Mutagenetix > Incidental Mutation

Incidental Mutation 'R5759:Or7e170'

445193

Institutional Source

Beutler Lab

Gene Symbol

Or7e170

Ensembl Gene

ENSMUSG00000063842

Gene Name

olfactory receptor family 7 subfamily E member 170

Synonyms

Olfr862, MOR146-1, GA_x6K02T2PVTD-13624132-13623212

MMRRC Submission

043361-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19794679-19795969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19795484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

Ref Sequence

ENSEMBL: ENSMUSP00000078603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073765] [ENSMUST00000079660]

AlphaFold

Q8VFJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000073765
AA Change: V39A

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073437
Gene: ENSMUSG00000063842
AA Change: V39A

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:7tm_4	31	306	3.1e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	282	1.3e-7	PFAM
Pfam:7tm_1	41	290	5.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079660
AA Change: V39A

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000078603
Gene: ENSMUSG00000063842
AA Change: V39A

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

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.2%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,419 (GRCm39)	S1203P	probably benign	Het
Adamts1	A	G	16: 85,594,936 (GRCm39)	V341A	possibly damaging	Het
Arf2	G	A	11: 103,874,459 (GRCm39)	G144S	probably benign	Het
Atr	A	G	9: 95,756,455 (GRCm39)	N862D	probably benign	Het
Cep295nl	T	C	11: 118,224,472 (GRCm39)	H124R	possibly damaging	Het
Chd6	C	T	2: 160,825,682 (GRCm39)	V1141I	possibly damaging	Het
Chst5	C	A	8: 112,616,842 (GRCm39)	K259N	probably benign	Het
Dchs1	T	A	7: 105,413,383 (GRCm39)	D1144V	probably damaging	Het
Dmxl2	T	C	9: 54,282,792 (GRCm39)	Y2795C	probably damaging	Het
Dnah7b	A	G	1: 46,316,280 (GRCm39)	N3131S	probably damaging	Het
Dnah7c	G	A	1: 46,654,527 (GRCm39)	G1436R	probably damaging	Het
Emp2	T	A	16: 10,102,374 (GRCm39)	Y146F	probably damaging	Het
Exoc6	C	T	19: 37,562,189 (GRCm39)	Q148*	probably null	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fam186b	T	G	15: 99,177,598 (GRCm39)	Y576S	probably benign	Het
Fras1	T	C	5: 96,857,775 (GRCm39)	V2023A	probably benign	Het
Grm5	A	C	7: 87,675,808 (GRCm39)	M441L	probably damaging	Het
Hhatl	A	G	9: 121,617,343 (GRCm39)	Y297H	probably damaging	Het
Ifi30	A	G	8: 71,219,188 (GRCm39)		probably benign	Het
Ing2	G	T	8: 48,122,040 (GRCm39)	N169K	possibly damaging	Het
Kat6a	T	G	8: 23,428,028 (GRCm39)	S1128A	probably benign	Het
Madd	T	C	2: 90,992,420 (GRCm39)	E1041G	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mfsd5	G	A	15: 102,189,513 (GRCm39)	G295D	possibly damaging	Het
Minar1	A	T	9: 89,483,125 (GRCm39)	N757K	probably benign	Het
Mmp20	T	A	9: 7,628,378 (GRCm39)		probably null	Het
Mybphl	T	C	3: 108,282,070 (GRCm39)	V100A	probably benign	Het
Ndfip2	T	A	14: 105,539,750 (GRCm39)		probably null	Het
Or7e175	T	A	9: 20,049,228 (GRCm39)	V272E	probably benign	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Phf19	T	G	2: 34,787,135 (GRCm39)	D443A	probably damaging	Het
Piezo1	A	G	8: 123,234,394 (GRCm39)	V84A	probably damaging	Het
Septin9	A	G	11: 117,243,094 (GRCm39)	I94V	probably benign	Het
Slc35a1	C	A	4: 34,675,032 (GRCm39)	V132L	probably benign	Het
Sntg1	G	A	1: 8,484,494 (GRCm39)	S442L	probably benign	Het
Tcf25	A	G	8: 124,108,196 (GRCm39)	T84A	probably benign	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tmem106b	A	G	6: 13,075,041 (GRCm39)	E76G	probably damaging	Het
Tnk2	C	T	16: 32,499,482 (GRCm39)	P932S	probably benign	Het
Trib1	G	A	15: 59,526,350 (GRCm39)	V307I	probably benign	Het
Trib3	A	T	2: 152,185,215 (GRCm39)	D11E	probably benign	Het
Trim34b	T	C	7: 103,980,640 (GRCm39)	S243P	possibly damaging	Het
Vmn2r50	A	G	7: 9,781,905 (GRCm39)	I280T	probably damaging	Het
Zfp1010	A	T	2: 176,956,765 (GRCm39)	C244*	probably null	Het
Zfp445	G	T	9: 122,682,211 (GRCm39)	Q577K	probably benign	Het
Zfp599	T	C	9: 22,160,957 (GRCm39)	K403E	probably damaging	Het

