Mutagenetix > Incidental Mutation

Incidental Mutation 'R0483:Olfr119'

42160

Institutional Source

Beutler Lab

Gene Symbol

Olfr119

Ensembl Gene

ENSMUSG00000059964

Gene Name

olfactory receptor 119

Synonyms

MOR263-7, GA_x6K02T2PSCP-2159633-2160598

MMRRC Submission

038683-MU

Accession Numbers

Essential gene?

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

Stock #

R0483 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37696564-37702124 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37701297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 209 (A209V)

Ref Sequence

ENSEMBL: ENSMUSP00000150099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080483] [ENSMUST00000213732]

AlphaFold

Q7TRJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000080483
AA Change: A209V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000092919
Gene: ENSMUSG00000059964
AA Change: A209V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	5.6e-59	PFAM
Pfam:7TM_GPCR_Srsx	41	311	1.7e-5	PFAM
Pfam:7tm_1	47	296	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213732
AA Change: A209V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	G	A	10: 83,759,638		probably benign	Het
1700048O20Rik	A	T	9: 121,940,703		noncoding transcript	Het
2900011O08Rik	T	C	16: 14,095,939	*113R	probably null	Het
AA986860	A	G	1: 130,743,825	R595G	probably damaging	Het
Acrbp	C	A	6: 125,054,796	F353L	possibly damaging	Het
Adamts20	T	A	15: 94,353,571	Q445L	probably benign	Het
Adgrg5	A	G	8: 94,933,508	D26G	possibly damaging	Het
Atad2b	A	T	12: 4,945,035		probably benign	Het
Atg2a	G	T	19: 6,256,601	G1439C	probably damaging	Het
Atg2a	G	T	19: 6,256,602	G1439V	probably benign	Het
B3galt1	G	A	2: 68,118,588	V216I	probably benign	Het
C2cd2	A	G	16: 97,859,588		probably benign	Het
Cacna2d1	G	A	5: 16,359,027	V884M	probably damaging	Het
Cers5	C	A	15: 99,745,914	C22F	probably damaging	Het
Ces1d	C	A	8: 93,197,679	C14F	probably benign	Het
Cntn3	G	T	6: 102,203,966	P756Q	probably damaging	Het
Col4a1	T	C	8: 11,236,423		probably benign	Het
Col5a3	A	G	9: 20,782,481		probably null	Het
Cox5b	G	A	1: 36,692,555		probably null	Het
Cwc27	C	A	13: 104,811,216		probably null	Het
Cyp27b1	A	C	10: 127,050,157	M260L	probably benign	Het
D11Wsu47e	C	T	11: 113,689,195	T472I	possibly damaging	Het
Ddx19b	A	T	8: 111,008,678	N465K	probably benign	Het
Depdc1b	T	C	13: 108,373,848	V298A	probably benign	Het
Dnaaf1	A	G	8: 119,590,666	I311M	possibly damaging	Het
Dnah17	T	C	11: 118,047,124	N3372S	probably benign	Het
Dus4l	G	A	12: 31,641,657	T184I	possibly damaging	Het
Dzip3	T	C	16: 48,947,713	K453E	possibly damaging	Het
Fhod3	C	T	18: 24,709,616	T3M	probably damaging	Het
Galnt10	T	C	11: 57,781,222	L446P	probably damaging	Het
Gfod1	T	A	13: 43,200,536	D321V	possibly damaging	Het
Glt8d2	C	A	10: 82,662,153		probably benign	Het
Gm11115	A	G	5: 88,154,089	M4T	unknown	Het
Gm11568	G	A	11: 99,858,383	C138Y	unknown	Het
Gm9742	A	G	13: 8,035,016		noncoding transcript	Het
Gnrhr	G	T	5: 86,197,575	T84N	probably damaging	Het
Gpr176	C	A	2: 118,279,723	G352W	probably damaging	Het
Habp2	T	C	19: 56,316,432		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Inpp5j	C	G	11: 3,499,738	W681C	probably damaging	Het
Insl6	A	G	19: 29,321,568	M148T	probably benign	Het
Itgb1	T	G	8: 128,726,167	M771R	possibly damaging	Het
Kank1	G	T	19: 25,425,993		probably benign	Het
Kcnd3	T	C	3: 105,459,626	Y271H	probably damaging	Het
Kcnq4	C	A	4: 120,716,601	R221L	probably damaging	Het
Klk1b26	G	A	7: 44,016,348	V195I	probably benign	Het
Lactb	A	C	9: 66,970,863	V228G	possibly damaging	Het
Ldb3	T	C	14: 34,536,584	D649G	probably damaging	Het
Lilra6	T	A	7: 3,913,139	R240S	probably benign	Het
Lrp2	A	G	2: 69,507,801	Y1212H	probably damaging	Het
Mapk8ip1	A	T	2: 92,385,976		probably null	Het
Mctp1	C	T	13: 76,827,727	L483F	probably damaging	Het
Mmp16	T	C	4: 18,115,878		probably benign	Het
Mphosph9	A	T	5: 124,306,970	L360*	probably null	Het
Myh4	A	G	11: 67,252,297	E1017G	probably damaging	Het
Nell1	A	T	7: 50,230,180	M307L	probably benign	Het
Olfr1028	A	G	2: 85,951,243	Y60C	probably damaging	Het
Olfr1082	A	G	2: 86,594,408	V140A	probably benign	Het
Olfr959	A	C	9: 39,572,843	C139G	probably damaging	Het
Phc2	A	G	4: 128,723,307		probably benign	Het
Pp2d1	C	A	17: 53,507,971	C575F	probably benign	Het
Ptpra	T	A	2: 130,539,685	N364K	probably damaging	Het
R3hcc1l	A	G	19: 42,562,556		probably benign	Het
Rims1	A	G	1: 22,468,182		probably benign	Het
Shank3	G	A	15: 89,543,239		probably benign	Het
Sit1	T	A	4: 43,482,991	Q86L	possibly damaging	Het
Skint4	C	A	4: 112,117,939		probably benign	Het
Skint8	G	T	4: 111,938,823		probably benign	Het
Smim13	T	C	13: 41,272,710	I74T	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Speg	A	G	1: 75,385,032	E230G	possibly damaging	Het
Srpr	A	G	9: 35,215,995	T614A	possibly damaging	Het
Synpo2	T	C	3: 123,114,332	D445G	probably damaging	Het
Tas2r102	A	T	6: 132,762,365	I79F	probably damaging	Het
Thegl	A	G	5: 77,037,357		probably benign	Het
Tmc4	A	G	7: 3,667,610	L494P	probably damaging	Het
Togaram1	G	T	12: 65,007,031	V1412F	probably damaging	Het
Topors	T	C	4: 40,261,952	D444G	probably damaging	Het
Trappc8	T	A	18: 20,845,601	I813F	possibly damaging	Het
Trim26	T	C	17: 36,852,706		probably benign	Het
Unc13a	T	C	8: 71,644,913	D1171G	probably damaging	Het
Usp7	A	G	16: 8,699,262	V245A	probably damaging	Het
Vmn1r38	T	A	6: 66,776,995	T46S	probably benign	Het
Vmn2r76	T	C	7: 86,225,751	T673A	probably damaging	Het
Zcchc14	T	A	8: 121,628,649		probably benign	Het
Zfp451	T	A	1: 33,770,910		probably benign	Het

