Mutagenetix > Incidental Mutations

Incidental Mutation 'R5587:Olfr347'

438792

Institutional Source

Beutler Lab

Gene Symbol

Olfr347

Ensembl Gene

ENSMUSG00000111863

Gene Name

olfactory receptor 347

Synonyms

GA_x6K02T2NLDC-33428755-33429693, MOR136-9

MMRRC Submission

043141-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R5587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36731902-36737640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36734621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 100 (Q100L)

Ref Sequence

ENSEMBL: ENSMUSP00000151158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078761] [ENSMUST00000216882]

AlphaFold

Q8VGK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000078761
AA Change: Q100L

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

SMART Domains

Protein: ENSMUSP00000077819
Gene: ENSMUSG00000111863
AA Change: Q100L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.2e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.3e-5	PFAM
Pfam:7tm_1	41	290	1.9e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216882
AA Change: Q100L

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

Meta Mutation Damage Score

0.2799

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,409	R120G	probably benign	Het
4930548H24Rik	G	T	5: 31,486,084	G53W	probably benign	Het
Acad11	A	G	9: 104,063,767	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646	V74E	possibly damaging	Het
Ccdc109b	A	C	3: 129,916,970	V271G	probably benign	Het
Ccdc78	C	A	17: 25,786,677	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514		probably null	Het
Cwf19l1	G	A	19: 44,120,877	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207	S61P	probably benign	Het
Fam71d	C	A	12: 78,715,075	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122		probably benign	Het
Hepacam	A	G	9: 37,384,684	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714	Y223C		Het
Lrit3	G	T	3: 129,788,898	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263	E1720G	probably benign	Het
Nktr	C	T	9: 121,748,489		probably benign	Het
Olfr1342	T	A	4: 118,689,870	D194V	probably damaging	Het
Olfr1502	G	A	19: 13,862,576	R261H	probably damaging	Het
Olfr617	T	A	7: 103,584,531	Y170N	probably benign	Het
Olfr979	A	T	9: 40,000,621	I202N	possibly damaging	Het
Olfr984	A	T	9: 40,101,244	L82Q	probably damaging	Het
Pcdha4	T	C	18: 36,954,822	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619		probably benign	Het
Rsf1	T	C	7: 97,662,121	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851		probably null	Het
Sis	A	G	3: 72,914,576	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625	H345R	unknown	Het
Suox	A	T	10: 128,671,825	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704		probably benign	Het
Tshz2	A	T	2: 169,884,342	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321	K487R	possibly damaging	Het

Other mutations in Olfr347

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02190:Olfr347	APN	2	36734579	missense	probably benign	0.03
IGL02417:Olfr347	APN	2	36734344	missense	probably benign	0.13
IGL02488:Olfr347	APN	2	36734350	missense	probably benign	0.36
IGL02878:Olfr347	APN	2	36734477	missense	probably damaging	1.00
IGL03354:Olfr347	APN	2	36734512	missense	possibly damaging	0.87
IGL03354:Olfr347	APN	2	36734513	missense	possibly damaging	0.89
PIT4403001:Olfr347	UTSW	2	36734918	missense	probably damaging	0.99
R0091:Olfr347	UTSW	2	36734905	missense	probably damaging	1.00
R0107:Olfr347	UTSW	2	36734718	nonsense	probably null
R0457:Olfr347	UTSW	2	36734533	missense	probably benign	0.18
R0563:Olfr347	UTSW	2	36735001	nonsense	probably null
R1205:Olfr347	UTSW	2	36734755	missense	probably benign	0.16
R1599:Olfr347	UTSW	2	36734989	missense	probably benign	0.01
R1668:Olfr347	UTSW	2	36735192	nonsense	probably null
R1845:Olfr347	UTSW	2	36734842	missense	probably damaging	0.99
R1856:Olfr347	UTSW	2	36734345	missense	probably benign
R2165:Olfr347	UTSW	2	36734701	missense	probably damaging	0.97
R4399:Olfr347	UTSW	2	36735230	missense	probably benign	0.00
R4657:Olfr347	UTSW	2	36734403	nonsense	probably null
R4684:Olfr347	UTSW	2	36734674	missense	probably damaging	1.00
R4767:Olfr347	UTSW	2	36734323	start codon destroyed	probably benign	0.02
R4988:Olfr347	UTSW	2	36734984	missense	possibly damaging	0.94
R5058:Olfr347	UTSW	2	36734999	missense	possibly damaging	0.52
R5103:Olfr347	UTSW	2	36734668	missense	probably benign	0.23
R5140:Olfr347	UTSW	2	36734498	missense	possibly damaging	0.59
R5591:Olfr347	UTSW	2	36735232	missense	probably benign
R6738:Olfr347	UTSW	2	36734432	missense	probably benign	0.26
R7097:Olfr347	UTSW	2	36734424	missense	probably benign	0.02
R7122:Olfr347	UTSW	2	36734424	missense	probably benign	0.02
R7330:Olfr347	UTSW	2	36735045	nonsense	probably null
R7485:Olfr347	UTSW	2	36734638	missense	probably benign	0.01
R7792:Olfr347	UTSW	2	36734330	missense	probably benign	0.01
R7812:Olfr347	UTSW	2	36734725	missense	probably benign
R8303:Olfr347	UTSW	2	36734455	missense	probably damaging	1.00
R8824:Olfr347	UTSW	2	36735191	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCAAGACCTGTATTCTGCC -3'
(R):5'- GCATTGGCAGTGGATAAGGTC -3'

Sequencing Primer
(F):5'- CATGTACCTGACAACTGTGCTGG -3'
(R):5'- GATAAGGTCCAGGACACAACTACTAG -3'

Posted On

2016-10-26