Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Olfr347'

673305

Institutional Source

Beutler Lab

Gene Symbol

Olfr347

Ensembl Gene

ENSMUSG00000111863

Gene Name

olfactory receptor 347

Synonyms

GA_x6K02T2NLDC-33428755-33429693, MOR136-9

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36731902-36737640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36735191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 290 (Y290F)

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: Y290F

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

SMART Domains

Protein: ENSMUSP00000077819
Gene: ENSMUSG00000111863
AA Change: Y290F

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: Y290F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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
Accsl	A	T	2: 93,862,850	V260D	probably damaging	Het
Adora2a	G	A	10: 75,326,179	A51T	probably damaging	Het
Afg1l	G	A	10: 42,438,387	P128S	possibly damaging	Het
Ago4	C	A	4: 126,507,184	V623L	probably benign	Het
Akap11	A	T	14: 78,516,347	N112K		Het
C1ra	A	T	6: 124,517,695	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,991,877	N724D	possibly damaging	Het
Cd248	A	G	19: 5,069,617	I498V	probably benign	Het
Clrn1	A	T	3: 58,884,893	S50T	probably benign	Het
Col7a1	A	G	9: 108,967,025	K1553R	unknown	Het
Cxcr6	A	C	9: 123,810,941	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,856,065	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,278,486		probably null	Het
Dnmbp	A	G	19: 43,849,837	V742A	probably benign	Het
Dusp16	A	T	6: 134,739,769	S192T	probably benign	Het
Ehbp1	A	T	11: 22,232,053	D87E	probably damaging	Het
Fgl1	A	G	8: 41,199,711	V150A	probably benign	Het
Flt3	T	C	5: 147,334,863	D873G	probably damaging	Het
Gart	T	C	16: 91,630,703	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,947,895	S85A	probably benign	Het
Golgb1	A	G	16: 36,915,689	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,352	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,443,469	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,557,761	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,308	E412*	probably null	Het
Krt4	T	A	15: 101,920,642	D312V		Het
Krtap26-1	A	T	16: 88,647,415	I106N	probably damaging	Het
Krtap26-1	T	C	16: 88,647,436	Y99C	probably damaging	Het
Lipn	T	C	19: 34,084,716	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,363,949	L4P	probably damaging	Het
Mrgpra9	A	T	7: 47,235,293	C209S	probably benign	Het
Myh7b	A	G	2: 155,630,381	N1291D	probably benign	Het
Myo5a	A	G	9: 75,167,046	T746A	probably damaging	Het
Myom2	A	C	8: 15,114,169	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,177,185	R338H	probably benign	Het
Ncor2	A	G	5: 125,118,757	F91L		Het
Neb	C	G	2: 52,216,911	A4407P	probably damaging	Het
Olfr1135	T	C	2: 87,671,960	M136V	possibly damaging	Het
Olfr1272	A	G	2: 90,296,012	I283T	probably damaging	Het
Olfr502	T	G	7: 108,523,143	Y269S	probably benign	Het
Olfr74	A	G	2: 87,974,003	F221L	probably benign	Het
Olfr819	C	T	10: 129,965,792	V297M	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Piwil4	C	A	9: 14,727,475	K298N	probably benign	Het
Prkcz	G	A	4: 155,344,828		probably benign	Het
Prkg2	G	A	5: 98,942,208	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,113,708	K89*	probably null	Het
Rapgef3	C	T	15: 97,766,908	A25T	probably benign	Het
Rreb1	C	T	13: 37,930,516	T617I	probably damaging	Het
Rsph1	A	C	17: 31,273,376	V72G	possibly damaging	Het
Shc2	A	G	10: 79,637,702	V50A	probably benign	Het
Slc38a9	G	A	13: 112,701,487	R262H	probably benign	Het
Slco6c1	T	A	1: 97,128,159	N6Y	possibly damaging	Het
Smarca5	A	G	8: 80,705,332	F886L	probably benign	Het
Tas1r2	A	G	4: 139,653,763		probably benign	Het
Tnrc6c	T	A	11: 117,739,854		probably benign	Het
Trim30b	T	A	7: 104,357,906		probably benign	Het
Trim55	T	C	3: 19,672,962	S398P	probably benign	Het
Ttc39c	T	A	18: 12,686,946		probably benign	Het
Ubxn10	A	G	4: 138,735,867		probably null	Het
Usf3	A	G	16: 44,215,613	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,299	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680		probably benign	Het
Zfp780b	T	C	7: 27,963,468	Y554C	probably benign	Het
Zhx2	C	T	15: 57,821,280	T15I	probably 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
R5587:Olfr347	UTSW	2	36734621	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGCAAAGCCTTGTCCACATG -3'
(R):5'- GAAATCCTATCAAGATGCTGAAGC -3'

Sequencing Primer
(F):5'- ATGTGGCTCTCACCTCTGTGTG -3'
(R):5'- CTGTGCAAGGATAACTGAGTGG -3'

Posted On

2021-07-15