Mutagenetix > Incidental Mutation

Incidental Mutation 'R0603:Or7e165'

55553

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

038792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19691579-19695360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19695235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 269 (R269W)

Ref Sequence

ENSEMBL: ENSMUSP00000150309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079660] [ENSMUST00000212363] [ENSMUST00000215112]

AlphaFold

Q7TRF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000079660
AA Change: R269W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078603
Gene: ENSMUSG00000063842
AA Change: R269W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	303	8.3e-8	PFAM
Pfam:7tm_1	41	290	4.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212363

Predicted Effect

probably damaging
Transcript: ENSMUST00000215112
AA Change: R269W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc7	A	G	5: 122,578,233 (GRCm39)	N406S	probably benign	Het
Arhgap4	C	T	X: 72,950,389 (GRCm39)	R54Q	probably damaging	Het
Asb15	T	A	6: 24,556,556 (GRCm39)	I17N	probably damaging	Het
Atp8a1	T	C	5: 67,914,039 (GRCm39)		probably null	Het
Caprin1	A	G	2: 103,627,146 (GRCm39)	V47A	probably benign	Het
Col4a2	T	C	8: 11,464,779 (GRCm39)	V348A	probably benign	Het
Disp2	A	G	2: 118,622,487 (GRCm39)	K1073R	probably damaging	Het
Dmxl2	G	A	9: 54,313,190 (GRCm39)	H1686Y	possibly damaging	Het
Dzank1	C	T	2: 144,353,432 (GRCm39)	V152I	probably benign	Het
Elp1	A	T	4: 56,792,105 (GRCm39)	I221N	possibly damaging	Het
Evl	T	A	12: 108,614,681 (GRCm39)	I25N	probably damaging	Het
Fam117a	A	G	11: 95,271,699 (GRCm39)	K424E	probably damaging	Het
Gm17732	C	T	18: 62,795,823 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,820,480 (GRCm39)	I659T	possibly damaging	Het
Hectd4	T	A	5: 121,442,400 (GRCm39)	V1280E	possibly damaging	Het
Irs4	T	C	X: 140,508,071 (GRCm39)	T42A	probably damaging	Het
Kdm4a	C	T	4: 117,999,708 (GRCm39)	V905I	probably damaging	Het
Lmtk3	T	A	7: 45,444,980 (GRCm39)		probably benign	Het
Lsp1	G	A	7: 142,043,115 (GRCm39)	R221H	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mmut	A	T	17: 41,258,057 (GRCm39)	I408F	probably damaging	Het
Nckap1	A	T	2: 80,343,073 (GRCm39)	V942E	probably benign	Het
Neto1	T	A	18: 86,491,785 (GRCm39)	C229S	possibly damaging	Het
Nipal2	A	G	15: 34,650,544 (GRCm39)	I63T	probably damaging	Het
Or11g2	T	C	14: 50,855,967 (GRCm39)	I96T	probably damaging	Het
Or1af1	G	A	2: 37,110,118 (GRCm39)	V206I	probably damaging	Het
Or4k49	A	T	2: 111,495,225 (GRCm39)	Y218F	probably damaging	Het
Or8g36	C	A	9: 39,422,810 (GRCm39)	V69F	possibly damaging	Het
Pgpep1	T	C	8: 71,103,283 (GRCm39)	E120G	probably benign	Het
Pkhd1	A	T	1: 20,187,397 (GRCm39)	M3637K	probably benign	Het
Pkm	T	C	9: 59,573,164 (GRCm39)	V58A	probably damaging	Het
Ppp2r1b	C	A	9: 50,772,985 (GRCm39)	T154K	probably damaging	Het
Rgs18	T	A	1: 144,631,818 (GRCm39)	D98V	possibly damaging	Het
Rsph6a	G	T	7: 18,799,886 (GRCm39)	A506S	possibly damaging	Het
Selenop	T	A	15: 3,305,183 (GRCm39)	V113E	probably damaging	Het
Slc6a11	G	A	6: 114,221,851 (GRCm39)	V514M	probably benign	Het
Srsf9	C	T	5: 115,470,696 (GRCm39)	S132L	probably damaging	Het
Tchh	G	A	3: 93,351,088 (GRCm39)	R176H	possibly damaging	Het
Tcp11	T	C	17: 28,286,784 (GRCm39)	N405S	probably damaging	Het
Tle1	A	C	4: 72,036,584 (GRCm39)	D760E	probably damaging	Het
Tmem178	A	G	17: 81,252,488 (GRCm39)	D124G	possibly damaging	Het
Trabd	G	A	15: 88,966,929 (GRCm39)	E118K	probably damaging	Het
Ttc39a	A	G	4: 109,283,499 (GRCm39)	D115G	probably damaging	Het
Uaca	T	A	9: 60,778,379 (GRCm39)	M920K	possibly damaging	Het
Uba2	A	T	7: 33,861,038 (GRCm39)	M5K	probably damaging	Het
Unc5c	C	T	3: 141,476,863 (GRCm39)	P343L	probably damaging	Het
Wdhd1	T	C	14: 47,501,043 (GRCm39)	D453G	probably damaging	Het
Wfdc8	A	G	2: 164,445,145 (GRCm39)	Y157H	probably damaging	Het
Zbbx	T	G	3: 74,985,757 (GRCm39)	K432Q	probably benign	Het
Zeb2	G	A	2: 44,907,438 (GRCm39)	T169M	probably benign	Het
Zfp956	A	G	6: 47,932,962 (GRCm39)	E79G	probably damaging	Het
Zzef1	G	A	11: 72,708,895 (GRCm39)	V165I	probably benign	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
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
R6212:Or7e165	UTSW	9	19,694,585 (GRCm39)	missense	probably damaging	1.00
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'- AGCATCATTGTTGGATTCCTCCCTG -3'
(R):5'- AGTTGGACAAGTGCATCAAGATAGACC -3'

Sequencing Primer
(F):5'- GGATTCCTCCCTGCCTCAG -3'
(R):5'- GAACTGCTTCATTTTAAATGCCACC -3'

Posted On

2013-07-11