Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02271:Or14j6'

287119

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or14j6

Ensembl Gene

ENSMUSG00000058114

Gene Name

olfactory receptor family 14 subfamily J member 6

Synonyms

MOR218-7, Olfr127, GA_x6K02T2PSCP-2354126-2355093

Accession Numbers

Essential gene?

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

Stock #

IGL02271

Quality Score

Status

Chromosome

Chromosomal Location

38214439-38215410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38215134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 232 (E232D)

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: E232D

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075669
Gene: ENSMUSG00000058114
AA Change: E232D

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: E232D

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astn1	C	T	1: 158,338,520 (GRCm39)		probably benign	Het
Bms1	C	A	6: 118,366,290 (GRCm39)	V1068F	probably benign	Het
Cand1	A	T	10: 119,047,626 (GRCm39)	N621K	probably damaging	Het
Cd44	C	T	2: 102,661,732 (GRCm39)	E418K	possibly damaging	Het
Clip2	A	T	5: 134,531,425 (GRCm39)	N758K	probably benign	Het
Cst11	A	T	2: 148,613,161 (GRCm39)	Y55N	probably damaging	Het
Cytip	A	T	2: 58,023,872 (GRCm39)	L316*	probably null	Het
Ddx52	T	C	11: 83,843,057 (GRCm39)	M352T	probably damaging	Het
Fancd2	G	A	6: 113,512,720 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,034,068 (GRCm39)	E2573D	probably benign	Het
Fbxl13	T	G	5: 21,695,454 (GRCm39)	D646A	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Grid2ip	A	G	5: 143,374,664 (GRCm39)	D928G	probably benign	Het
Hmgxb3	A	G	18: 61,265,285 (GRCm39)	L1231P	probably damaging	Het
Ifitm7	A	G	16: 13,801,541 (GRCm39)	F73L	probably damaging	Het
Ikbkb	T	A	8: 23,155,919 (GRCm39)	T583S	probably benign	Het
Kdm6b	G	A	11: 69,296,893 (GRCm39)	A458V	possibly damaging	Het
Klra2	T	C	6: 131,207,180 (GRCm39)	K143R	probably benign	Het
Kmt2d	A	G	15: 98,764,309 (GRCm39)	S42P	possibly damaging	Het
Krt78	T	A	15: 101,857,028 (GRCm39)	M360L	probably benign	Het
Lamb1	A	G	12: 31,350,250 (GRCm39)	N677S	probably damaging	Het
Lrrc9	G	A	12: 72,557,155 (GRCm39)	V1407I	probably benign	Het
Myo6	A	G	9: 80,168,113 (GRCm39)	T426A	probably benign	Het
Net1	T	C	13: 3,937,663 (GRCm39)	Y146C	probably damaging	Het
Nlrp4d	T	A	7: 10,122,625 (GRCm39)		noncoding transcript	Het
Notch4	A	T	17: 34,787,445 (GRCm39)	N335I	probably damaging	Het
Or5ac20	A	T	16: 59,104,584 (GRCm39)	I92K	probably damaging	Het
Or8b53	A	T	9: 38,667,784 (GRCm39)	T267S	probably benign	Het
Pax3	A	T	1: 78,171,969 (GRCm39)	H80Q	probably damaging	Het
Pclo	A	T	5: 14,729,508 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,348,567 (GRCm39)	D869G	probably damaging	Het
Per2	T	C	1: 91,373,332 (GRCm39)	Y152C	probably damaging	Het
Pilrb2	T	C	5: 137,865,125 (GRCm39)	D223G	probably benign	Het
Rag1	T	A	2: 101,473,733 (GRCm39)	I470F	probably damaging	Het
Rap1gap	T	C	4: 137,445,317 (GRCm39)	S333P	probably damaging	Het
Rundc3b	A	G	5: 8,542,530 (GRCm39)	Y430H	probably damaging	Het
Ryr1	T	C	7: 28,793,472 (GRCm39)	D1332G	probably benign	Het
Sgo1	G	A	17: 53,986,567 (GRCm39)	A208V	possibly damaging	Het
Skint5	C	T	4: 113,794,778 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc28a3	A	T	13: 58,706,451 (GRCm39)	S597T	probably benign	Het
Slc4a5	T	A	6: 83,248,085 (GRCm39)		probably benign	Het
Slc52a3	A	G	2: 151,847,448 (GRCm39)		probably benign	Het
Stac3	A	G	10: 127,339,768 (GRCm39)	D158G	probably benign	Het
Tdo2	T	C	3: 81,871,224 (GRCm39)		probably benign	Het
Usp25	A	T	16: 76,912,335 (GRCm39)	E1018V	probably damaging	Het
Vmn1r46	T	A	6: 89,953,886 (GRCm39)	F245Y	probably damaging	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
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
R8559:Or14j6	UTSW	17	38,214,719 (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

Posted On

2015-04-16