Mutagenetix > Incidental Mutations

Incidental Mutation 'R6651:Olfr1507'

527806

Institutional Source

Beutler Lab

Gene Symbol

Olfr1507

Ensembl Gene

ENSMUSG00000059887

Gene Name

olfactory receptor 1507

Synonyms

MOR244-1, MOR28, GA_x6K02T2RJGY-491851-492792

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6651 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52488791-52495749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52490793 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 57 (R57Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073571] [ENSMUST00000205963] [ENSMUST00000206062] [ENSMUST00000206069] [ENSMUST00000206931]

Predicted Effect

probably benign
Transcript: ENSMUST00000073571
AA Change: R57Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073260
Gene: ENSMUSG00000059887
AA Change: R57Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	1.1e-47	PFAM
Pfam:7TM_GPCR_Srsx	38	305	3.6e-9	PFAM
Pfam:7tm_1	44	290	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205963
AA Change: R30Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000206062
AA Change: R57Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000206069

Predicted Effect

probably benign
Transcript: ENSMUST00000206931

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,498,072	S198A	possibly damaging	Het
Adamts15	A	T	9: 30,922,152	I29N	probably damaging	Het
Ankrd61	A	T	5: 143,893,620	I33N	probably damaging	Het
Arl6ip1	C	T	7: 118,129,485	R7H	probably benign	Het
Atp8a2	A	T	14: 59,774,021	D946E	probably benign	Het
Cc2d2b	A	T	19: 40,778,129	Q114L	probably damaging	Het
Ccdc163	T	A	4: 116,709,064	S16R	possibly damaging	Het
Chil6	C	T	3: 106,404,260	C68Y	probably damaging	Het
Cngb3	G	T	4: 19,375,231	R287L	probably benign	Het
Crem	C	T	18: 3,325,428	R16H	probably benign	Het
Cyp4f16	C	T	17: 32,544,144	R188C	probably benign	Het
Dap	A	G	15: 31,273,207	D46G	probably damaging	Het
Dnah7c	C	A	1: 46,649,340	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,649,351	S1894G	probably benign	Het
Enam	T	C	5: 88,502,917	Y687H	probably damaging	Het
Fzd4	A	T	7: 89,404,802	D39V	possibly damaging	Het
Ggta1	G	T	2: 35,402,294	H334N	probably benign	Het
Golga3	C	T	5: 110,218,130	R1254*	probably null	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Helz2	C	T	2: 181,239,557	W377*	probably null	Het
Hfm1	T	C	5: 106,847,687	D1286G	probably benign	Het
Hhatl	T	C	9: 121,784,702	R425G	probably damaging	Het
Hivep3	G	A	4: 120,122,949	R1728H	probably damaging	Het
Hyal1	A	G	9: 107,579,371	Y419C	probably damaging	Het
Ighv8-12	A	T	12: 115,648,024	D84E	possibly damaging	Het
Itln1	A	G	1: 171,518,372	F271L	possibly damaging	Het
Klra7	C	A	6: 130,229,945	L64F	probably benign	Het
Kmt2a	A	T	9: 44,828,811	C1878*	probably null	Het
Mia2	C	A	12: 59,154,362	Q825K	possibly damaging	Het
Mmp12	C	A	9: 7,355,345	P294Q	possibly damaging	Het
Nedd4	A	G	9: 72,731,271	N480S	possibly damaging	Het
Olfr1255	A	T	2: 89,816,896	E190V	probably benign	Het
Pax6	T	A	2: 105,685,830	M151K	probably benign	Het
Pgm1	A	G	5: 64,112,094	Y508C	probably benign	Het
Ptpn20	T	C	14: 33,632,940	F324S	probably damaging	Het
Recql	A	G	6: 142,364,434		probably null	Het
Rerg	A	G	6: 137,056,386	V97A	probably damaging	Het
Rffl	C	A	11: 82,812,779	C106F	probably damaging	Het
Scaper	T	G	9: 55,858,504	N499T	probably benign	Het
Sfxn3	G	A	19: 45,049,915		probably null	Het
Slc36a4	A	G	9: 15,723,578	S139G	probably benign	Het
Slco2b1	T	A	7: 99,667,169	M385L	probably benign	Het
Smg8	T	C	11: 87,086,546	T70A	probably benign	Het
Spats2l	A	T	1: 57,946,177	K463M	probably damaging	Het
Thbs4	T	C	13: 92,756,536	I715V	probably benign	Het
Tmem234	T	A	4: 129,607,471	M113K	possibly damaging	Het
Vmn2r10	T	C	5: 108,995,622	I821V	probably null	Het
Vmn2r116	A	T	17: 23,388,831	K458*	probably null	Het
Vmn2r76	T	A	7: 86,228,851	N446I	possibly damaging	Het
Vmn2r95	T	A	17: 18,440,360	Y345N	probably damaging	Het

Other mutations in Olfr1507

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Olfr1507	APN	14	52490748	missense	probably damaging	1.00
IGL01367:Olfr1507	APN	14	52490167	missense	probably benign	0.42
IGL01664:Olfr1507	APN	14	52490545	missense	probably benign	0.01
IGL02890:Olfr1507	APN	14	52490911	missense	probably benign
IGL03108:Olfr1507	APN	14	52490076	missense	probably damaging	0.97
IGL03184:Olfr1507	APN	14	52490923	missense	probably benign	0.20
R0563:Olfr1507	UTSW	14	52490257	nonsense	probably null
R1080:Olfr1507	UTSW	14	52490585	nonsense	probably null
R1558:Olfr1507	UTSW	14	52490146	missense	probably benign	0.26
R1653:Olfr1507	UTSW	14	52490772	missense	probably damaging	1.00
R1714:Olfr1507	UTSW	14	52490414	splice site	probably null
R1720:Olfr1507	UTSW	14	52490594	nonsense	probably null
R3430:Olfr1507	UTSW	14	52490425	missense	possibly damaging	0.92
R4995:Olfr1507	UTSW	14	52490531	nonsense	probably null
R5954:Olfr1507	UTSW	14	52490167	missense	probably benign	0.42
R6183:Olfr1507	UTSW	14	52490731	missense	probably benign	0.05
R6518:Olfr1507	UTSW	14	52490620	missense	probably damaging	1.00
R6652:Olfr1507	UTSW	14	52490793	missense	probably benign	0.07
R6653:Olfr1507	UTSW	14	52490793	missense	probably benign	0.07
R7385:Olfr1507	UTSW	14	52490181	missense	probably damaging	1.00
R7524:Olfr1507	UTSW	14	52490293	missense	probably damaging	1.00
X0025:Olfr1507	UTSW	14	52490466	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAAAGGTTTACAAATGGCCAC -3'
(R):5'- ATGGAAAAGGCTGTCCTCATC -3'

Sequencing Primer
(F):5'- GGTTTACAAATGGCCACATAGCGATC -3'
(R):5'- TCATCAACCAAACTTCAGTGATGTC -3'

Posted On

2018-07-23