Olfr1306	UTSW	2	111912915	missense	probably damaging	1.00
R7006:Olfr1306	UTSW	2	111912256	missense	probably benign	0.16
R7169:Olfr1306	UTSW	2	111912594	missense	possibly damaging	0.95
R7230:Olfr1306	UTSW	2	111912561	missense	probably damaging	1.00
R7419:Olfr1306	UTSW	2	111912090	missense	probably damaging	1.00
R7448:Olfr1306	UTSW	2	111912292	missense	probably benign	0.00
R7753:Olfr1306	UTSW	2	111912582	missense	probably benign	0.06
R7761:Olfr1306	UTSW	2	111912877	missense	probably benign	0.02
R8330:Olfr1306	UTSW	2	111912379	missense	probably benign	0.00
R8497:Olfr1306	UTSW	2	111912619	missense	possibly damaging	0.82
R8942:Olfr1306	UTSW	2	111912862	missense	probably benign	0.05
R9603:Olfr1306	UTSW	2	111912783	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AGCTGTCCAACACATTTGGTCCAC -3'
(R):5'- GCAAGCATGATGGGAAACAGCCTC -3'

Sequencing Primer
(F):5'- CACATTTGGTCCACAGAATGG -3'
(R):5'- GGAAACAGCCTCATCGTGTTC -3'

Posted On

2014-08-18