Mutagenetix > Incidental Mutation

Incidental Mutation 'R4290:Or14c46'

323003

Institutional Source

Beutler Lab

Gene Symbol

Or14c46

Ensembl Gene

ENSMUSG00000057540

Gene Name

olfactory receptor family 14 subfamily C member 46

Synonyms

GA_x6K02T2NHDJ-9838699-9839697, Olfr310, MOR227-6P

MMRRC Submission

041655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85917938-85919019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85918968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 10 (F10I)

Ref Sequence

ENSEMBL: ENSMUSP00000151989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081918] [ENSMUST00000217724]

AlphaFold

B2RVZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000081918
AA Change: F10I

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

SMART Domains

Protein: ENSMUSP00000080589
Gene: ENSMUSG00000057540
AA Change: F10I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	8.9e-46	PFAM
Pfam:7tm_1	39	289	1.8e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217724
AA Change: F10I

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

Meta Mutation Damage Score

0.4674

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (73/73)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,539,738 (GRCm39)	N1545S	probably benign	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Auts2	A	G	5: 131,503,809 (GRCm39)	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cfap221	A	G	1: 119,858,650 (GRCm39)	S728P	probably benign	Het
Chrna9	A	G	5: 66,134,481 (GRCm39)	K444R	probably benign	Het
Cox10	A	T	11: 63,855,081 (GRCm39)	V400E	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Ddr2	A	G	1: 169,818,178 (GRCm39)	V443A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
En1	C	A	1: 120,531,486 (GRCm39)	A242E	unknown	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237 (GRCm39)	Y40F	probably benign	Het
Ift80	A	G	3: 68,871,023 (GRCm39)	I191T	probably damaging	Het
Il19	T	A	1: 130,862,750 (GRCm39)	T58S	possibly damaging	Het
Itga2	G	A	13: 115,002,709 (GRCm39)	R594C	probably damaging	Het
Itga5	C	T	15: 103,260,684 (GRCm39)		probably null	Het
Kcna1	T	C	6: 126,618,838 (GRCm39)	D494G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,281,261 (GRCm39)		probably null	Het
Kmt5b	T	C	19: 3,852,193 (GRCm39)	Y125H	possibly damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Man1c1	T	A	4: 134,291,096 (GRCm39)	D600V	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mettl5	T	C	2: 69,711,176 (GRCm39)	N114S	probably benign	Het
Mindy2	T	A	9: 70,538,376 (GRCm39)	R320W	probably damaging	Het
Nrip1	A	G	16: 76,088,876 (GRCm39)	S894P	probably benign	Het
Nup210l	A	T	3: 90,114,633 (GRCm39)	H1736L	probably benign	Het
Or2aj4	A	T	16: 19,384,994 (GRCm39)	M213K	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or2z9	A	G	8: 72,853,612 (GRCm39)	T3A	probably benign	Het
Or4e1	T	C	14: 52,701,442 (GRCm39)	N8S	probably damaging	Het
Or6b6	A	C	7: 106,570,918 (GRCm39)	L211R	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,391,231 (GRCm39)		probably null	Het
Rps15a-ps1	A	G	10: 106,028,496 (GRCm39)		noncoding transcript	Het
Rps27a	A	G	11: 29,495,933 (GRCm39)	Y140H	probably benign	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Ttc19	A	G	11: 62,176,753 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,077 (GRCm39)	D332G	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,873,605 (GRCm39)	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,419,807 (GRCm39)		noncoding transcript	Het

Other mutations in Or14c46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Or14c46	APN	7	85,918,877 (GRCm39)	missense	probably damaging	1.00
IGL00917:Or14c46	APN	7	85,918,649 (GRCm39)	missense	probably damaging	1.00
IGL02145:Or14c46	APN	7	85,918,466 (GRCm39)	missense	probably damaging	1.00
IGL02639:Or14c46	APN	7	85,918,928 (GRCm39)	missense	probably damaging	0.99
R0139:Or14c46	UTSW	7	85,918,187 (GRCm39)	missense	probably benign	0.00
R0554:Or14c46	UTSW	7	85,918,865 (GRCm39)	missense	probably damaging	0.99
R1392:Or14c46	UTSW	7	85,918,063 (GRCm39)	missense	probably benign	0.01
R1392:Or14c46	UTSW	7	85,918,063 (GRCm39)	missense	probably benign	0.01
R1474:Or14c46	UTSW	7	85,918,270 (GRCm39)	missense	probably damaging	1.00
R2379:Or14c46	UTSW	7	85,918,857 (GRCm39)	missense	probably damaging	1.00
R3692:Or14c46	UTSW	7	85,918,703 (GRCm39)	missense	probably damaging	1.00
R4291:Or14c46	UTSW	7	85,918,968 (GRCm39)	missense	probably damaging	1.00
R4295:Or14c46	UTSW	7	85,918,968 (GRCm39)	missense	probably damaging	1.00
R5071:Or14c46	UTSW	7	85,918,799 (GRCm39)	missense	probably damaging	0.99
R5072:Or14c46	UTSW	7	85,918,799 (GRCm39)	missense	probably damaging	0.99
R5074:Or14c46	UTSW	7	85,918,799 (GRCm39)	missense	probably damaging	0.99
R5828:Or14c46	UTSW	7	85,918,728 (GRCm39)	missense	probably benign	0.00
R6174:Or14c46	UTSW	7	85,918,009 (GRCm39)	missense	probably benign
R6207:Or14c46	UTSW	7	85,918,968 (GRCm39)	missense	probably damaging	1.00
R6493:Or14c46	UTSW	7	85,918,090 (GRCm39)	missense	probably benign	0.21
R7068:Or14c46	UTSW	7	85,918,745 (GRCm39)	missense	probably damaging	1.00
R7196:Or14c46	UTSW	7	85,918,649 (GRCm39)	missense	probably damaging	1.00
R7694:Or14c46	UTSW	7	85,918,983 (GRCm39)	missense	probably damaging	1.00
R7794:Or14c46	UTSW	7	85,918,341 (GRCm39)	missense	probably damaging	0.99
R9315:Or14c46	UTSW	7	85,918,495 (GRCm39)	nonsense	probably null
Z1176:Or14c46	UTSW	7	85,918,155 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTAAAATGGACAGATTCCTGAGG -3'
(R):5'- ACTGGACAGATAGGTATAACTCTGTG -3'

Sequencing Primer
(F):5'- TTCCTGAGGAAGAAGTACATGG -3'
(R):5'- ATTAAGTTATTCCTTGTCC -3'

Posted On

2015-06-20