Mutagenetix > Incidental Mutation

Incidental Mutation 'R8204:Or4f54'

635798

Institutional Source

Beutler Lab

Gene Symbol

Or4f54

Ensembl Gene

ENSMUSG00000068647

Gene Name

olfactory receptor family 4 subfamily F member 54

Synonyms

MOR245-11, Olfr1278, GA_x6K02T2Q125-72343713-72344654

MMRRC Submission

067627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111122615-111123556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111123485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 291 (R291G)

Ref Sequence

ENSEMBL: ENSMUSP00000087802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090330]

AlphaFold

Q8VF39

Predicted Effect

probably damaging
Transcript: ENSMUST00000090330
AA Change: R291G

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

SMART Domains

Protein: ENSMUSP00000087802
Gene: ENSMUSG00000068647
AA Change: R291G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	2.3e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	281	5.3e-6	PFAM
Pfam:7tm_1	41	288	1.1e-23	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (51/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,057,606 (GRCm39)	R731H	probably benign	Het
Arpp21	T	A	9: 111,965,638 (GRCm39)	Y408F	noncoding transcript	Het
Atr	T	C	9: 95,817,566 (GRCm39)	S2086P		Het
BC034090	C	A	1: 155,117,488 (GRCm39)	G210V	probably damaging	Het
Cdk6	A	G	5: 3,394,461 (GRCm39)	D32G	probably damaging	Het
Cep126	C	T	9: 8,120,781 (GRCm39)	E81K	probably damaging	Het
Cep20	T	C	16: 14,118,070 (GRCm39)	D150G	probably benign	Het
Clec4d	T	A	6: 123,242,323 (GRCm39)	V25D	probably damaging	Het
Cox8a	A	G	19: 7,192,845 (GRCm39)	I40T	probably benign	Het
Dlg5	A	G	14: 24,210,320 (GRCm39)	L792P	probably damaging	Het
Egln3	T	C	12: 54,250,010 (GRCm39)	Y113C	probably benign	Het
Exoc6b	C	T	6: 84,832,504 (GRCm39)	V397M	probably damaging	Het
Fat2	A	T	11: 55,175,436 (GRCm39)	L1759Q	probably benign	Het
Flg2	T	A	3: 93,110,074 (GRCm39)	S701T	unknown	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Git1	G	A	11: 77,396,161 (GRCm39)	D551N	probably benign	Het
Gpr137	C	T	19: 6,917,746 (GRCm39)	A21T	probably benign	Het
Grk3	A	G	5: 113,105,225 (GRCm39)	F171L	probably benign	Het
Hk1	A	G	10: 62,132,523 (GRCm39)	F175S	probably damaging	Het
Hoxc13	A	G	15: 102,835,795 (GRCm39)	N308D	probably damaging	Het
Itga9	A	G	9: 118,700,989 (GRCm39)	N924S	probably damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Klhl20	T	C	1: 160,934,414 (GRCm39)	M202V	probably benign	Het
Krtap19-9a	C	T	16: 88,720,996 (GRCm39)	G37D	noncoding transcript	Het
Lancl2	C	A	6: 57,714,701 (GRCm39)	P440Q	probably damaging	Het
Lrba	T	C	3: 86,222,710 (GRCm39)	I608T	possibly damaging	Het
Lrtm2	T	A	6: 119,294,369 (GRCm39)	E254V	probably benign	Het
Magi3	A	T	3: 103,958,502 (GRCm39)	C528S	probably benign	Het
Mast3	T	C	8: 71,240,925 (GRCm39)	D224G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myrip	G	A	9: 120,262,045 (GRCm39)		probably null	Het
Or5af2	A	C	11: 58,707,885 (GRCm39)	D17A	probably benign	Het
Plekhg6	C	T	6: 125,340,461 (GRCm39)	R633H	probably damaging	Het
Ppp1r7	T	C	1: 93,292,733 (GRCm39)	V344A	possibly damaging	Het
Ppp2r1a	A	G	17: 21,177,035 (GRCm39)	E191G	probably benign	Het
Prkag2	T	C	5: 25,074,125 (GRCm39)		probably null	Het
Pyroxd2	A	T	19: 42,737,827 (GRCm39)	V48E	probably benign	Het
Sacs	T	C	14: 61,450,397 (GRCm39)	S4148P	probably damaging	Het
Sh3tc2	T	C	18: 62,086,200 (GRCm39)	F5S	probably damaging	Het
Skint8	T	C	4: 111,796,090 (GRCm39)	S255P	probably benign	Het
Tacc2	A	T	7: 130,226,159 (GRCm39)	Q948L	probably damaging	Het
Tcerg1	T	A	18: 42,707,618 (GRCm39)	L1046Q	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfcp2	G	T	15: 100,420,329 (GRCm39)	Q169K	possibly damaging	Het
Tpp1	A	T	7: 105,399,522 (GRCm39)	L82Q	probably damaging	Het
Trpc7	A	G	13: 56,931,609 (GRCm39)	S697P	probably benign	Het
Vmn1r55	A	T	7: 5,150,285 (GRCm39)	I46N	possibly damaging	Het
Wdfy3	A	G	5: 102,000,451 (GRCm39)	V2973A	probably benign	Het
Xrcc1	T	C	7: 24,271,709 (GRCm39)	V564A	possibly damaging	Het

