Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03169:Or2j3'

411780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2j3

Ensembl Gene

ENSMUSG00000054940

Gene Name

olfactory receptor family 2 subfamily J member 3

Synonyms

Olfr137, MOR256-18, GA_x6K02T2PSCP-2749525-2748587

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.469) question?

Stock #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

38615412-38616350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38615992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 120 (S120Y)

Ref Sequence

ENSEMBL: ENSMUSP00000150173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057394] [ENSMUST00000213505]

AlphaFold

Q8VFC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000057394
AA Change: S120Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051537
Gene: ENSMUSG00000054940
AA Change: S120Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	4e-49	PFAM
Pfam:7tm_1	42	291	4.5e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213505
AA Change: S120Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,658,624 (GRCm39)	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,652,019 (GRCm39)	Q2995L	probably damaging	Het
Capn9	T	C	8: 125,332,616 (GRCm39)	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,454,957 (GRCm39)	I197N	probably damaging	Het
Chl1	T	A	6: 103,642,928 (GRCm39)	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,953,764 (GRCm39)		probably benign	Het
Cyp2d12	T	C	15: 82,443,492 (GRCm39)	S485P	probably benign	Het
Ddx50	A	T	10: 62,457,166 (GRCm39)		probably null	Het
Dlgap4	C	A	2: 156,552,938 (GRCm39)		probably null	Het
Dpysl4	G	A	7: 138,679,826 (GRCm39)		probably null	Het
Erbin	T	C	13: 103,977,740 (GRCm39)	M606V	possibly damaging	Het
Fat4	T	G	3: 39,011,547 (GRCm39)	S2216A	probably benign	Het
Frem2	T	C	3: 53,429,713 (GRCm39)	N2779S	probably benign	Het
Fut1	T	C	7: 45,268,457 (GRCm39)	V82A	probably benign	Het
Gnb1l	C	T	16: 18,359,205 (GRCm39)	A2V	probably damaging	Het
Hdac1	C	T	4: 129,412,624 (GRCm39)	E327K	probably null	Het
Hdlbp	A	G	1: 93,344,309 (GRCm39)	V819A	possibly damaging	Het
Ift122	T	C	6: 115,882,922 (GRCm39)		probably benign	Het
Iqgap2	T	C	13: 95,867,785 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,913,884 (GRCm39)	V613A	possibly damaging	Het
Lamb1	T	C	12: 31,373,645 (GRCm39)	V1458A	probably damaging	Het
Lef1	A	G	3: 130,988,312 (GRCm39)	K265R	probably damaging	Het
Lrp2	T	C	2: 69,353,538 (GRCm39)	D574G	probably damaging	Het
Mterf2	C	T	10: 84,956,324 (GRCm39)	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703 (GRCm38)	R155Q	probably damaging	Het
Obscn	T	C	11: 58,964,122 (GRCm39)	T3304A	probably damaging	Het
Or4a78	A	G	2: 89,497,831 (GRCm39)	I133T	possibly damaging	Het
Os9	G	A	10: 126,934,463 (GRCm39)	T391M	probably benign	Het
Parp6	C	A	9: 59,557,300 (GRCm39)	Y131*	probably null	Het
Plxdc1	T	C	11: 97,823,146 (GRCm39)	E358G	possibly damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Ptprc	A	T	1: 138,041,357 (GRCm39)	S167R	probably benign	Het
Rad54l2	T	C	9: 106,596,263 (GRCm39)	D225G	probably benign	Het
Rgs7	T	C	1: 175,098,401 (GRCm39)	I53V	possibly damaging	Het
Rpa1	T	C	11: 75,192,183 (GRCm39)	D607G	probably damaging	Het
Shisa5	T	A	9: 108,885,560 (GRCm39)	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,338,496 (GRCm39)		probably benign	Het
Taf4b	T	G	18: 14,954,592 (GRCm39)	V556G	probably damaging	Het
Tgif1	A	C	17: 71,151,836 (GRCm39)	S258R	possibly damaging	Het
Tmem106a	T	C	11: 101,481,284 (GRCm39)		probably benign	Het
Vmn1r113	A	T	7: 20,522,012 (GRCm39)	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,692,005 (GRCm39)	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,913,821 (GRCm39)	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,882,426 (GRCm39)	S241L	possibly damaging	Het
Zfyve9	T	C	4: 108,553,022 (GRCm39)	Y713C	probably damaging	Het

Other mutations in Or2j3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02131:Or2j3	APN	17	38,615,539 (GRCm39)	missense	probably benign	0.03
IGL03392:Or2j3	APN	17	38,615,786 (GRCm39)	missense	probably benign	0.02
R0055:Or2j3	UTSW	17	38,615,702 (GRCm39)	missense	possibly damaging	0.84
R0055:Or2j3	UTSW	17	38,615,702 (GRCm39)	missense	possibly damaging	0.84
R0496:Or2j3	UTSW	17	38,615,549 (GRCm39)	missense	probably damaging	0.99
R0761:Or2j3	UTSW	17	38,616,282 (GRCm39)	missense	probably benign	0.00
R1126:Or2j3	UTSW	17	38,615,579 (GRCm39)	missense	probably damaging	0.97
R1835:Or2j3	UTSW	17	38,616,203 (GRCm39)	missense	probably benign	0.02
R3727:Or2j3	UTSW	17	38,616,310 (GRCm39)	missense	possibly damaging	0.64
R5556:Or2j3	UTSW	17	38,615,964 (GRCm39)	missense	possibly damaging	0.71
R5979:Or2j3	UTSW	17	38,616,083 (GRCm39)	missense	probably benign
R6430:Or2j3	UTSW	17	38,616,249 (GRCm39)	missense	probably benign	0.04
R6433:Or2j3	UTSW	17	38,616,304 (GRCm39)	missense	probably damaging	1.00
R7400:Or2j3	UTSW	17	38,616,222 (GRCm39)	missense	possibly damaging	0.91
R8053:Or2j3	UTSW	17	38,616,101 (GRCm39)	missense	probably benign
R8199:Or2j3	UTSW	17	38,615,444 (GRCm39)	missense	probably benign	0.31
R8446:Or2j3	UTSW	17	38,615,638 (GRCm39)	missense	probably benign	0.01
R8865:Or2j3	UTSW	17	38,615,872 (GRCm39)	missense	probably damaging	0.97
R9116:Or2j3	UTSW	17	38,615,654 (GRCm39)	missense	probably benign	0.01
R9756:Or2j3	UTSW	17	38,615,971 (GRCm39)	missense	probably benign	0.13

Posted On

2016-08-02