Mutagenetix > Incidental Mutation

Incidental Mutation 'R8559:Or14j6'

660956

Institutional Source

Beutler Lab

Gene Symbol

Or14j6

Ensembl Gene

ENSMUSG00000058114

Gene Name

olfactory receptor family 14 subfamily J member 6

Synonyms

MOR218-7, Olfr127, GA_x6K02T2PSCP-2354126-2355093

MMRRC Submission

068522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38214439-38215410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38214719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 94 (Y94F)

Ref Sequence

ENSEMBL: ENSMUSP00000149133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076331] [ENSMUST00000217223]

AlphaFold

Q8VF25

Predicted Effect

probably benign
Transcript: ENSMUST00000076331
AA Change: Y94F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075669
Gene: ENSMUSG00000058114
AA Change: Y94F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-46	PFAM
Pfam:7tm_1	41	290	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217223
AA Change: Y94F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	A	10: 89,568,048 (GRCm39)	H19L	probably benign	Het
Adamts9	A	T	6: 92,784,117 (GRCm39)	V1579E	probably benign	Het
Arhgap40	C	T	2: 158,383,721 (GRCm39)	R435C	probably damaging	Het
Atp1a4	T	C	1: 172,078,897 (GRCm39)	D207G	probably damaging	Het
Btaf1	A	G	19: 36,964,273 (GRCm39)	N948S	probably benign	Het
Calcr	G	A	6: 3,692,603 (GRCm39)	P417L	probably damaging	Het
Ccn2	CCCGCCAACCGC	CCCGC	10: 24,471,966 (GRCm39)		probably null	Het
Cep250	T	A	2: 155,834,656 (GRCm39)	S2194T	probably damaging	Het
Clcn6	C	T	4: 148,111,032 (GRCm39)	V102M	possibly damaging	Het
Cog2	T	C	8: 125,269,647 (GRCm39)	S396P	probably benign	Het
Col28a1	C	A	6: 8,166,681 (GRCm39)	R265L	unknown	Het
Cpa6	C	T	1: 10,478,574 (GRCm39)	W254*	probably null	Het
Crtc2	T	A	3: 90,170,904 (GRCm39)	M659K	possibly damaging	Het
Dnah7c	A	G	1: 46,764,299 (GRCm39)	Y3020C	probably damaging	Het
Dok2	C	A	14: 71,014,968 (GRCm39)	H232N	probably benign	Het
Edem3	A	G	1: 151,694,169 (GRCm39)	E834G	probably benign	Het
Elac2	T	A	11: 64,872,502 (GRCm39)		probably null	Het
Epx	T	A	11: 87,755,618 (GRCm39)	I689F	probably damaging	Het
Exd2	G	A	12: 80,522,631 (GRCm39)	R30H	probably benign	Het
Gja1	T	C	10: 56,264,304 (GRCm39)	L221P	probably damaging	Het
Gli3	T	A	13: 15,834,717 (GRCm39)	L400Q	probably damaging	Het
Gm8439	T	A	4: 120,458,008 (GRCm39)	W50R	unknown	Het
Greb1	T	A	12: 16,746,436 (GRCm39)	D1278V	probably damaging	Het
Grin3a	C	A	4: 49,770,555 (GRCm39)	C739F	probably damaging	Het
Gucy2g	C	A	19: 55,198,786 (GRCm39)	V786F	probably benign	Het
Hmcn1	G	A	1: 150,551,789 (GRCm39)	T2605I	probably benign	Het
Hmgxb3	T	A	18: 61,288,491 (GRCm39)	T459S	probably benign	Het
Ift172	T	C	5: 31,413,921 (GRCm39)	H1469R	probably damaging	Het
Il1rap	A	G	16: 26,530,884 (GRCm39)	I407V	probably benign	Het
Inppl1	G	T	7: 101,478,834 (GRCm39)	S555*	probably null	Het
Krt8	T	C	15: 101,909,979 (GRCm39)	M142V	probably benign	Het
Lrrk1	T	A	7: 65,932,075 (GRCm39)	N1049I	possibly damaging	Het
Megf10	G	A	18: 57,373,699 (GRCm39)	A166T	probably damaging	Het
Mei4	A	T	9: 81,907,684 (GRCm39)	H338L	probably benign	Het
Mfsd2b	T	C	12: 4,921,471 (GRCm39)	T33A	possibly damaging	Het
Mgat3	A	T	15: 80,096,370 (GRCm39)	Y399F	probably damaging	Het
Mtmr4	C	T	11: 87,494,950 (GRCm39)	T414I	probably damaging	Het
Muc4	T	C	16: 32,754,715 (GRCm38)	S1530P	unknown	Het
Myl4	T	C	11: 104,474,930 (GRCm39)	V93A	possibly damaging	Het
N4bp2	T	A	5: 65,982,628 (GRCm39)	S1627R	possibly damaging	Het
Narf	T	G	11: 121,141,258 (GRCm39)		probably null	Het
Nbas	A	C	12: 13,402,809 (GRCm39)	I788L	probably benign	Het
Nlrc3	A	G	16: 3,783,146 (GRCm39)	S104P	probably benign	Het
Or4a68	T	A	2: 89,270,528 (GRCm39)	I32F	probably benign	Het
Or4c11	A	T	2: 88,695,527 (GRCm39)	I193L	probably benign	Het
Or8k3	A	G	2: 86,058,988 (GRCm39)	V109A	probably benign	Het
Ppp4r4	A	T	12: 103,559,420 (GRCm39)	T534S	probably benign	Het
Prg3	A	G	2: 84,819,680 (GRCm39)	E58G	probably benign	Het
Prima1	A	G	12: 103,163,512 (GRCm39)	V153A	possibly damaging	Het
Rp1	A	T	1: 4,419,784 (GRCm39)	Y443N	probably damaging	Het
Rpgrip1	T	C	14: 52,386,714 (GRCm39)	S882P	unknown	Het
Scn1a	T	A	2: 66,118,077 (GRCm39)	D412V	probably damaging	Het
Srcin1	T	C	11: 97,427,975 (GRCm39)	T180A	probably damaging	Het
Suox	A	G	10: 128,506,600 (GRCm39)	L476P	probably damaging	Het
Tas2r104	T	C	6: 131,662,388 (GRCm39)	Y107C	probably damaging	Het
Tubg2	T	C	11: 101,047,610 (GRCm39)	V65A	probably damaging	Het
Ubn1	T	C	16: 4,882,634 (GRCm39)	V365A	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,646 (GRCm39)	M807V	probably benign	Het
Vmn2r75	T	A	7: 85,815,480 (GRCm39)	Y128F	possibly damaging	Het
Vps13b	A	T	15: 35,876,788 (GRCm39)	I2814F	probably damaging	Het
Vps54	T	C	11: 21,214,815 (GRCm39)	Y108H	probably damaging	Het
Wdr6	T	A	9: 108,452,593 (GRCm39)	E430V	probably benign	Het
Zfp619	T	A	7: 39,186,559 (GRCm39)	V863E	probably benign	Het

