Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Olfr1507'

520917

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

044645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52488791-52495749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52490620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 115 (I115V)

Ref Sequence

ENSEMBL: ENSMUSP00000146152 (fasta)

Gene Model

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

AlphaFold

Q0VEP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000073571
AA Change: I115V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073260
Gene: ENSMUSG00000059887
AA Change: I115V

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

possibly damaging
Transcript: ENSMUST00000205963
AA Change: I88V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206062
AA Change: I115V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206069
AA Change: I32V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000206931

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

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
4921539E11Rik	T	C	4: 103,266,411	D88G	probably damaging	Het
Abcc12	A	G	8: 86,509,089			Het
Angptl6	T	C	9: 20,875,360	H330R	probably damaging	Het
Asxl3	T	A	18: 22,516,340	V462E	probably damaging	Het
Atp13a2	G	C	4: 141,000,854	R503P	possibly damaging	Het
C1ra	T	A	6: 124,521,575		probably null	Het
C2	T	A	17: 34,864,118	I426F	probably damaging	Het
C4b	A	T	17: 34,734,205	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,921,320	M134K	probably benign	Het
Cenpn	A	G	8: 116,937,165	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,173,303	I492K	probably benign	Het
Cog2	G	A	8: 124,527,103	W67*	probably null	Het
Col7a1	T	C	9: 108,955,527	F172L	unknown	Het
Dcaf1	T	C	9: 106,835,589	I112T	probably damaging	Het
Ddx4	T	C	13: 112,604,547	I518V	probably benign	Het
Dnah10	T	C	5: 124,758,355	L908P	probably damaging	Het
Dsg3	T	C	18: 20,533,422	Y563H	probably benign	Het
Gm12394	A	G	4: 42,791,750	I794T	probably benign	Het
Gm16686	A	C	4: 88,755,488		probably benign	Het
Gpr139	A	T	7: 119,144,511	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Ice1	A	T	13: 70,606,309	F553I	possibly damaging	Het
Igkv6-29	T	A	6: 70,138,513	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,875,775	N304S	probably benign	Het
Lmo1	A	C	7: 109,143,576	L39R	probably damaging	Het
Mcc	T	A	18: 44,661,811		probably benign	Het
Mindy3	T	C	2: 12,382,129	T74A	probably damaging	Het
Olfr71	A	G	4: 43,706,334	V78A	probably benign	Het
Olfr96	G	T	17: 37,225,268	A48S	probably benign	Het
Ormdl1	T	C	1: 53,308,957	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,150,514	*1064K	probably null	Het
Pias1	A	G	9: 62,951,860	L113P	probably damaging	Het
Piezo2	A	T	18: 63,106,271	I514N	probably damaging	Het
Prkd1	T	C	12: 50,425,495	T212A	probably benign	Het
Rnf219	A	T	14: 104,479,065	L624H	probably damaging	Het
Rsph10b	A	G	5: 143,963,873	Y151C	probably damaging	Het
Samhd1	G	A	2: 157,114,297	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,789,449	T291A	probably damaging	Het
Smim24	A	G	10: 81,393,861	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,644,570		probably benign	Het
Speer3	T	G	5: 13,795,448	I165S	possibly damaging	Het
Timm23	A	G	14: 32,201,637		probably null	Het
Tmem17	A	T	11: 22,517,427	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,629,609	C85*	probably null	Het
Try5	A	G	6: 41,314,679	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,621,228	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,429,412	D67E	probably benign	Het
Wars2	A	T	3: 99,216,800	M326L	probably benign	Het
Wdr70	A	T	15: 8,079,337	S108R	unknown	Het
Zfp677	A	G	17: 21,398,130	H483R	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
R6651:Olfr1507	UTSW	14	52490793	missense	probably benign	0.07
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
R8902:Olfr1507	UTSW	14	52490553	missense	probably benign	0.02
R9165:Olfr1507	UTSW	14	52490373	missense	possibly damaging	0.71
R9763:Olfr1507	UTSW	14	52490850	missense	probably damaging	1.00
X0025:Olfr1507	UTSW	14	52490466	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAGTAGGGCAGCTTGATGG -3'
(R):5'- TATGTCCTGACACTGGTTGGTAAC -3'

Sequencing Primer
(F):5'- CTTGATGGTGAGTGAGGTGAAAG -3'
(R):5'- TTGTCATAACAATCATACACGACC -3'

Posted On

2018-06-06