Mutagenetix > Incidental Mutations

Incidental Mutation 'R4709:Olfr975'

355491

Institutional Source

Beutler Lab

Gene Symbol

Olfr975

Ensembl Gene

ENSMUSG00000043331

Gene Name

olfactory receptor 975

Synonyms

MOR224-2, GA_x6K02T2PVTD-33651220-33650288

MMRRC Submission

042018-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39948131-39952046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39949869 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 301 (L301M)

Ref Sequence

ENSEMBL: ENSMUSP00000150664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054067] [ENSMUST00000169307] [ENSMUST00000213171] [ENSMUST00000213246] [ENSMUST00000216647] [ENSMUST00000217630]

Predicted Effect

probably damaging
Transcript: ENSMUST00000054067
AA Change: L301M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: L301M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.9e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	249	1.8e-7	PFAM
Pfam:7tm_1	39	286	3.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169307

SMART Domains

Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	318	1.5e-48	PFAM
Pfam:7TM_GPCR_Srsx	47	271	1.1e-5	PFAM
Pfam:7tm_1	53	300	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213171

Predicted Effect

probably benign
Transcript: ENSMUST00000213246

Predicted Effect

probably damaging
Transcript: ENSMUST00000216647
AA Change: L301M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000217630

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

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
4930430F08Rik	T	C	10: 100,578,381	I139V	probably benign	Het
Abcf1	G	A	17: 35,960,177	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,563,586	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,579,691	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,536,770		probably null	Het
Bpifb6	T	A	2: 153,908,516	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,490,027	V77A	possibly damaging	Het
Cers2	A	G	3: 95,320,223	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,844,138	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,023,891	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,710,506		probably null	Het
Dhodh	T	C	8: 109,601,538		probably null	Het
Dnah11	T	A	12: 118,018,760	Y2558F	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
En1	A	T	1: 120,607,143	Y387F	unknown	Het
Ephb2	C	A	4: 136,696,052	C305F	probably damaging	Het
Fryl	A	G	5: 73,080,972	V1477A	probably benign	Het
Gimap3	A	T	6: 48,765,393	L201Q	probably benign	Het
Gm10801	T	G	2: 98,663,901		probably null	Het
Grhl1	A	G	12: 24,586,133	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,388,903	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,469,015	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,404,734	T280A	probably benign	Het
Gzmd	T	C	14: 56,130,241	I192V	probably null	Het
Hectd1	A	G	12: 51,787,912	V855A	possibly damaging	Het
Hey1	A	G	3: 8,665,903		probably benign	Het
Hpx	A	G	7: 105,600,036	S19P	probably benign	Het
Incenp	G	A	19: 9,876,600	R696W	unknown	Het
Itgam	T	C	7: 128,101,537	V493A	probably damaging	Het
Ldlrad3	A	G	2: 102,069,998	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700	E208*	probably null	Het
Myh9	A	T	15: 77,787,517	I458N	probably damaging	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Nectin3	T	A	16: 46,463,943	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,083,427	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,065,425	H108Q	probably benign	Het
Olfr1499	T	A	19: 13,815,450	I47F	possibly damaging	Het
Olfr183	A	T	16: 59,000,095	T137S	probably benign	Het
Olfr316	T	C	11: 58,758,187	V174A	possibly damaging	Het
Olfr459	G	T	6: 41,771,508	Q264K	probably benign	Het
Olfr521	A	T	7: 99,767,782	I207F	probably damaging	Het
Parp6	T	C	9: 59,641,769	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,437,495	T565A	probably benign	Het
Pclo	A	G	5: 14,778,558	N4676D	unknown	Het
Pdlim1	T	A	19: 40,222,736	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,493,908	T46M	probably damaging	Het
Plscr2	A	G	9: 92,291,014	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,334,751	D924G	possibly damaging	Het
Postn	T	A	3: 54,384,610		probably benign	Het
Ptpn23	A	G	9: 110,388,856	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,811,584	R456Q	probably benign	Het
Rbm43	A	T	2: 51,929,716	V46E	probably damaging	Het
Rtn4r	A	G	16: 18,151,182	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,716,998	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,957,578	R198S	possibly damaging	Het
Scube3	G	A	17: 28,167,192		probably null	Het
Slc45a1	G	A	4: 150,638,240	P396S	probably benign	Het
Slc4a10	A	G	2: 62,257,517	D418G	probably null	Het
Smarcad1	A	G	6: 65,075,115	T411A	probably benign	Het
Smtn	G	A	11: 3,524,663	S716F	probably damaging	Het
Stag1	G	T	9: 100,738,039	R65L	probably damaging	Het
Stat1	A	T	1: 52,126,521	D92V	probably damaging	Het
Ttn	A	G	2: 76,752,084	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,660,181	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,610,860	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,053,965	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,582,826	F333L	probably benign	Het
Ypel5	G	A	17: 72,848,731	R98H	probably benign	Het
Zfp719	C	T	7: 43,590,232	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,205,071	S176G	probably benign	Het