Other mutations in Or14j6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Or14j6	APN	17	38,215,148 (GRCm39)	missense	probably damaging	0.98
IGL00981:Or14j6	APN	17	38,215,072 (GRCm39)	missense	probably benign	0.03
IGL02271:Or14j6	APN	17	38,215,134 (GRCm39)	missense	probably benign	0.22
IGL02409:Or14j6	APN	17	38,214,679 (GRCm39)	missense	probably damaging	0.99
R1649:Or14j6	UTSW	17	38,215,060 (GRCm39)	missense	probably benign	0.09
R1808:Or14j6	UTSW	17	38,214,661 (GRCm39)	missense	probably damaging	1.00
R2360:Or14j6	UTSW	17	38,215,345 (GRCm39)	missense	possibly damaging	0.94
R3808:Or14j6	UTSW	17	38,214,464 (GRCm39)	missense	probably benign	0.00
R3809:Or14j6	UTSW	17	38,214,464 (GRCm39)	missense	probably benign	0.00
R3953:Or14j6	UTSW	17	38,214,500 (GRCm39)	missense	probably benign	0.00
R3955:Or14j6	UTSW	17	38,214,500 (GRCm39)	missense	probably benign	0.00
R3957:Or14j6	UTSW	17	38,214,500 (GRCm39)	missense	probably benign	0.00
R4683:Or14j6	UTSW	17	38,215,039 (GRCm39)	missense	probably benign
R5430:Or14j6	UTSW	17	38,215,304 (GRCm39)	missense	probably damaging	1.00
R5716:Or14j6	UTSW	17	38,214,719 (GRCm39)	missense	probably benign	0.00
R5866:Or14j6	UTSW	17	38,214,700 (GRCm39)	nonsense	probably null
R7074:Or14j6	UTSW	17	38,214,718 (GRCm39)	missense	possibly damaging	0.80
R7238:Or14j6	UTSW	17	38,215,328 (GRCm39)	missense	probably benign	0.37
R8098:Or14j6	UTSW	17	38,215,250 (GRCm39)	missense	probably damaging	1.00
R8212:Or14j6	UTSW	17	38,215,148 (GRCm39)	missense	probably benign	0.00
R8865:Or14j6	UTSW	17	38,215,115 (GRCm39)	missense	probably damaging	1.00
R9046:Or14j6	UTSW	17	38,215,145 (GRCm39)	missense	probably damaging	1.00
R9049:Or14j6	UTSW	17	38,214,764 (GRCm39)	nonsense	probably null
R9371:Or14j6	UTSW	17	38,214,962 (GRCm39)	missense	probably benign	0.10
X0021:Or14j6	UTSW	17	38,214,647 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATTCAGCAGGGAACTTC -3'
(R):5'- TGCCCACAGAATCTGATAGAGAG -3'

Sequencing Primer
(F):5'- GCAGGGAACTTCATCATTATCAC -3'
(R):5'- AATGTTCCTGAGATACCTCCACTTAG -3'

Posted On

2021-03-08