Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Or5j3'

425452

Institutional Source

Beutler Lab

Gene Symbol

Or5j3

Ensembl Gene

ENSMUSG00000047149

Gene Name

olfactory receptor family 5 subfamily J member 3

Synonyms

GA_x6K02T2Q125-47777498-47778436, Olfr1052, MOR172-1

MMRRC Submission

042961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86128162-86129100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86128561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 134 (V134M)

Ref Sequence

ENSEMBL: ENSMUSP00000149344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054746] [ENSMUST00000215090] [ENSMUST00000217166]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054746
AA Change: V134M

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058454
Gene: ENSMUSG00000047149
AA Change: V134M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-51	PFAM
Pfam:7tm_1	41	290	6.9e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215090
AA Change: V134M

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217166
AA Change: V134M

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

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
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,644,559 (GRCm39)	V148E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Crocc2	C	A	1: 93,143,363 (GRCm39)	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Net1	C	T	13: 3,936,170 (GRCm39)	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Notch3	T	A	17: 32,358,163 (GRCm39)	I1687L	probably benign	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or51v14	G	T	7: 103,260,797 (GRCm39)	Y254*	probably null	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,478,666 (GRCm39)	E255G	probably damaging	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Yme1l1	G	A	2: 23,083,246 (GRCm39)	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	probably damaging	Het

Other mutations in Or5j3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02632:Or5j3	APN	2	86,128,904 (GRCm39)	missense	probably damaging	0.99
IGL02988:Or5j3	UTSW	2	86,128,823 (GRCm39)	missense	probably damaging	0.99
R0382:Or5j3	UTSW	2	86,128,937 (GRCm39)	missense	probably damaging	1.00
R0569:Or5j3	UTSW	2	86,128,941 (GRCm39)	missense	probably damaging	1.00
R1476:Or5j3	UTSW	2	86,128,823 (GRCm39)	missense	probably damaging	0.99
R1510:Or5j3	UTSW	2	86,128,715 (GRCm39)	missense	probably damaging	1.00
R1667:Or5j3	UTSW	2	86,129,080 (GRCm39)	missense	probably null	0.02
R2912:Or5j3	UTSW	2	86,128,733 (GRCm39)	missense	probably damaging	0.96
R2913:Or5j3	UTSW	2	86,128,733 (GRCm39)	missense	probably damaging	0.96
R3937:Or5j3	UTSW	2	86,128,360 (GRCm39)	missense	probably damaging	1.00
R4299:Or5j3	UTSW	2	86,128,585 (GRCm39)	missense	possibly damaging	0.46
R4774:Or5j3	UTSW	2	86,129,042 (GRCm39)	missense	possibly damaging	0.91
R5027:Or5j3	UTSW	2	86,128,540 (GRCm39)	missense	possibly damaging	0.84
R5080:Or5j3	UTSW	2	86,128,258 (GRCm39)	missense	probably benign	0.22
R5254:Or5j3	UTSW	2	86,128,265 (GRCm39)	missense	probably damaging	1.00
R6110:Or5j3	UTSW	2	86,129,019 (GRCm39)	missense	probably damaging	0.99
R6492:Or5j3	UTSW	2	86,128,990 (GRCm39)	missense	probably benign	0.05
R6810:Or5j3	UTSW	2	86,128,267 (GRCm39)	missense	probably benign	0.01
R7095:Or5j3	UTSW	2	86,129,021 (GRCm39)	missense	probably benign	0.08
R7104:Or5j3	UTSW	2	86,128,564 (GRCm39)	missense	probably benign
R7320:Or5j3	UTSW	2	86,128,338 (GRCm39)	frame shift	probably null
R7328:Or5j3	UTSW	2	86,128,338 (GRCm39)	frame shift	probably null
R7363:Or5j3	UTSW	2	86,128,338 (GRCm39)	frame shift	probably null
R8048:Or5j3	UTSW	2	86,128,672 (GRCm39)	missense	probably benign	0.04
R8202:Or5j3	UTSW	2	86,128,968 (GRCm39)	missense	probably benign	0.06
R8968:Or5j3	UTSW	2	86,128,526 (GRCm39)	missense	probably benign	0.00
R9160:Or5j3	UTSW	2	86,128,330 (GRCm39)	missense	probably benign	0.40
R9321:Or5j3	UTSW	2	86,128,297 (GRCm39)	missense	probably benign	0.01
R9694:Or5j3	UTSW	2	86,128,718 (GRCm39)	missense	probably benign	0.03
Z1176:Or5j3	UTSW	2	86,128,570 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGCCTGTTATTCATCAGTCATTGC -3'
(R):5'- CCAATGGCGATAACTCCAGAG -3'

Sequencing Primer
(F):5'- CAGTCATTGCACCAAAAATGTTG -3'
(R):5'- CATTCATGGAGGTATCAGAACATG -3'

Posted On

2016-08-04