Mutagenetix > Incidental Mutation

Incidental Mutation 'R6437:Or2j6'

518817

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

044575-MU

Accession Numbers

Essential gene?

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

Stock #

R6437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139980043-139980957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139980434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 175 (C175Y)

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: C175Y

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

SMART Domains

Protein: ENSMUSP00000079048
Gene: ENSMUSG00000062712
AA Change: C175Y

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: C175Y

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: C175Y

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

Meta Mutation Damage Score

0.9249

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

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
Afg2a	T	A	3: 37,582,347 (GRCm39)	V794E	probably damaging	Het
Agrn	C	T	4: 156,261,235 (GRCm39)	V514I	probably damaging	Het
Atg16l1	T	C	1: 87,718,370 (GRCm39)	L545P	probably damaging	Het
Ces3b	T	A	8: 105,819,238 (GRCm39)	D431E	probably damaging	Het
Cracr2a	A	G	6: 127,608,794 (GRCm39)	D291G	probably damaging	Het
Csmd2	T	G	4: 127,881,893 (GRCm39)	C11G	probably benign	Het
Cstdc3	A	G	16: 36,132,999 (GRCm39)	E92G	probably damaging	Het
Dido1	A	G	2: 180,316,806 (GRCm39)	I127T	probably damaging	Het
Dpp8	A	T	9: 64,981,860 (GRCm39)	Y714F	probably benign	Het
Efcab5	G	A	11: 77,028,728 (GRCm39)	A201V	probably benign	Het
Eif3h	C	T	15: 51,662,660 (GRCm39)	V129I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fars2	G	A	13: 36,388,846 (GRCm39)	V112I	probably benign	Het
Fbn2	T	G	18: 58,246,435 (GRCm39)	D489A	probably damaging	Het
Frmd4b	G	T	6: 97,273,228 (GRCm39)	S675R	probably damaging	Het
Fsip2	C	T	2: 82,813,836 (GRCm39)	S3385F	possibly damaging	Het
Gtpbp10	A	G	5: 5,607,406 (GRCm39)	Y12H	probably damaging	Het
Kcng3	A	G	17: 83,938,558 (GRCm39)	S164P	probably damaging	Het
Kifap3	T	A	1: 163,685,095 (GRCm39)	L483Q	probably damaging	Het
Klk10	A	G	7: 43,432,241 (GRCm39)	H58R	probably benign	Het
Kntc1	T	G	5: 123,907,754 (GRCm39)	W452G	probably damaging	Het
Krt87	C	T	15: 101,336,273 (GRCm39)	D127N	possibly damaging	Het
Ldaf1	A	T	7: 119,715,584 (GRCm39)		probably null	Het
Lipm	A	G	19: 34,098,657 (GRCm39)	Y377C	probably damaging	Het
Mrc2	G	A	11: 105,240,669 (GRCm39)	R1453H	probably damaging	Het
Nat1	T	C	8: 67,944,388 (GRCm39)	F255L	possibly damaging	Het
Neb	C	T	2: 52,147,569 (GRCm39)		probably null	Het
Nek5	T	A	8: 22,575,476 (GRCm39)	D491V	possibly damaging	Het
Nynrin	T	C	14: 56,109,227 (GRCm39)	S1445P	probably benign	Het
Oog2	T	A	4: 143,921,678 (GRCm39)		probably null	Het
Pafah1b1	T	C	11: 74,568,557 (GRCm39)	T391A	probably benign	Het
Pcdhb7	T	C	18: 37,475,743 (GRCm39)	L293P	probably damaging	Het
Plce1	A	T	19: 38,513,576 (GRCm39)	T292S	probably benign	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Rfx7	A	G	9: 72,525,768 (GRCm39)	Q986R	possibly damaging	Het
Rrp9	G	T	9: 106,360,150 (GRCm39)	R186L	probably benign	Het
Samm50	T	A	15: 84,088,298 (GRCm39)		probably null	Het
Scoc	T	C	8: 84,164,616 (GRCm39)	D7G	probably benign	Het
Smad9	C	T	3: 54,693,505 (GRCm39)	P145S	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snrk	A	G	9: 121,995,879 (GRCm39)	R553G	probably damaging	Het
Srcap	T	A	7: 127,127,722 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,037,188 (GRCm39)	V3789E	possibly damaging	Het
Thsd7b	T	C	1: 129,744,419 (GRCm39)	I769T	probably damaging	Het
Ttc7	A	G	17: 87,637,534 (GRCm39)	K430E	probably damaging	Het
Ubr4	T	A	4: 139,124,525 (GRCm39)		probably null	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r37	G	T	7: 9,220,850 (GRCm39)	Q338K	probably damaging	Het
Yod1	T	C	1: 130,646,885 (GRCm39)	V254A	probably damaging	Het
Zfpm2	T	C	15: 40,962,793 (GRCm39)	S152P	probably benign	Het
Zmym2	T	A	14: 57,140,461 (GRCm39)	L100H	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
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'- ACATGGTGACCACGATGAGG -3'
(R):5'- TATGGCCTATGACCGCTTTG -3'

Sequencing Primer
(F):5'- TGACCACGATGAGGTGTGC -3'
(R):5'- ATGACCGCTTTGTGGCC -3'

Posted On

2018-05-24