Mutagenetix > Incidental Mutations

Incidental Mutation 'R0006:Olfr646'

43641

Institutional Source

Beutler Lab

Gene Symbol

Olfr646

Ensembl Gene

ENSMUSG00000073931

Gene Name

olfactory receptor 646

Synonyms

GA_x6K02T2PBJ9-6841330-6842268, MOR33-2

MMRRC Submission

041980-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104104873-104109766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104106320 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 14 (I14V)

Ref Sequence

ENSEMBL: ENSMUSP00000149102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098182] [ENSMUST00000138055] [ENSMUST00000214099]

Predicted Effect

probably benign
Transcript: ENSMUST00000098182
AA Change: I14V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: I14V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	1.9e-109	PFAM
Pfam:7TM_GPCR_Srsx	32	225	6.1e-10	PFAM
Pfam:7tm_1	38	290	3.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214099
AA Change: I14V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214291

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,863,935		probably benign	Het
Aldh3a1	G	A	11: 61,217,101	V324M	probably damaging	Het
Als2cl	T	A	9: 110,894,618	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,602,898	F556L	probably damaging	Het
Atad2b	T	A	12: 4,942,030	S210T	possibly damaging	Het
Aurka	A	G	2: 172,359,753		probably null	Het
Boc	C	T	16: 44,496,449	V444I	probably benign	Het
Ccdc109b	A	C	3: 129,933,765		probably benign	Het
Cfap61	G	A	2: 146,077,312	V655I	probably benign	Het
Chd8	A	G	14: 52,235,293	I351T	possibly damaging	Het
Chid1	T	A	7: 141,496,426		probably benign	Het
Cyp3a41a	T	A	5: 145,704,796	H288L	probably benign	Het
Dnase2b	T	A	3: 146,582,489	I284F	probably damaging	Het
Dock2	A	G	11: 34,312,453		probably benign	Het
Dst	C	T	1: 34,228,918	T5325I	probably benign	Het
Erbb3	A	G	10: 128,573,410		probably null	Het
Fam129c	A	G	8: 71,605,044		probably benign	Het
Fancl	A	G	11: 26,469,695	N316S	possibly damaging	Het
Farsa	G	T	8: 84,861,305		probably benign	Het
Fibcd1	T	G	2: 31,838,587	D86A	probably damaging	Het
Gab1	A	T	8: 80,769,730	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,388,601	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155	T150K	possibly damaging	Het
Gm340	A	G	19: 41,584,899	T698A	probably benign	Het
Gnb3	G	A	6: 124,835,804		probably benign	Het
Hephl1	T	A	9: 15,076,764	T683S	probably benign	Het
Hmcn1	G	A	1: 150,808,676	P381L	probably damaging	Het
Hspa8	T	G	9: 40,804,629	N544K	probably benign	Het
Hspg2	C	T	4: 137,519,931	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,135,100		probably benign	Het
Jazf1	A	G	6: 52,894,086		probably benign	Het
Kntc1	T	A	5: 123,789,138	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,964,569	Y460F	possibly damaging	Het
Lyrm7	T	A	11: 54,848,597	T76S	probably benign	Het
Map1b	C	T	13: 99,435,302	V304M	probably damaging	Het
Muc13	T	C	16: 33,803,148	S271P	probably damaging	Het
Myo16	A	G	8: 10,475,988	K843E	probably damaging	Het
Nav2	A	G	7: 49,453,230	E531G	possibly damaging	Het
Nup188	T	C	2: 30,322,023	V553A	probably benign	Het
Olfr1	A	G	11: 73,395,488	F178S	probably damaging	Het
Olfr1348	A	G	7: 6,501,611	I205T	possibly damaging	Het
Olfr376	A	G	11: 73,375,588	M283V	possibly damaging	Het
Olfr877	T	A	9: 37,855,220	V134D	possibly damaging	Het
P4ha3	C	T	7: 100,318,948	R378*	probably null	Het
Rap1gds1	G	T	3: 138,983,871		probably null	Het
Rbfox1	T	A	16: 7,330,420	S244R	probably benign	Het
Rpp40	G	A	13: 35,896,735	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,909,148	C148R	probably damaging	Het
Skint5	T	C	4: 113,893,862		probably benign	Het
Sptbn1	A	G	11: 30,123,855	S1405P	probably damaging	Het
Tex35	T	C	1: 157,099,744	K154E	possibly damaging	Het
Thada	T	C	17: 84,226,040	N1661S	probably benign	Het
Tle4	A	G	19: 14,466,714		probably benign	Het
Tnxb	T	C	17: 34,682,292	S1027P	probably benign	Het
Tpm3	T	A	3: 90,087,661		probably benign	Het
Ubr4	T	C	4: 139,431,649	F2438L	probably benign	Het
Uggt2	A	T	14: 119,049,663	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,432,305	H205Q	probably damaging	Het
Wbp2	T	C	11: 116,079,788		probably null	Het
Xirp1	T	C	9: 120,017,454	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,319,702		probably null	Het
Zfp687	A	G	3: 95,011,456	I335T	probably damaging	Het
Zfpm1	A	G	8: 122,334,488	Y264C	probably damaging	Het

Other mutations in Olfr646

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Olfr646	APN	7	104106633	missense	probably damaging	1.00
IGL02454:Olfr646	APN	7	104106612	missense	probably damaging	0.96
IGL02588:Olfr646	APN	7	104107053	missense	possibly damaging	0.94
IGL02961:Olfr646	APN	7	104107150	nonsense	probably null
IGL03092:Olfr646	APN	7	104106647	missense	probably damaging	0.99
PIT4402001:Olfr646	UTSW	7	104106450	missense	probably damaging	1.00
R0109:Olfr646	UTSW	7	104106605	missense	probably damaging	1.00
R0109:Olfr646	UTSW	7	104106605	missense	probably damaging	1.00
R0601:Olfr646	UTSW	7	104107142	missense	possibly damaging	0.83
R0732:Olfr646	UTSW	7	104106294	missense	probably damaging	1.00
R1320:Olfr646	UTSW	7	104106480	missense	probably damaging	1.00
R1468:Olfr646	UTSW	7	104106689	missense	possibly damaging	0.82
R1468:Olfr646	UTSW	7	104106689	missense	possibly damaging	0.82
R1513:Olfr646	UTSW	7	104106464	missense	probably benign	0.02
R5486:Olfr646	UTSW	7	104106498	missense	probably damaging	0.99
R6110:Olfr646	UTSW	7	104106572	missense	probably damaging	1.00
R6497:Olfr646	UTSW	7	104107215	intron	probably benign
R6856:Olfr646	UTSW	7	104106791	missense	probably benign	0.00
R7766:Olfr646	UTSW	7	104106994	nonsense	probably null
R7789:Olfr646	UTSW	7	104106988	missense	probably damaging	0.99
R7844:Olfr646	UTSW	7	104106483	missense	probably damaging	1.00
R7927:Olfr646	UTSW	7	104106483	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGGCCCCTTGAAACTTCCCTG -3'
(R):5'- AAAACATCTGGGCGAGGCATCCAC -3'

Sequencing Primer
(F):5'- CCTCTAGATGGTATGCAGAGC -3'
(R):5'- GCCAACATTTTAGGTACAGTGG -3'

Posted On

2013-05-29