Mutagenetix > Incidental Mutation

Incidental Mutation 'R5883:Or2j6'

454523

Institutional Source

Beutler Lab

Gene Symbol

Or2j6

Ensembl Gene

ENSMUSG00000062712

Gene Name

olfactory receptor family 2 subfamily J member 6

Synonyms

GA_x6K02T2PBJ9-42551260-42550346, Olfr531, MOR251-3

MMRRC Submission

044086-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139980043-139980957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139980101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 286 (Y286F)

Ref Sequence

ENSEMBL: ENSMUSP00000149942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080153] [ENSMUST00000216053] [ENSMUST00000217167]

AlphaFold

Q8VGL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000080153
AA Change: Y286F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079048
Gene: ENSMUSG00000062712
AA Change: Y286F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	303	6.3e-46	PFAM
Pfam:7tm_1	38	286	1.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216053
AA Change: Y286F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217032

Predicted Effect

probably damaging
Transcript: ENSMUST00000217167
AA Change: Y286F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6961

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aass	G	A	6: 23,072,993 (GRCm39)	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256 (GRCm39)	I168V	possibly damaging	Het
Ambn	T	A	5: 88,615,688 (GRCm39)	Y372*	probably null	Het
Ano3	T	A	2: 110,711,209 (GRCm39)	E85V	probably null	Het
Bmf	C	T	2: 118,377,447 (GRCm39)		silent	Het
Bmper	T	A	9: 23,317,970 (GRCm39)	S530T	probably benign	Het
Bop1	T	C	15: 76,339,049 (GRCm39)	D383G	probably damaging	Het
Bub1b	T	A	2: 118,440,363 (GRCm39)	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,595,896 (GRCm39)	V1987A	probably benign	Het
Cd84	T	C	1: 171,700,405 (GRCm39)	V174A	possibly damaging	Het
Cep290	T	A	10: 100,359,261 (GRCm39)	L997Q	probably benign	Het
Chil4	C	T	3: 106,117,886 (GRCm39)	R128H	possibly damaging	Het
Cpne3	A	T	4: 19,552,314 (GRCm39)	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,943,879 (GRCm39)	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,824,008 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,369,711 (GRCm39)	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,806,185 (GRCm39)		probably benign	Het
Gm6264	G	A	1: 85,148,903 (GRCm39)		probably benign	Het
Has2	T	A	15: 56,531,459 (GRCm39)	I419F	possibly damaging	Het
Hscb	A	G	5: 110,987,444 (GRCm39)	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,323,183 (GRCm39)	S4G	probably benign	Het
Islr2	G	T	9: 58,105,998 (GRCm39)	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,715,059 (GRCm39)	I156V	possibly damaging	Het
Klk1b24	A	G	7: 43,839,787 (GRCm39)	I49V	probably benign	Het
Krt90	C	T	15: 101,461,654 (GRCm39)		probably benign	Het
Larp1	C	T	11: 57,933,125 (GRCm39)	S243F	probably damaging	Het
Lrp4	T	C	2: 91,318,778 (GRCm39)	Y872H	probably benign	Het
Maip1	T	C	1: 57,446,260 (GRCm39)	M110T	probably damaging	Het
Marchf7	G	A	2: 60,064,786 (GRCm39)	R354Q	probably damaging	Het
Med12l	G	T	3: 58,998,889 (GRCm39)	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,110,049 (GRCm39)		probably null	Het
Or5ac25	A	T	16: 59,182,078 (GRCm39)	C168S	probably damaging	Het
Or5p66	C	T	7: 107,885,451 (GRCm39)	S294N	probably damaging	Het
Pdzd9	T	A	7: 120,267,776 (GRCm39)	E13V	possibly damaging	Het
Ppip5k2	C	T	1: 97,635,535 (GRCm39)	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,533,778 (GRCm39)	Q1539K	probably benign	Het
Rad54l	C	G	4: 115,956,243 (GRCm39)		probably benign	Het
Ric1	T	A	19: 29,573,389 (GRCm39)	I943N	probably damaging	Het
Rif1	T	A	2: 51,995,651 (GRCm39)		probably null	Het
Rpl12	T	C	2: 32,852,536 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,860,637 (GRCm39)		probably benign	Het
Scarb1	C	A	5: 125,417,971 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,040,463 (GRCm39)	E359G	probably damaging	Het
Taf5	A	G	19: 47,056,228 (GRCm39)	T9A	unknown	Het
Tmem128	C	T	5: 38,423,885 (GRCm39)	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444 (GRCm39)	V453G	probably benign	Het
Ubxn4	T	A	1: 128,183,867 (GRCm39)	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,743,786 (GRCm39)	Y483F	probably benign	Het
Xkr5	A	G	8: 18,990,806 (GRCm39)	S154P	probably damaging	Het
Zfp687	T	C	3: 94,919,355 (GRCm39)	N139S	probably benign	Het

Other mutations in Or2j6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01750:Or2j6	APN	7	139,980,570 (GRCm39)	missense	probably benign
IGL02190:Or2j6	APN	7	139,980,033 (GRCm39)	utr 3 prime	probably benign
IGL02548:Or2j6	APN	7	139,980,575 (GRCm39)	missense	probably damaging	1.00
R0200:Or2j6	UTSW	7	139,980,788 (GRCm39)	missense	probably damaging	1.00
R0589:Or2j6	UTSW	7	139,980,813 (GRCm39)	missense	possibly damaging	0.94
R1325:Or2j6	UTSW	7	139,980,794 (GRCm39)	missense	probably damaging	1.00
R1985:Or2j6	UTSW	7	139,980,713 (GRCm39)	missense	possibly damaging	0.68
R4671:Or2j6	UTSW	7	139,980,218 (GRCm39)	missense	probably damaging	1.00
R4754:Or2j6	UTSW	7	139,980,072 (GRCm39)	missense	probably damaging	0.99
R4941:Or2j6	UTSW	7	139,980,792 (GRCm39)	missense	probably benign	0.24
R5015:Or2j6	UTSW	7	139,980,083 (GRCm39)	missense	probably damaging	0.99
R5070:Or2j6	UTSW	7	139,980,482 (GRCm39)	missense	probably benign	0.00
R5244:Or2j6	UTSW	7	139,980,051 (GRCm39)	missense	probably benign	0.00
R6437:Or2j6	UTSW	7	139,980,434 (GRCm39)	missense	probably damaging	1.00
R7246:Or2j6	UTSW	7	139,980,061 (GRCm39)	missense	probably benign	0.34
R7396:Or2j6	UTSW	7	139,980,476 (GRCm39)	missense	probably benign	0.00
R7742:Or2j6	UTSW	7	139,980,234 (GRCm39)	missense	probably benign	0.01
R7789:Or2j6	UTSW	7	139,980,610 (GRCm39)	nonsense	probably null
R7799:Or2j6	UTSW	7	139,980,377 (GRCm39)	missense	probably damaging	0.99
R9077:Or2j6	UTSW	7	139,980,809 (GRCm39)	missense	probably benign	0.01
R9087:Or2j6	UTSW	7	139,980,547 (GRCm39)	nonsense	probably null
R9735:Or2j6	UTSW	7	139,980,378 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTGCAGCAGTCCAACAGTTG -3'
(R):5'- GCTTTATTGTGGCCAGCATCC -3'

Sequencing Primer
(F):5'- CAACAGTTGTCCCTTATGGTTGAAC -3'
(R):5'- TATTGTGGCCAGCATCCTGAAGATC -3'

Posted On

2017-02-10