Mutagenetix > Incidental Mutation

Incidental Mutation 'R4683:Or14j6'

350140

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

041935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38214439-38215410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38215039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 201 (T201A)

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: T201A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075669
Gene: ENSMUSG00000058114
AA Change: T201A

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: T201A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,709 (GRCm39)	V56A	probably damaging	Het
Acyp1	A	G	12: 85,325,717 (GRCm39)		probably benign	Het
Adgrb1	A	T	15: 74,459,963 (GRCm39)	K532I	probably damaging	Het
Ahrr	T	A	13: 74,372,885 (GRCm39)		silent	Het
Asz1	T	C	6: 18,055,541 (GRCm39)		probably benign	Het
AW554918	T	C	18: 25,472,852 (GRCm39)	Y219H	probably benign	Het
Ccno	C	A	13: 113,125,543 (GRCm39)		probably null	Het
Cdh17	A	T	4: 11,817,036 (GRCm39)	N816Y	possibly damaging	Het
Clca4a	C	T	3: 144,660,701 (GRCm39)	V708I	probably damaging	Het
Col6a3	T	A	1: 90,701,179 (GRCm39)	Y2579F	unknown	Het
Col6a4	A	G	9: 105,957,329 (GRCm39)	V165A	probably benign	Het
Csf1r	T	A	18: 61,257,983 (GRCm39)	C651S	probably damaging	Het
Cyp4f14	T	C	17: 33,126,985 (GRCm39)	D315G	probably null	Het
Def6	A	G	17: 28,436,609 (GRCm39)	D91G	probably damaging	Het
Dmxl1	T	G	18: 50,011,088 (GRCm39)	S1082A	probably damaging	Het
Dnah2	A	T	11: 69,349,768 (GRCm39)	Y2392N	probably damaging	Het
Dsg4	T	C	18: 20,594,466 (GRCm39)	S532P	probably benign	Het
Efr3a	C	A	15: 65,691,650 (GRCm39)	S126R	probably damaging	Het
Gab1	A	C	8: 81,515,261 (GRCm39)	H352Q	probably benign	Het
Gm1110	A	G	9: 26,831,890 (GRCm39)	M87T	probably damaging	Het
Greb1	C	T	12: 16,761,774 (GRCm39)	M535I	possibly damaging	Het
Greb1l	T	A	18: 10,529,563 (GRCm39)		probably null	Het
Gucy2d	T	C	7: 98,102,650 (GRCm39)	C487R	probably benign	Het
H1f7	A	T	15: 98,154,921 (GRCm39)	I76N	probably damaging	Het
Lrrc2	A	T	9: 110,791,614 (GRCm39)	H122L	possibly damaging	Het
Mrps22	A	T	9: 98,480,359 (GRCm39)		probably null	Het
Mxd3	T	C	13: 55,473,613 (GRCm39)	T202A	probably benign	Het
Neb	T	C	2: 52,134,074 (GRCm39)	H3303R	possibly damaging	Het
Nup133	G	A	8: 124,657,721 (GRCm39)	R405*	probably null	Het
Or13a19	T	C	7: 139,902,681 (GRCm39)	L23P	probably benign	Het
Pard3b	T	C	1: 62,255,675 (GRCm39)	Y629H	probably benign	Het
Pcnx1	A	G	12: 82,033,446 (GRCm39)	D1781G	probably benign	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Pcsk9	A	T	4: 106,316,092 (GRCm39)	I117N	possibly damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Pfkfb2	T	A	1: 130,634,221 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,114,901 (GRCm39)	E1456G	possibly damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Sh2b2	C	T	5: 136,260,574 (GRCm39)	C214Y	probably damaging	Het
Slc52a2	C	A	15: 76,424,433 (GRCm39)	P224T	probably damaging	Het
Slf2	C	G	19: 44,923,920 (GRCm39)	R245G	probably benign	Het
Sox5	T	C	6: 143,779,193 (GRCm39)	S648G	probably damaging	Het
Stk36	T	A	1: 74,673,344 (GRCm39)	I1079N	probably benign	Het
Stxbp3	T	C	3: 108,708,188 (GRCm39)	D371G	probably damaging	Het
Trnau1ap	A	T	4: 132,049,063 (GRCm39)	Y47N	probably damaging	Het
Ubr5	C	T	15: 38,038,211 (GRCm39)	R316H	probably damaging	Het
Vmn1r230	C	T	17: 21,067,515 (GRCm39)	R235C	probably benign	Het
Wnt10a	C	T	1: 74,842,296 (GRCm39)	H93Y	unknown	Het
Zfp1005	T	A	2: 150,108,390 (GRCm39)	H50Q	possibly damaging	Het
Zfp52	A	G	17: 21,781,769 (GRCm39)	D539G	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
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

Predicted Primers

PCR Primer
(F):5'- AGAAAGTGCACTTGGGCTG -3'
(R):5'- GGTCTAAAGCAGTTGGTGAGTC -3'

Sequencing Primer
(F):5'- CACTTGGGCTGTGGCAG -3'
(R):5'- CTAAAGCAGTTGGTGAGTCTGAGG -3'

Posted On

2015-10-08