Mutagenetix > Incidental Mutation

Incidental Mutation 'R8207:Or4n4'

635976

Institutional Source

Beutler Lab

Gene Symbol

Or4n4

Ensembl Gene

ENSMUSG00000091873

Gene Name

olfactory receptor family 4 subfamily N member 4

Synonyms

GA_x6K02T2PMLR-5975274-5974348, Olfr732, MOR241-1

MMRRC Submission

067630-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R8207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50518685-50519728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50519036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 225 (V225I)

Ref Sequence

ENSEMBL: ENSMUSP00000071195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071208]

AlphaFold

Q8VFT5

Predicted Effect

probably benign
Transcript: ENSMUST00000071208
AA Change: V225I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071195
Gene: ENSMUSG00000091873
AA Change: V225I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	7.4e-45	PFAM
Pfam:7tm_1	41	288	4.5e-21	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,552,491 (GRCm39)	M150I	possibly damaging	Het
Arhgef11	A	G	3: 87,606,082 (GRCm39)	N279S	possibly damaging	Het
Arid3a	T	C	10: 79,786,760 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,646,446 (GRCm39)	T1840A	possibly damaging	Het
Ccdc14	T	A	16: 34,525,413 (GRCm39)	N235K	possibly damaging	Het
Cdh20	T	C	1: 109,922,076 (GRCm39)	V56A	probably damaging	Het
Clec16a	G	A	16: 10,512,574 (GRCm39)	R837H	probably damaging	Het
Clec16a	A	G	16: 10,445,312 (GRCm39)	N518S	probably benign	Het
Cog7	T	C	7: 121,576,515 (GRCm39)	D137G	possibly damaging	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Efcab8	C	G	2: 153,631,145 (GRCm39)	L192V	probably damaging	Het
Farp2	A	G	1: 93,548,965 (GRCm39)	R1024G	probably benign	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmo1	T	A	1: 162,677,676 (GRCm39)	T147S	probably benign	Het
Fryl	A	C	5: 73,257,843 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,770,122 (GRCm39)	I305L	probably benign	Het
Guca2a	A	G	4: 119,494,951 (GRCm39)	N2D	unknown	Het
Iqcd	C	T	5: 120,740,514 (GRCm39)	R282W	probably damaging	Het
Lamc1	A	C	1: 153,126,268 (GRCm39)	C475G	probably damaging	Het
Map3k5	AAAAGAAAAAGA	AA	10: 19,986,612 (GRCm39)		probably null	Het
Med13	A	T	11: 86,194,375 (GRCm39)	D789E	probably damaging	Het
Mn1	A	G	5: 111,569,651 (GRCm39)	Y1207C	probably damaging	Het
Mroh2b	A	G	15: 4,967,892 (GRCm39)	D977G	possibly damaging	Het
Mrpl53	A	T	6: 83,086,169 (GRCm39)	N26I	probably damaging	Het
Nell1	A	T	7: 49,869,760 (GRCm39)		probably null	Het
Ogdh	T	G	11: 6,299,329 (GRCm39)	F743V	probably benign	Het
Or4d10b	A	T	19: 12,036,222 (GRCm39)	M298K	possibly damaging	Het
Or6c3	A	G	10: 129,308,953 (GRCm39)	T131A	probably benign	Het
Plscr1l1	T	A	9: 92,233,061 (GRCm39)	F61L	probably benign	Het
Pmvk	A	G	3: 89,375,899 (GRCm39)	E174G	probably benign	Het
Pou6f2	T	C	13: 18,414,158 (GRCm39)	N206D		Het
Prelid3a	A	T	18: 67,606,018 (GRCm39)	S42C	probably benign	Het
Riok1	T	A	13: 38,236,296 (GRCm39)	H347Q	probably damaging	Het
Ryr1	A	G	7: 28,789,650 (GRCm39)	L1488P	probably damaging	Het
Shkbp1	A	G	7: 27,052,109 (GRCm39)	V158A	probably benign	Het
Slc9c1	A	G	16: 45,360,076 (GRCm39)	I43M	possibly damaging	Het
Smarca2	A	G	19: 26,654,080 (GRCm39)	N755S	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfb2m	G	A	1: 179,373,668 (GRCm39)	P10L	probably benign	Het
Trim30c	T	C	7: 104,032,703 (GRCm39)	M252V	probably benign	Het
Ttll1	A	G	15: 83,384,279 (GRCm39)	L116P	probably damaging	Het
Tubd1	C	T	11: 86,440,248 (GRCm39)	H91Y	possibly damaging	Het
Vgll4	A	G	6: 114,839,786 (GRCm39)	S175P	probably damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Vmn2r80	C	T	10: 79,030,150 (GRCm39)	Q659*	probably null	Het
Zfp382	A	G	7: 29,833,840 (GRCm39)	D497G	possibly damaging	Het
Zfp41	A	G	15: 75,490,384 (GRCm39)	E112G	probably damaging	Het
Zfyve26	A	G	12: 79,307,605 (GRCm39)	S1754P	probably damaging	Het