Other mutations in Or7e170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Or7e170	APN	9	19,794,844 (GRCm39)	nonsense	probably null
IGL01636:Or7e170	APN	9	19,795,484 (GRCm39)	missense	probably benign	0.14
IGL01765:Or7e170	APN	9	19,795,247 (GRCm39)	missense	possibly damaging	0.71
IGL01967:Or7e170	APN	9	19,794,885 (GRCm39)	missense	probably damaging	0.97
IGL03145:Or7e170	APN	9	19,794,735 (GRCm39)	missense	possibly damaging	0.93
IGL03222:Or7e170	APN	9	19,795,495 (GRCm39)	nonsense	probably null
R0117:Or7e170	UTSW	9	19,795,595 (GRCm39)	missense	probably damaging	0.96
R0662:Or7e170	UTSW	9	19,795,248 (GRCm39)	missense	probably benign	0.32
R2399:Or7e170	UTSW	9	19,795,220 (GRCm39)	missense	probably damaging	0.98
R4224:Or7e170	UTSW	9	19,794,896 (GRCm39)	missense	probably benign	0.44
R4572:Or7e170	UTSW	9	19,795,275 (GRCm39)	missense	probably benign
R5607:Or7e170	UTSW	9	19,795,272 (GRCm39)	missense	probably benign	0.16
R5741:Or7e170	UTSW	9	19,794,857 (GRCm39)	missense	possibly damaging	0.92
R6237:Or7e170	UTSW	9	19,795,365 (GRCm39)	missense	probably damaging	1.00
R6434:Or7e170	UTSW	9	19,795,141 (GRCm39)	nonsense	probably null
R7075:Or7e170	UTSW	9	19,795,359 (GRCm39)	missense	probably benign	0.16
R7534:Or7e170	UTSW	9	19,795,472 (GRCm39)	missense	probably benign	0.16
R7735:Or7e170	UTSW	9	19,795,410 (GRCm39)	missense	probably damaging	0.99
R8415:Or7e170	UTSW	9	19,795,409 (GRCm39)	missense	possibly damaging	0.95
R9246:Or7e170	UTSW	9	19,795,686 (GRCm39)	start gained	probably benign
R9438:Or7e170	UTSW	9	19,795,083 (GRCm39)	missense	probably benign
R9795:Or7e170	UTSW	9	19,795,347 (GRCm39)	missense	probably benign
Z1177:Or7e170	UTSW	9	19,794,963 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAGGCTGTCCATACACCC -3'
(R):5'- ACCAGTTACCTCTACAGTGCTTAATTC -3'

Sequencing Primer
(F):5'- CTGAGTTAGGCAGGCTGC -3'
(R):5'- TACCTCTACAGTGCTTAATTCAACAC -3'

Posted On

2016-11-21