Other mutations in Or4f54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Or4f54	APN	2	111,122,864 (GRCm39)	missense	probably benign	0.11
IGL02301:Or4f54	APN	2	111,123,042 (GRCm39)	missense	probably benign	0.03
IGL02480:Or4f54	APN	2	111,122,858 (GRCm39)	missense	possibly damaging	0.66
IGL03056:Or4f54	APN	2	111,123,517 (GRCm39)	missense	possibly damaging	0.90
IGL03327:Or4f54	APN	2	111,122,807 (GRCm39)	missense	probably damaging	1.00
R0284:Or4f54	UTSW	2	111,122,931 (GRCm39)	missense	probably benign	0.34
R1614:Or4f54	UTSW	2	111,123,411 (GRCm39)	missense	probably damaging	0.97
R1698:Or4f54	UTSW	2	111,122,905 (GRCm39)	nonsense	probably null
R1733:Or4f54	UTSW	2	111,123,210 (GRCm39)	missense	probably damaging	0.98
R2265:Or4f54	UTSW	2	111,123,524 (GRCm39)	missense	probably benign	0.01
R4857:Or4f54	UTSW	2	111,123,488 (GRCm39)	missense	possibly damaging	0.95
R5061:Or4f54	UTSW	2	111,122,832 (GRCm39)	missense	probably damaging	1.00
R5208:Or4f54	UTSW	2	111,122,946 (GRCm39)	missense	probably damaging	1.00
R5940:Or4f54	UTSW	2	111,122,729 (GRCm39)	missense	possibly damaging	0.80
R6355:Or4f54	UTSW	2	111,123,230 (GRCm39)	missense	probably benign	0.05
R6820:Or4f54	UTSW	2	111,123,455 (GRCm39)	missense	probably damaging	1.00
R8858:Or4f54	UTSW	2	111,123,503 (GRCm39)	missense	probably benign	0.02
R8991:Or4f54	UTSW	2	111,123,348 (GRCm39)	missense	probably damaging	0.99
R9493:Or4f54	UTSW	2	111,122,736 (GRCm39)	missense	probably damaging	1.00
R9517:Or4f54	UTSW	2	111,123,033 (GRCm39)	missense	possibly damaging	0.81
R9656:Or4f54	UTSW	2	111,122,633 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAACAGTGGGTTTATTTCCATGGG -3'
(R):5'- CCGTATCTATAAGATGCTGGATATAGG -3'

Sequencing Primer
(F):5'- CATCATCAGGTGATTTGTCCAAGGC -3'
(R):5'- GCTGGATATAGGATAATAAACTGCC -3'

Posted On

2020-07-13