Mutagenetix > Incidental Mutations

Incidental Mutation 'R0267:Olfr429'

34973

Institutional Source

Beutler Lab

Gene Symbol

Olfr429

Ensembl Gene

ENSMUSG00000049528

Gene Name

olfactory receptor 429

Synonyms

MOR105-1, GA_x6K02T2P20D-21090094-21089156

MMRRC Submission

038493-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174084331-174091343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174089166 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 42 (N42S)

Ref Sequence

ENSEMBL: ENSMUSP00000149257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060693] [ENSMUST00000216346]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060693
AA Change: N42S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051323
Gene: ENSMUSG00000049528
AA Change: N42S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-65	PFAM
Pfam:7tm_1	41	290	1.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193320
AA Change: N42S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142323
Gene: ENSMUSG00000049528
AA Change: N42S

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:7tm_1	41	290	8.9e-31	PFAM
Pfam:7tm_4	139	283	6.7e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216346
AA Change: N42S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4853

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Olfr429

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Olfr429	APN	1	174089556	missense	probably damaging	1.00
IGL01868:Olfr429	APN	1	174089370	missense	possibly damaging	0.83
IGL01972:Olfr429	APN	1	174089421	missense	probably damaging	0.99
IGL02412:Olfr429	APN	1	174089243	missense	probably benign	0.00
IGL02628:Olfr429	APN	1	174089190	missense	probably benign
IGL02861:Olfr429	APN	1	174089036	utr 5 prime	probably benign
IGL03404:Olfr429	APN	1	174089898	missense	probably damaging	1.00
R0357:Olfr429	UTSW	1	174089109	missense	possibly damaging	0.71
R1499:Olfr429	UTSW	1	174089247	nonsense	probably null
R2051:Olfr429	UTSW	1	174089219	missense	possibly damaging	0.95
R4706:Olfr429	UTSW	1	174089702	missense	probably damaging	1.00
R4820:Olfr429	UTSW	1	174089176	missense	possibly damaging	0.95
R5439:Olfr429	UTSW	1	174089975	missense	probably benign	0.01
R5538:Olfr429	UTSW	1	174089978	makesense	probably null
R5907:Olfr429	UTSW	1	174089219	missense	probably benign	0.08
R6932:Olfr429	UTSW	1	174089750	missense	probably damaging	0.96
R7808:Olfr429	UTSW	1	174089851	nonsense	probably null
R8040:Olfr429	UTSW	1	174089157	missense	possibly damaging	0.68
R8467:Olfr429	UTSW	1	174089441	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTTGATTGGATGCCAATGGCTAC -3'
(R):5'- GGCCTGCAAATGGCTAAGTACCTG -3'

Sequencing Primer
(F):5'- GGATGCCAATGGCTACTTTCTC -3'
(R):5'- GGTAGCACTCAGTAGCTCCAAG -3'

Posted On

2013-05-09