Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Or5j3'

453467

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

Accession Numbers

Essential gene?

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

Stock #

IGL02988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86128162-86129100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86128823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 221 (I221T)

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 damaging
Transcript: ENSMUST00000054746
AA Change: I221T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058454
Gene: ENSMUSG00000047149
AA Change: I221T

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 damaging
Transcript: ENSMUST00000215090
AA Change: I221T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217166
AA Change: I221T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.3254

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	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
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
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'- TGATGGTCACTGGGTCAGTC -3'
(R):5'- AGGAATCACCAGTGTATAGAACACC -3'

Sequencing Primer
(F):5'- CACACCATAAGTTTGAGTAAGCTGTC -3'
(R):5'- TGTATAGAACACCGACACCACCTTC -3'

Posted On

2017-02-08