Mutagenetix > Incidental Mutation

Incidental Mutation 'R8048:Or5j3'

618851

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

067485-MU

Accession Numbers

Essential gene?

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

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86128162-86129100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86128672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 171 (P171S)

Ref Sequence

ENSEMBL: ENSMUSP00000149344 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000054746
AA Change: P171S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058454
Gene: ENSMUSG00000047149
AA Change: P171S

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

probably benign
Transcript: ENSMUST00000215090
AA Change: P171S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000217166
AA Change: P171S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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
Abcc1	A	T	16: 14,228,708 (GRCm39)	L318F	probably damaging	Het
Alms1	T	A	6: 85,618,316 (GRCm39)	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883 (GRCm39)	T443I	probably benign	Het
Arhgap29	C	T	3: 121,786,550 (GRCm39)	R372W	probably damaging	Het
Astn1	T	C	1: 158,516,208 (GRCm39)	I1266T	probably benign	Het
Bsg	T	C	10: 79,545,580 (GRCm39)	V164A	probably benign	Het
C1qa	G	T	4: 136,623,921 (GRCm39)	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,862 (GRCm39)	V92A	probably benign	Het
Ccdc187	T	A	2: 26,183,526 (GRCm39)	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,989,838 (GRCm39)	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,758,706 (GRCm39)	A285V	probably null	Het
Dsg1c	A	T	18: 20,407,824 (GRCm39)	K390M	probably damaging	Het
Dst	T	C	1: 34,229,717 (GRCm39)	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,533,959 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,694,482 (GRCm39)	I303V	probably benign	Het
Ffar1	A	T	7: 30,560,003 (GRCm39)	I298N	probably benign	Het
Hpx	C	T	7: 105,244,685 (GRCm39)	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,098,786 (GRCm39)	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903 (GRCm38)	D99G	probably benign	Het
Ivl	T	A	3: 92,479,231 (GRCm39)	K278M	probably damaging	Het
Lyst	A	G	13: 13,862,230 (GRCm39)	T2589A	probably benign	Het
Madd	A	T	2: 90,984,793 (GRCm39)	M1359K	probably damaging	Het
Nav3	T	C	10: 109,600,779 (GRCm39)	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,156,661 (GRCm39)	C439*	probably null	Het
Nebl	T	C	2: 17,429,333 (GRCm39)	D266G	probably benign	Het
Oas1f	G	T	5: 120,985,602 (GRCm39)	G49V	probably damaging	Het
Oas1f	A	T	5: 120,986,479 (GRCm39)	Q144L	possibly damaging	Het
Or11g7	T	C	14: 50,691,373 (GRCm39)	L288P	possibly damaging	Het
Or2ab1	A	G	11: 58,488,233 (GRCm39)	I6V	unknown	Het
Or2n1	T	C	17: 38,486,419 (GRCm39)	V148A	probably benign	Het
Or5an6	A	G	19: 12,371,719 (GRCm39)	I31V	not run	Het
Or5m3	T	G	2: 85,838,524 (GRCm39)	S135A	probably damaging	Het
Or5t18	T	A	2: 86,636,515 (GRCm39)	Y276F	probably damaging	Het
Or6b6	C	T	7: 106,571,671 (GRCm39)		probably benign	Het
Or8b52	C	T	9: 38,577,108 (GRCm39)	E11K	probably benign	Het
Or8j3c	T	A	2: 86,253,651 (GRCm39)	Y123F	probably damaging	Het
Pard3b	T	A	1: 62,193,148 (GRCm39)	V217E	probably damaging	Het
Pcdha2	T	A	18: 37,072,513 (GRCm39)	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,120,991 (GRCm39)	F1248L		Het
Plekha2	A	T	8: 25,554,005 (GRCm39)		probably benign	Het
Plpp4	C	T	7: 128,981,201 (GRCm39)	R151C	unknown	Het
Pramel14	T	A	4: 143,718,177 (GRCm39)	Y422F	probably benign	Het
Prdm16	A	G	4: 154,405,339 (GRCm39)	L1245P	probably damaging	Het
Prob1	G	A	18: 35,786,604 (GRCm39)	A550V	probably benign	Het
Prok1	T	C	3: 107,144,408 (GRCm39)	H65R	probably benign	Het
Ptcd1	A	G	5: 145,091,887 (GRCm39)	V404A	probably benign	Het
Sbf2	T	C	7: 109,914,289 (GRCm39)	E1631G	probably benign	Het
Sdad1	C	A	5: 92,447,948 (GRCm39)	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,794,272 (GRCm39)	A547S	probably benign	Het
Sptb	T	C	12: 76,675,333 (GRCm39)	D227G	probably benign	Het
Tbx1	A	G	16: 18,406,769 (GRCm39)	M1T	probably null	Het
Tespa1	T	A	10: 130,183,208 (GRCm39)	V51D	probably damaging	Het
Tmc7	T	C	7: 118,165,468 (GRCm39)	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476 (GRCm39)	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,493 (GRCm39)	T23S	probably damaging	Het
Trib3	A	T	2: 152,180,553 (GRCm39)	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,013,981 (GRCm39)	V178A	probably benign	Het
Virma	T	A	4: 11,539,918 (GRCm39)	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,691,762 (GRCm39)	T254A	probably benign	Het
Vps13d	A	G	4: 144,882,137 (GRCm39)	V1152A		Het
Wdr47	T	C	3: 108,526,284 (GRCm39)	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,561,977 (GRCm39)	D676E	unknown	Het
Zc3h6	T	A	2: 128,858,934 (GRCm39)	S988R	probably benign	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
R5389:Or5j3	UTSW	2	86,128,561 (GRCm39)	missense	possibly damaging	0.90
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
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'- TTTTCGGAGTGCTGGTTACCAC -3'
(R):5'- TTTTGTCGTCCAGAAGCTGAG -3'

Sequencing Primer
(F):5'- CCGAAGGCTTCTTGCTGTCAG -3'
(R):5'- TCCAGAAGCTGAGCGTATTC -3'

Posted On

2020-01-23