Mutagenetix > Incidental Mutation

Incidental Mutation 'R1482:Or7e176'

164450

Institutional Source

Beutler Lab

Gene Symbol

Or7e176

Ensembl Gene

ENSMUSG00000066897

Gene Name

olfactory receptor family 7 subfamily E member 176

Synonyms

Olfr872, GA_x6K02T2PVTD-13999915-14000844, MOR145-3

MMRRC Submission

039535-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20148458-20172209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20172020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 295 (V295I)

Ref Sequence

ENSEMBL: ENSMUSP00000083665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086474]

AlphaFold

E9PVW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086474
AA Change: V295I

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083665
Gene: ENSMUSG00000066897
AA Change: V295I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	45	321	3.8e-45	PFAM
Pfam:7TM_GPCR_Srsx	49	310	1.4e-9	PFAM
Pfam:7tm_1	55	304	4.2e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212574

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,767,192 (GRCm39)	D260N	probably benign	Het
Ankef1	A	T	2: 136,392,078 (GRCm39)	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aqp6	A	T	15: 99,502,188 (GRCm39)	*294C	probably null	Het
Baz2a	T	A	10: 127,944,877 (GRCm39)	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,404,265 (GRCm39)	D151G	probably damaging	Het
Cabp5	T	A	7: 13,132,267 (GRCm39)	L12*	probably null	Het
Cachd1	T	C	4: 100,845,795 (GRCm39)	V993A	possibly damaging	Het
Cd44	G	A	2: 102,661,728 (GRCm39)	T306I	probably damaging	Het
Cdc20	A	T	4: 118,294,253 (GRCm39)	N22K	probably benign	Het
Cdc6	T	A	11: 98,807,807 (GRCm39)	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,503,725 (GRCm39)	D47G	probably damaging	Het
Csf2	T	C	11: 54,139,389 (GRCm39)	K65E	probably benign	Het
Cul9	T	C	17: 46,819,473 (GRCm39)	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,296,888 (GRCm39)	R144L	possibly damaging	Het
Dcpp2	C	T	17: 24,119,516 (GRCm39)	T110I	probably damaging	Het
Disp1	A	T	1: 182,868,038 (GRCm39)	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,016,831 (GRCm39)	G1562D	probably damaging	Het
Ecpas	T	C	4: 58,820,163 (GRCm39)	K1217E	possibly damaging	Het
Exoc3l2	C	A	7: 19,229,284 (GRCm39)	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,838,047 (GRCm39)	V364A	probably benign	Het
Fam151a	T	C	4: 106,602,876 (GRCm39)	L265P	probably damaging	Het
Fam151b	T	A	13: 92,586,674 (GRCm39)	Q253L	probably benign	Het
Fat1	G	A	8: 45,406,281 (GRCm39)	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,230,441 (GRCm39)	R274*	probably null	Het
Fgd4	G	T	16: 16,302,337 (GRCm39)	Q73K	probably benign	Het
Fth1	A	G	19: 9,962,217 (GRCm39)	T154A	probably benign	Het
Hgs	C	A	11: 120,370,866 (GRCm39)	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,456,207 (GRCm39)	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,552,635 (GRCm39)	V1204M	probably damaging	Het
Keg1	A	C	19: 12,696,185 (GRCm39)	H166P	probably damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,662,218 (GRCm39)	D74V	probably damaging	Het
Lman2	A	G	13: 55,499,218 (GRCm39)	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,662,451 (GRCm39)	I173T	possibly damaging	Het
Mov10	G	T	3: 104,711,862 (GRCm39)	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,486,847 (GRCm39)	A286S	probably damaging	Het
Mtmr10	A	G	7: 63,963,997 (GRCm39)	Y244C	probably damaging	Het
Nbea	A	T	3: 55,987,414 (GRCm39)	C359S	probably damaging	Het
Nbr1	C	T	11: 101,463,667 (GRCm39)	T633I	probably benign	Het
Nepn	A	T	10: 52,276,512 (GRCm39)	T22S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,871,043 (GRCm39)	L342M	probably damaging	Het
Or2ag17	A	G	7: 106,389,540 (GRCm39)	F223L	probably benign	Het
Or52b2	T	A	7: 104,986,463 (GRCm39)	R153S	probably damaging	Het
Or6c205	T	A	10: 129,087,012 (GRCm39)	I203N	possibly damaging	Het
Oxnad1	T	C	14: 31,821,590 (GRCm39)		probably null	Het
Pard3b	A	T	1: 62,205,526 (GRCm39)	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960 (GRCm39)	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,139,512 (GRCm39)	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,456,331 (GRCm39)	D169G	probably damaging	Het
Scn3b	A	C	9: 40,190,792 (GRCm39)	D74A	probably damaging	Het
Setbp1	C	T	18: 79,130,050 (GRCm39)	D61N	probably damaging	Het
Setx	T	A	2: 29,053,004 (GRCm39)	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,056,082 (GRCm39)	W685C	probably damaging	Het
Vps8	A	G	16: 21,400,348 (GRCm39)	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,160,462 (GRCm39)	F699L	probably damaging	Het
Zfp616	T	A	11: 73,974,803 (GRCm39)	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,033,685 (GRCm39)	D307E	possibly damaging	Het
Zfp687	A	G	3: 94,914,844 (GRCm39)	F1219S	probably damaging	Het
Zfpm2	T	A	15: 40,962,687 (GRCm39)	D248E	probably damaging	Het

