Mutagenetix > Incidental Mutation

Incidental Mutation 'R5202:Or7e165'

400905

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

042777-MU

Accession Numbers

Essential gene?

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

Stock #

R5202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19691579-19695360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19694514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 28 (F28L)

Ref Sequence

ENSEMBL: ENSMUSP00000150309 (fasta)

Gene Model

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

AlphaFold

Q7TRF6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079660
AA Change: F28L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078603
Gene: ENSMUSG00000063842
AA Change: F28L

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

possibly damaging
Transcript: ENSMUST00000215112
AA Change: F28L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,562,308 (GRCm39)	M312L	probably benign	Het
Adam7	C	A	14: 68,745,305 (GRCm39)	D640Y	possibly damaging	Het
Alcam	T	C	16: 52,094,599 (GRCm39)	Y384C	probably damaging	Het
Apob	A	G	12: 8,063,737 (GRCm39)	E289G	probably damaging	Het
Arhgap15	A	T	2: 43,953,869 (GRCm39)	R198S	probably benign	Het
Bbs2	G	T	8: 94,819,042 (GRCm39)	S109*	probably null	Het
Bfsp1	T	C	2: 143,668,891 (GRCm39)	S569G	probably benign	Het
Chst9	A	T	18: 15,586,296 (GRCm39)	I89N	probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Csde1	T	G	3: 102,947,250 (GRCm39)	D67E	probably damaging	Het
Csf2rb	T	G	15: 78,233,257 (GRCm39)	S855A	possibly damaging	Het
Cyp4a10	T	A	4: 115,389,812 (GRCm39)	D472E	probably damaging	Het
Cyp4f18	C	A	8: 72,762,940 (GRCm39)	R49L	probably benign	Het
Daam1	G	T	12: 71,991,048 (GRCm39)	V221L	unknown	Het
Dbr1	T	G	9: 99,465,944 (GRCm39)	D507E	probably benign	Het
Dhrs7c	A	G	11: 67,706,627 (GRCm39)	M188V	probably benign	Het
Dicer1	A	T	12: 104,660,990 (GRCm39)	L1688*	probably null	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
E2f3	G	A	13: 30,102,619 (GRCm39)	T91I	probably damaging	Het
Etaa1	A	T	11: 17,897,853 (GRCm39)	V157E	probably damaging	Het
Foxp2	A	T	6: 15,394,770 (GRCm39)	T157S	probably benign	Het
Frem2	A	G	3: 53,458,767 (GRCm39)	V2034A	probably benign	Het
Fzd10	T	C	5: 128,679,180 (GRCm39)	V300A	possibly damaging	Het
Gbf1	A	T	19: 46,256,893 (GRCm39)	M778L	probably benign	Het
Gm17472	T	A	6: 42,958,068 (GRCm39)	N112K	probably benign	Het
Gria4	T	C	9: 4,424,330 (GRCm39)	K845R	probably benign	Het
Hspa4l	T	A	3: 40,736,001 (GRCm39)	S541T	probably benign	Het
Igkv4-68	G	A	6: 69,281,926 (GRCm39)	R82C	probably damaging	Het
Itgb1	A	T	8: 129,446,491 (GRCm39)	I383F	probably damaging	Het
Kcnk12	T	A	17: 88,054,033 (GRCm39)	K210*	probably null	Het
Limch1	C	G	5: 67,150,516 (GRCm39)	D163E	probably damaging	Het
Mbd4	A	T	6: 115,826,363 (GRCm39)	D188E	probably damaging	Het
Myh9	C	T	15: 77,665,310 (GRCm39)		probably null	Het
Nbeal2	T	C	9: 110,473,734 (GRCm39)	E28G	probably damaging	Het
Nfatc4	A	G	14: 56,064,116 (GRCm39)	E201G	probably damaging	Het
Nrap	G	A	19: 56,323,583 (GRCm39)	H1330Y	probably damaging	Het
Nudt14	A	G	12: 112,898,648 (GRCm39)	S151P	probably damaging	Het
Or14c45	C	A	7: 86,176,324 (GRCm39)	R120S	probably damaging	Het
Or2ag2	T	A	7: 106,485,803 (GRCm39)	T74S	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr9	A	G	9: 95,442,163 (GRCm39)	D51G	probably damaging	Het
Pcgf5	T	A	19: 36,414,583 (GRCm39)	F80I	probably damaging	Het
Pkhd1	T	G	1: 20,617,565 (GRCm39)	S1007R	probably benign	Het
Rab30	T	C	7: 92,485,121 (GRCm39)	Y196H	probably benign	Het
Setd2	A	T	9: 110,380,298 (GRCm39)	D1371V	probably damaging	Het
Slc48a1	A	T	15: 97,688,581 (GRCm39)	I140F	possibly damaging	Het
Sorl1	A	G	9: 41,944,879 (GRCm39)	V882A	probably benign	Het
Sptbn2	G	T	19: 4,774,212 (GRCm39)	G88W	probably damaging	Het
Tdrd12	A	G	7: 35,189,455 (GRCm39)	V427A	possibly damaging	Het
Tekt2	T	C	4: 126,218,463 (GRCm39)	D69G	probably benign	Het
Tie1	C	T	4: 118,337,707 (GRCm39)	V463I	probably benign	Het
Tmem150c	G	T	5: 100,227,813 (GRCm39)	H217N	probably damaging	Het
Tnks2	G	A	19: 36,866,252 (GRCm39)	G1080R	probably damaging	Het
Ttll4	G	A	1: 74,727,011 (GRCm39)		probably null	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
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'- GAACAGTTCTCATGTATGAATGGTG -3'
(R):5'- TGTGCATGCAAGTTTATCAGC -3'

Sequencing Primer
(F):5'- GCTGGTTTACAAACATATAGGCATG -3'
(R):5'- CATGCAAGTTTATCAGCATTTTGGG -3'

Posted On

2016-07-06