Other mutations in Olfr119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Olfr119	APN	17	37700992	missense	probably damaging	1.00
IGL03339:Olfr119	APN	17	37700791	missense	probably damaging	0.99
R0092:Olfr119	UTSW	17	37700805	missense	probably damaging	0.98
R0207:Olfr119	UTSW	17	37701058	nonsense	probably null
R0378:Olfr119	UTSW	17	37701041	missense	probably damaging	1.00
R0408:Olfr119	UTSW	17	37701299	missense	probably benign
R1595:Olfr119	UTSW	17	37701113	missense	probably benign	0.03
R1901:Olfr119	UTSW	17	37701421	missense	probably damaging	1.00
R1902:Olfr119	UTSW	17	37701421	missense	probably damaging	1.00
R2845:Olfr119	UTSW	17	37700823	missense	probably damaging	1.00
R2846:Olfr119	UTSW	17	37700823	missense	probably damaging	1.00
R4356:Olfr119	UTSW	17	37700899	missense	probably damaging	0.97
R4381:Olfr119	UTSW	17	37700899	missense	probably damaging	0.97
R6744:Olfr119	UTSW	17	37701445	nonsense	probably null
R7674:Olfr119	UTSW	17	37700682	missense	probably benign	0.03
R7677:Olfr119	UTSW	17	37701066	missense	probably damaging	1.00
R7994:Olfr119	UTSW	17	37701435	missense	probably damaging	0.99
R8305:Olfr119	UTSW	17	37701498	missense	probably benign	0.10
R8512:Olfr119	UTSW	17	37701180	missense	probably damaging	1.00
R9300:Olfr119	UTSW	17	37700924	missense	probably damaging	1.00
R9760:Olfr119	UTSW	17	37701543	missense	probably damaging	1.00
Z1177:Olfr119	UTSW	17	37701053	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGTCTCTCCTGGAGATTGGCTACAC -3'
(R):5'- GGGCCAAGAGTTTGTCCATTCCTG -3'

Sequencing Primer
(F):5'- ATGGCTTATGACCGCTGC -3'
(R):5'- CTTGGGCCTCAAGTAAGTAATAGATG -3'

Posted On

2013-05-23