Mutagenetix > Incidental Mutation

Incidental Mutation 'R6212:Or7e165'

503513

Institutional Source

Beutler Lab

Gene Symbol

Or7e165

Ensembl Gene

ENSMUSG00000058659

Gene Name

olfactory receptor family 7 subfamily E member 165

Synonyms

Olfr58, MOR146-7P, IG6, GA_x6K02T2PVTD-13523015-13523944, MOR146-3

MMRRC Submission

044345-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19691579-19695360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19694585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 52 (D52G)

Ref Sequence

ENSEMBL: ENSMUSP00000150309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000212363] [ENSMUST00000215112]

AlphaFold

Q7TRF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000212363
AA Change: D14G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215112
AA Change: D52G

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

Meta Mutation Damage Score

0.3321

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

96% (52/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,172,505 (GRCm39)	I116N	probably damaging	Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Ap3b1	C	A	13: 94,630,207 (GRCm39)	H821N	unknown	Het
Apex1	C	T	14: 51,164,350 (GRCm39)	P264S	probably benign	Het
Arhgap27	T	C	11: 103,251,698 (GRCm39)	Y10C	probably damaging	Het
Bag6	A	G	17: 35,359,278 (GRCm39)	T208A	probably benign	Het
Brd4	G	T	17: 32,421,423 (GRCm39)	P771Q	probably damaging	Het
Capn3	A	G	2: 120,307,667 (GRCm39)	S69G	probably benign	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,800,888 (GRCm39)	H2519R	probably benign	Het
Chd8	T	A	14: 52,439,155 (GRCm39)	N48I	probably damaging	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Dnhd1	C	T	7: 105,353,255 (GRCm39)	P2803S	probably damaging	Het
Dusp26	G	A	8: 31,584,252 (GRCm39)	D120N	probably damaging	Het
Epha6	T	C	16: 60,245,719 (GRCm39)	H160R	possibly damaging	Het
Erg	C	T	16: 95,180,022 (GRCm39)	V215I	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gabbr2	T	C	4: 46,681,189 (GRCm39)	D124G	probably damaging	Het
Gapdh	T	C	6: 125,139,661 (GRCm39)	H203R	probably damaging	Het
Garin1b	T	C	6: 29,319,373 (GRCm39)	L59P	probably damaging	Het
Ggnbp2	T	C	11: 84,727,503 (GRCm39)	M42V	possibly damaging	Het
Hk2	C	A	6: 82,705,823 (GRCm39)	A827S	probably benign	Het
Hoxa5	T	C	6: 52,179,694 (GRCm39)	E227G	probably damaging	Het
Itgax	C	A	7: 127,729,504 (GRCm39)	H31N	possibly damaging	Het
Itgax	A	G	7: 127,747,025 (GRCm39)	D942G	probably benign	Het
Kars1	A	T	8: 112,726,829 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,702 (GRCm39)	F1739L	probably damaging	Het
Map2k1	A	T	9: 64,112,445 (GRCm39)	L155Q	probably damaging	Het
Mcf2l	A	T	8: 13,067,431 (GRCm39)	D1013V	probably damaging	Het
Mocs1	G	A	17: 49,742,224 (GRCm39)	G118S	probably damaging	Het
Ncam2	T	C	16: 81,229,650 (GRCm39)	S37P	probably damaging	Het
Nfxl1	A	G	5: 72,673,553 (GRCm39)		probably null	Het
Nodal	C	T	10: 61,259,300 (GRCm39)	H246Y	possibly damaging	Het
Nwd1	G	A	8: 73,421,950 (GRCm39)	V999M	possibly damaging	Het
Oaz3	T	A	3: 94,342,375 (GRCm39)	T139S	probably benign	Het
Or6z6	T	C	7: 6,491,367 (GRCm39)		probably null	Het
P3h3	T	A	6: 124,822,606 (GRCm39)	T522S	probably benign	Het
Pgap1	A	G	1: 54,554,052 (GRCm39)	F457S	probably damaging	Het
Prkce	T	C	17: 86,866,729 (GRCm39)	Y530H	probably damaging	Het
Ptpn3	A	T	4: 57,270,070 (GRCm39)	C31S	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb6e	T	A	13: 34,025,220 (GRCm39)	N24Y	probably damaging	Het
Slc4a8	T	C	15: 100,709,452 (GRCm39)	V937A	possibly damaging	Het
Smgc	T	A	15: 91,734,830 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,148,861 (GRCm39)	N2027K	probably damaging	Het
Stra6l	T	C	4: 45,884,664 (GRCm39)	Y565H	probably benign	Het
Tmem262	A	G	19: 6,130,668 (GRCm39)	E62G	possibly damaging	Het
Tnrc6a	T	A	7: 122,742,965 (GRCm39)		probably null	Het
Txlnb	T	C	10: 17,675,057 (GRCm39)	I70T	probably damaging	Het
Whrn	A	T	4: 63,412,923 (GRCm39)	L25*	probably null	Het
Zfp326	T	A	5: 106,058,097 (GRCm39)	V412E	probably damaging	Het
Zfp831	A	G	2: 174,487,661 (GRCm39)	R779G	possibly damaging	Het

