Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Or2j6'

599740

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

045845-MU

Accession Numbers

Essential gene?

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

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139980043-139980957 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 139980610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 116 (Y116*)

Ref Sequence

ENSEMBL: ENSMUSP00000079048 (fasta)

Gene Model

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

AlphaFold

Q8VGL2

Predicted Effect

probably null
Transcript: ENSMUST00000080153
AA Change: Y116*

SMART Domains

Protein: ENSMUSP00000079048
Gene: ENSMUSG00000062712
AA Change: Y116*

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 null
Transcript: ENSMUST00000216053
AA Change: Y116*

Predicted Effect

probably null
Transcript: ENSMUST00000217167
AA Change: Y116*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Anln	A	G	9: 22,263,333 (GRCm39)	S113P		Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 85,635,505 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Glmn	T	G	5: 107,696,941 (GRCm39)	N592T	probably benign	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Insyn2b	T	A	11: 34,352,537 (GRCm39)	M193K	probably benign	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,268,076 (GRCm39)	D149G	unknown	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,397,892 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,040,845 (GRCm39)	P703S	probably damaging	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
R5883:Or2j6	UTSW	7	139,980,101 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGCTCAACCACATTGGAGC -3'
(R):5'- GGAAACCTGCTCATTATGGTGAC -3'

Sequencing Primer
(F):5'- ACCACATTGGAGCTGCAG -3'
(R):5'- TGGTGACAATCAGTGCCAGC -3'

Posted On

2019-11-26