Mutagenetix > Incidental Mutation

Incidental Mutation 'R0589:Or2j6'

55872

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

038779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0589 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

139980043-139980957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 139980813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 49 (S49R)

Ref Sequence

ENSEMBL: ENSMUSP00000149942 (fasta)

Gene Model

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

AlphaFold

Q8VGL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080153
AA Change: S49R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079048
Gene: ENSMUSG00000062712
AA Change: S49R

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

possibly damaging
Transcript: ENSMUST00000216053
AA Change: S49R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217032

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217167
AA Change: S49R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.1%

Validation Efficiency

98% (62/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,833,094 (GRCm39)	A1202E	probably damaging	Het
Abcc12	A	T	8: 87,287,101 (GRCm39)	I155N	possibly damaging	Het
Atf4	T	A	15: 80,140,640 (GRCm39)	H47Q	probably damaging	Het
Atm	T	A	9: 53,401,492 (GRCm39)	D1459V	possibly damaging	Het
Bicral	A	G	17: 47,112,522 (GRCm39)	S893P	probably benign	Het
Camk2a	G	A	18: 61,097,036 (GRCm39)		probably null	Het
Cebpz	G	A	17: 79,244,308 (GRCm39)	T51I	probably damaging	Het
Cers5	A	T	15: 99,638,837 (GRCm39)	D208E	probably damaging	Het
Cimip2b	T	C	4: 43,427,355 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,586,345 (GRCm39)	D391G	possibly damaging	Het
Dct	G	T	14: 118,280,682 (GRCm39)	F111L	probably benign	Het
Ddb1	T	G	19: 10,599,080 (GRCm39)	I529S	probably benign	Het
Dhx9	G	T	1: 153,348,037 (GRCm39)	Q361K	probably damaging	Het
Dnai3	A	G	3: 145,768,086 (GRCm39)	S592P	probably benign	Het
Erbin	G	T	13: 104,022,795 (GRCm39)	R15S	probably damaging	Het
F13b	T	C	1: 139,434,671 (GRCm39)	S146P	possibly damaging	Het
Ggnbp2	A	T	11: 84,727,277 (GRCm39)	C520S	probably damaging	Het
Gpx3	A	G	11: 54,800,329 (GRCm39)	I208V	probably benign	Het
Grk3	A	G	5: 113,076,629 (GRCm39)		probably benign	Het
Heatr9	T	C	11: 83,405,516 (GRCm39)		probably benign	Het
Heg1	T	G	16: 33,552,077 (GRCm39)	I762R	probably damaging	Het
Ints11	A	T	4: 155,971,343 (GRCm39)	T264S	probably damaging	Het
Ints14	T	C	9: 64,887,113 (GRCm39)	L348P	probably damaging	Het
Maco1	C	A	4: 134,555,528 (GRCm39)	C315F	probably benign	Het
Marf1	C	A	16: 13,959,919 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,174,075 (GRCm39)	Y1808H	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrpl45	A	T	11: 97,214,714 (GRCm39)	T134S	probably benign	Het
Myh8	A	G	11: 67,189,453 (GRCm39)	I1210V	probably benign	Het
Nsd3	T	C	8: 26,131,303 (GRCm39)	S223P	probably damaging	Het
Or4c115	A	G	2: 88,927,606 (GRCm39)	F222L	probably benign	Het
Or5be3	A	T	2: 86,864,459 (GRCm39)	Y35*	probably null	Het
P3h3	T	A	6: 124,818,644 (GRCm39)	E731D	probably damaging	Het
Pcdhac2	A	G	18: 37,279,527 (GRCm39)	R836G	probably benign	Het
Pdzd2	A	G	15: 12,376,385 (GRCm39)	V1250A	probably benign	Het
Pgbd1	G	A	13: 21,618,600 (GRCm39)	T19I	possibly damaging	Het
Phtf2	T	A	5: 21,018,249 (GRCm39)	R31*	probably null	Het
Plod2	T	A	9: 92,475,799 (GRCm39)	V294D	probably benign	Het
Rassf5	C	T	1: 131,172,720 (GRCm39)	G50R	probably damaging	Het
Rexo5	A	G	7: 119,444,606 (GRCm39)	T694A	probably benign	Het
Rtcb	A	C	10: 85,787,315 (GRCm39)	S82A	probably damaging	Het
Rufy4	T	C	1: 74,172,042 (GRCm39)	L255P	probably damaging	Het
Slc35c1	A	G	2: 92,284,859 (GRCm39)	F252L	probably damaging	Het
Slco6d1	A	T	1: 98,427,472 (GRCm39)		probably benign	Het
Sox10	T	G	15: 79,047,485 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,529,028 (GRCm39)	M1762V	probably benign	Het
Stat3	A	T	11: 100,798,909 (GRCm39)	Y94N	probably damaging	Het
Tasor	T	C	14: 27,183,107 (GRCm39)	I522T	probably benign	Het
Tecta	T	A	9: 42,256,930 (GRCm39)	Y1582F	probably benign	Het
Tex44	A	G	1: 86,355,453 (GRCm39)	D454G	probably damaging	Het
Tle6	A	G	10: 81,431,253 (GRCm39)		probably benign	Het
Tmod2	T	C	9: 75,484,041 (GRCm39)	E303G	probably damaging	Het
Trem1	A	G	17: 48,544,245 (GRCm39)	D90G	possibly damaging	Het
Trhde	A	T	10: 114,284,229 (GRCm39)	D751E	probably benign	Het
Ttn	A	T	2: 76,795,589 (GRCm39)		probably null	Het
Vars2	T	C	17: 35,970,068 (GRCm39)	T774A	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
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
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'- CCACAAAGCGGTCATAGGCCATAG -3'
(R):5'- ACTGGAACTGGAGCATGTCTTTCAC -3'

Sequencing Primer
(F):5'- CGGTCATAGGCCATAGCTGAG -3'
(R):5'- CAGATCCTATCAGAGCTGTTACAGG -3'

Posted On

2013-07-11