Other mutations in Or7e176

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01904:Or7e176	APN	9	20,171,586 (GRCm39)	missense	probably damaging	0.99
IGL02048:Or7e176	APN	9	20,171,784 (GRCm39)	missense	possibly damaging	0.79
IGL02232:Or7e176	APN	9	20,171,511 (GRCm39)	missense	probably damaging	1.00
IGL02314:Or7e176	APN	9	20,171,774 (GRCm39)	missense	probably benign	0.03
IGL03290:Or7e176	APN	9	20,171,556 (GRCm39)	missense	probably damaging	1.00
R0410:Or7e176	UTSW	9	20,171,797 (GRCm39)	missense	probably benign	0.03
R1521:Or7e176	UTSW	9	20,171,728 (GRCm39)	missense	possibly damaging	0.91
R4930:Or7e176	UTSW	9	20,171,313 (GRCm39)	missense	probably damaging	1.00
R5457:Or7e176	UTSW	9	20,171,574 (GRCm39)	missense	probably damaging	1.00
R5870:Or7e176	UTSW	9	20,171,874 (GRCm39)	missense	probably benign
R6141:Or7e176	UTSW	9	20,171,754 (GRCm39)	missense	probably benign	0.00
R7283:Or7e176	UTSW	9	20,171,555 (GRCm39)	missense	probably damaging	0.98
R8691:Or7e176	UTSW	9	20,171,747 (GRCm39)	missense	probably benign	0.36
R8882:Or7e176	UTSW	9	20,171,256 (GRCm39)	missense	probably benign	0.06
R9556:Or7e176	UTSW	9	20,171,651 (GRCm39)	missense	probably benign	0.00
R9618:Or7e176	UTSW	9	20,171,639 (GRCm39)	missense	possibly damaging	0.80
R9752:Or7e176	UTSW	9	20,171,204 (GRCm39)	missense	probably benign	0.10
X0025:Or7e176	UTSW	9	20,171,782 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCATCTGTCACCCTCTGCATTACAAAA -3'
(R):5'- GGTATTGGTGGAGTGGAATGAAAGCC -3'

Sequencing Primer
(F):5'- GCCAGTCTTGTGGACTCTCAG -3'
(R):5'- AGTGGAATGAAAGCCACAATAAC -3'

Posted On

2014-03-28