Other mutations in Or7e165

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Or7e165	APN	9	19,695,245 (GRCm39)	splice site	probably null
IGL01815:Or7e165	APN	9	19,695,311 (GRCm39)	missense	probably damaging	1.00
IGL02408:Or7e165	APN	9	19,694,711 (GRCm39)	missense	probably benign	0.31
IGL02644:Or7e165	APN	9	19,695,010 (GRCm39)	missense	probably benign	0.30
IGL03243:Or7e165	APN	9	19,694,564 (GRCm39)	missense	probably damaging	0.99
R0603:Or7e165	UTSW	9	19,695,235 (GRCm39)	missense	probably damaging	1.00
R2363:Or7e165	UTSW	9	19,694,892 (GRCm39)	missense	probably benign	0.00
R2570:Or7e165	UTSW	9	19,695,305 (GRCm39)	missense	probably damaging	1.00
R3890:Or7e165	UTSW	9	19,695,011 (GRCm39)	missense	probably benign	0.03
R3892:Or7e165	UTSW	9	19,695,011 (GRCm39)	missense	probably benign	0.03
R4163:Or7e165	UTSW	9	19,695,086 (GRCm39)	missense	possibly damaging	0.69
R4610:Or7e165	UTSW	9	19,694,442 (GRCm39)	nonsense	probably null
R4691:Or7e165	UTSW	9	19,694,678 (GRCm39)	missense	probably benign	0.33
R4707:Or7e165	UTSW	9	19,694,596 (GRCm39)	missense	probably damaging	1.00
R4825:Or7e165	UTSW	9	19,694,872 (GRCm39)	missense	possibly damaging	0.74
R4950:Or7e165	UTSW	9	19,695,027 (GRCm39)	missense	probably benign
R5185:Or7e165	UTSW	9	19,694,672 (GRCm39)	missense	probably damaging	1.00
R5202:Or7e165	UTSW	9	19,694,514 (GRCm39)	missense	possibly damaging	0.46
R5439:Or7e165	UTSW	9	19,695,161 (GRCm39)	missense	probably damaging	1.00
R5669:Or7e165	UTSW	9	19,695,053 (GRCm39)	missense	probably benign	0.02
R5672:Or7e165	UTSW	9	19,694,507 (GRCm39)	missense	possibly damaging	0.92
R6038:Or7e165	UTSW	9	19,694,858 (GRCm39)	missense	probably benign
R6038:Or7e165	UTSW	9	19,694,858 (GRCm39)	missense	probably benign
R6415:Or7e165	UTSW	9	19,695,044 (GRCm39)	missense	probably damaging	1.00
R7385:Or7e165	UTSW	9	19,694,507 (GRCm39)	missense	possibly damaging	0.92
R7669:Or7e165	UTSW	9	19,694,839 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ACTGCTTAGTTCTCTACAATGGTC -3'
(R):5'- TGCCAGTAGAAAGCTGTCC -3'

Sequencing Primer
(F):5'- TTTCTTTTCAAAAGATGTCCTAGCC -3'
(R):5'- TGCCAGTAGAAAGCTGTCCATACAC -3'

Posted On

2018-02-27