Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Olfr342'

82918

Institutional Source

Beutler Lab

Gene Symbol

Olfr342

Ensembl Gene

ENSMUSG00000111869

Gene Name

olfactory receptor 342

Synonyms

MOR136-4, GA_x6K02T2NLDC-33222024-33222962

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36524998-36530790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36528008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 199 (I199V)

Ref Sequence

ENSEMBL: ENSMUSP00000149751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074192] [ENSMUST00000216275]

AlphaFold

Q8VGK7

Predicted Effect

probably benign
Transcript: ENSMUST00000074192
AA Change: I199V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: I199V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.7e-56	PFAM
Pfam:7tm_1	41	290	2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213794

Predicted Effect

probably benign
Transcript: ENSMUST00000216275
AA Change: I199V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1832

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Asic5	C	T	3: 82,008,448		probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Cep250	A	G	2: 155,964,289		probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Dnah9	A	T	11: 66,005,837		probably null	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm12500	T	C	3: 108,086,476		probably null	Het
Gm6327	T	C	16: 12,761,113		noncoding transcript	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	T	C	5: 31,257,918		probably benign	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lgals8	A	T	13: 12,451,395		probably benign	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,083,800		probably benign	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Naa25	T	C	5: 121,438,716		probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734		probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Skint1	T	G	4: 112,028,215		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spag7	A	G	11: 70,669,182		probably benign	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Usp24	A	G	4: 106,413,678		probably null	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	Het

Other mutations in Olfr342

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Olfr342	APN	2	36527993	missense	probably benign	0.22
IGL01372:Olfr342	APN	2	36527451	missense	probably benign	0.00
IGL01747:Olfr342	APN	2	36527832	missense	probably damaging	1.00
IGL01836:Olfr342	APN	2	36527825	nonsense	probably null
IGL02409:Olfr342	APN	2	36528153	missense	probably damaging	1.00
IGL02578:Olfr342	APN	2	36528144	missense	probably damaging	1.00
IGL03344:Olfr342	APN	2	36528128	missense	probably damaging	1.00
IGL03396:Olfr342	APN	2	36527680	missense	probably benign	0.00
R0086:Olfr342	UTSW	2	36527450	missense	possibly damaging	0.69
R0427:Olfr342	UTSW	2	36527982	missense	probably damaging	1.00
R0973:Olfr342	UTSW	2	36528008	missense	probably benign	0.13
R0974:Olfr342	UTSW	2	36528008	missense	probably benign	0.13
R2183:Olfr342	UTSW	2	36527711	nonsense	probably null
R2437:Olfr342	UTSW	2	36528246	missense	probably damaging	1.00
R4060:Olfr342	UTSW	2	36527414	start codon destroyed	probably null	0.01
R4982:Olfr342	UTSW	2	36527397	critical splice acceptor site	probably null
R5070:Olfr342	UTSW	2	36527766	missense	probably damaging	1.00
R6244:Olfr342	UTSW	2	36528341	missense	probably benign	0.00
R8350:Olfr342	UTSW	2	36528164	missense	probably damaging	1.00
R8690:Olfr342	UTSW	2	36528195	missense	probably benign	0.22
R9105:Olfr342	UTSW	2	36528282	missense	probably damaging	1.00
R9224:Olfr342	UTSW	2	36527826	missense	probably benign	0.00
R9249:Olfr342	UTSW	2	36527547	missense	probably damaging	1.00
R9274:Olfr342	UTSW	2	36527547	missense	probably damaging	1.00
R9465:Olfr342	UTSW	2	36527886	missense	probably benign	0.02
R9644:Olfr342	UTSW	2	36527765	missense	probably damaging	1.00
R9700:Olfr342	UTSW	2	36528301	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGGTATGTAGCCATCTGCCATCCTC -3'
(R):5'- CCCATCATTGTGAGCACAGTCTCC -3'

Sequencing Primer
(F):5'- ATCATGAGTCAGAGCCTCTGTC -3'
(R):5'- TGAGCACAGTCTCCTACTGAG -3'

Posted On

2013-11-08