Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02494:Or4n4'

295779

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4n4

Ensembl Gene

ENSMUSG00000091873

Gene Name

olfactory receptor family 4 subfamily N member 4

Synonyms

GA_x6K02T2PMLR-5975274-5974348, Olfr732, MOR241-1

Accession Numbers

Essential gene?

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

Stock #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

50518685-50519728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50519683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 9 (V9D)

Ref Sequence

ENSEMBL: ENSMUSP00000148984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071208] [ENSMUST00000213701]

AlphaFold

Q8VFT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071208
AA Change: V9D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071195
Gene: ENSMUSG00000091873
AA Change: V9D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213701
AA Change: V9D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138 (GRCm39)	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,198,697 (GRCm39)	R242G	probably benign	Het
Ash1l	T	A	3: 88,973,525 (GRCm39)	L2528*	probably null	Het
Astn2	T	A	4: 65,910,585 (GRCm39)	M468L	probably benign	Het
Bglap2	A	T	3: 88,285,243 (GRCm39)	C74*	probably null	Het
Cand1	A	G	10: 119,049,522 (GRCm39)	V408A	probably benign	Het
Ccdc14	A	G	16: 34,543,784 (GRCm39)	Y714C	probably damaging	Het
Ccdc88c	C	T	12: 100,911,734 (GRCm39)	G707D	probably benign	Het
Cdk13	G	A	13: 17,913,710 (GRCm39)	R890*	probably null	Het
Cep192	A	G	18: 67,937,453 (GRCm39)	E61G	probably benign	Het
Ctdspl	T	C	9: 118,866,484 (GRCm39)	L181P	probably damaging	Het
Dock7	C	T	4: 98,877,471 (GRCm39)	V442M	probably benign	Het
Dop1a	T	C	9: 86,408,871 (GRCm39)	V1860A	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fscn2	G	A	11: 120,253,228 (GRCm39)	V232M	probably benign	Het
Gemin5	A	T	11: 58,012,583 (GRCm39)	C1458S	probably benign	Het
Glrb	A	G	3: 80,752,539 (GRCm39)	V408A	probably benign	Het
Gtse1	C	T	15: 85,751,704 (GRCm39)	P299L	probably damaging	Het
Hcfc1r1	T	A	17: 23,893,559 (GRCm39)	M46K	probably damaging	Het
Hdc	A	G	2: 126,436,041 (GRCm39)	F610S	probably benign	Het
Hip1	A	T	5: 135,473,645 (GRCm39)	C224*	probably null	Het
Hsd17b10	G	T	X: 150,787,230 (GRCm39)	A241S	probably benign	Het
Igsf10	G	T	3: 59,235,427 (GRCm39)	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,960,233 (GRCm39)	Y514H	probably damaging	Het
Krt78	T	C	15: 101,862,486 (GRCm39)	I58M	probably benign	Het
Lcat	C	A	8: 106,668,571 (GRCm39)		probably benign	Het
Naca	G	A	10: 127,877,179 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,712,772 (GRCm39)	K2102E	probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or1e35	A	C	11: 73,797,550 (GRCm39)	I256S	possibly damaging	Het
Or4b1b	G	A	2: 90,112,295 (GRCm39)	S208F	probably benign	Het
Or7c19	C	A	8: 85,957,312 (GRCm39)	L63I	possibly damaging	Het
Patj	T	A	4: 98,592,224 (GRCm39)		probably benign	Het
Pcdhb17	G	A	18: 37,618,347 (GRCm39)	A46T	possibly damaging	Het
Phf8	T	C	X: 150,408,227 (GRCm39)	V859A	probably benign	Het
Plec	T	A	15: 76,060,979 (GRCm39)	E3054V	probably damaging	Het
Prr12	C	A	7: 44,678,270 (GRCm39)	K1958N	unknown	Het
Psmf1	A	G	2: 151,582,929 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,222,002 (GRCm39)		probably null	Het
Samm50	T	C	15: 84,080,015 (GRCm39)	V31A	probably benign	Het
St14	A	G	9: 31,019,941 (GRCm39)	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,590,360 (GRCm39)	N699S	probably damaging	Het
Ttn	A	T	2: 76,574,144 (GRCm39)	M25583K	probably damaging	Het
Utrn	A	G	10: 12,585,798 (GRCm39)	V993A	probably benign	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
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
R8207:Or4n4	UTSW	14	50,519,036 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16