Other mutations in Or4n4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Or4n4	APN	14	50,519,689 (GRCm39)	missense	probably damaging	0.99
IGL01801:Or4n4	APN	14	50,519,665 (GRCm39)	missense	probably benign
IGL01992:Or4n4	APN	14	50,518,798 (GRCm39)	missense	probably benign	0.09
IGL02137:Or4n4	APN	14	50,519,135 (GRCm39)	missense	probably benign	0.16
IGL02494:Or4n4	APN	14	50,519,683 (GRCm39)	missense	probably damaging	1.00
IGL02606:Or4n4	APN	14	50,519,530 (GRCm39)	missense	probably damaging	1.00
IGL02799:Or4n4	UTSW	14	50,518,801 (GRCm39)	missense	probably benign
PIT4142001:Or4n4	UTSW	14	50,518,784 (GRCm39)	makesense	probably null
R0570:Or4n4	UTSW	14	50,519,370 (GRCm39)	missense	probably benign	0.00
R1570:Or4n4	UTSW	14	50,518,981 (GRCm39)	missense	probably damaging	1.00
R1860:Or4n4	UTSW	14	50,518,848 (GRCm39)	nonsense	probably null
R2313:Or4n4	UTSW	14	50,519,431 (GRCm39)	missense	probably damaging	1.00
R4594:Or4n4	UTSW	14	50,519,140 (GRCm39)	missense	probably benign	0.02
R6442:Or4n4	UTSW	14	50,518,826 (GRCm39)	missense	probably damaging	0.98
R6783:Or4n4	UTSW	14	50,519,644 (GRCm39)	missense	probably benign
R7334:Or4n4	UTSW	14	50,519,036 (GRCm39)	missense	probably benign	0.08
R7763:Or4n4	UTSW	14	50,518,945 (GRCm39)	missense	probably damaging	1.00
R8228:Or4n4	UTSW	14	50,518,997 (GRCm39)	missense	probably damaging	1.00
R8806:Or4n4	UTSW	14	50,519,236 (GRCm39)	missense	probably benign	0.04
R8809:Or4n4	UTSW	14	50,519,236 (GRCm39)	missense	probably benign	0.04
R8898:Or4n4	UTSW	14	50,518,952 (GRCm39)	missense	probably damaging	1.00
R8962:Or4n4	UTSW	14	50,518,816 (GRCm39)	missense	possibly damaging	0.95
R9800:Or4n4	UTSW	14	50,519,701 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTATAAATCACAGGATTCATCAGTGG -3'
(R):5'- CTGGCTTGGAGGATTTATTCAC -3'

Sequencing Primer
(F):5'- ACAGGATTCATCAGTGGAAATATTAC -3'
(R):5'- TGGAGGATTTATTCACTCCATTATTC -3'

Posted On

2020-07-13