Other mutations in Olfr975

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Olfr975	APN	9	39949988	missense	probably benign	0.01
IGL01537:Olfr975	APN	9	39950625	missense	probably benign	0.00
IGL01963:Olfr975	APN	9	39950240	missense	probably damaging	1.00
IGL02400:Olfr975	APN	9	39950339	missense	probably benign
IGL03115:Olfr975	APN	9	39950744	missense	probably damaging	0.98
IGL03226:Olfr975	APN	9	39950423	splice site	probably null
R0088:Olfr975	UTSW	9	39950375	missense	probably benign	0.03
R0212:Olfr975	UTSW	9	39949940	missense	probably benign	0.44
R1668:Olfr975	UTSW	9	39950169	missense	possibly damaging	0.94
R1878:Olfr975	UTSW	9	39950757	missense	probably benign	0.35
R2225:Olfr975	UTSW	9	39950537	missense	possibly damaging	0.84
R2291:Olfr975	UTSW	9	39950334	missense	probably benign	0.19
R2420:Olfr975	UTSW	9	39950528	missense	possibly damaging	0.47
R2421:Olfr975	UTSW	9	39950528	missense	possibly damaging	0.47
R2422:Olfr975	UTSW	9	39950528	missense	possibly damaging	0.47
R2425:Olfr975	UTSW	9	39949841	missense	probably null	0.25
R2918:Olfr975	UTSW	9	39950364	missense	probably benign
R4536:Olfr975	UTSW	9	39950435	missense	probably damaging	1.00
R4831:Olfr975	UTSW	9	39950112	missense	probably benign	0.01
R4921:Olfr975	UTSW	9	39950225	missense	probably damaging	0.98
R5113:Olfr975	UTSW	9	39949925	missense	probably damaging	0.99
R5141:Olfr975	UTSW	9	39949874	missense	probably benign	0.07
R5195:Olfr975	UTSW	9	39950679	missense	probably benign
R5213:Olfr975	UTSW	9	39950093	missense	probably damaging	0.99
R5568:Olfr975	UTSW	9	39950687	missense	probably benign	0.05
R6993:Olfr975	UTSW	9	39950637	missense	probably benign
R7080:Olfr975	UTSW	9	39950148	missense	probably damaging	1.00
R7436:Olfr975	UTSW	9	39950053	nonsense	probably null
R8178:Olfr975	UTSW	9	39950412	missense	probably benign	0.05
R8179:Olfr975	UTSW	9	39950412	missense	probably benign	0.05
R8382:Olfr975	UTSW	9	39950159	missense	probably benign	0.21
R8402:Olfr975	UTSW	9	39950417	missense	probably benign	0.39
R8511:Olfr975	UTSW	9	39950159	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TAGCAGCGTCGTTCTTCCTG -3'
(R):5'- TGCAGTGCCCACTTGACATC -3'

Sequencing Primer
(F):5'- TCTTCCTGGCCAGTTGAGCG -3'
(R):5'- AGTGCCCACTTGACATCCATTC -3'

Posted On

2015-10-21