Mutagenetix > Incidental Mutation

Incidental Mutation 'R0781:Or51e2'

99087

Institutional Source

Beutler Lab

Gene Symbol

Or51e2

Ensembl Gene

ENSMUSG00000043366

Gene Name

olfactory receptor family 51 subfamily E member 2

Synonyms

PSGR, MOL2.3, RA1c, MOR18-2, 4633402A21Rik, Olfr78, GA_x6K02T2PBJ9-5459657-5458695

MMRRC Submission

038961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102389928-102408678 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 102392214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060187] [ENSMUST00000168007] [ENSMUST00000217123]

AlphaFold

Q8VBV9

Predicted Effect

probably benign
Transcript: ENSMUST00000060187

SMART Domains

Protein: ENSMUSP00000058085
Gene: ENSMUSG00000043366

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	309	1.9e-111	PFAM
Pfam:7TM_GPCR_Srsx	34	252	1.4e-8	PFAM
Pfam:7tm_1	40	291	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168007

SMART Domains

Protein: ENSMUSP00000133255
Gene: ENSMUSG00000043366

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	34	252	1.4e-8	PFAM
Pfam:7tm_1	40	291	1.4e-25	PFAM
Pfam:7tm_4	140	284	2.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209365

Predicted Effect

probably benign
Transcript: ENSMUST00000217123

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.2%

Validation Efficiency

97% (67/69)

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]
PHENOTYPE: Targeted inactivation of this gene leads to alterations in olfactory sensory neuron development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,935,180 (GRCm39)	A98S	probably benign	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Ankrd55	A	G	13: 112,517,767 (GRCm39)		probably benign	Het
Arhgef39	T	C	4: 43,496,834 (GRCm39)	T327A	probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Csmd1	A	C	8: 15,971,174 (GRCm39)	I3047S	probably benign	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gdf7	C	A	12: 8,351,555 (GRCm39)		probably benign	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Iqcf4	T	C	9: 106,445,860 (GRCm39)	I96V	probably benign	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Itpr3	C	T	17: 27,329,529 (GRCm39)	H1518Y	probably benign	Het
Kdm5d	T	A	Y: 910,539 (GRCm39)	L250H	probably damaging	Het
Kntc1	C	T	5: 123,937,965 (GRCm39)		probably benign	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nudt7	G	A	8: 114,862,111 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Opa3	A	G	7: 18,962,524 (GRCm39)		probably benign	Het
Or5ac15	A	T	16: 58,940,187 (GRCm39)	V82D	probably damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp6	G	T	9: 59,556,847 (GRCm39)	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkhd1	A	T	1: 20,187,708 (GRCm39)	N3533K	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Ppef2	T	C	5: 92,392,689 (GRCm39)	K261R	probably benign	Het
Prdm14	A	G	1: 13,184,585 (GRCm39)	S529P	probably damaging	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Slc26a3	A	T	12: 31,515,812 (GRCm39)	I571F	possibly damaging	Het
Slc5a5	A	T	8: 71,342,864 (GRCm39)	M232K	probably benign	Het
Slc9a1	T	A	4: 133,097,859 (GRCm39)	M2K	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Ss18l1	G	A	2: 179,697,647 (GRCm39)	S177N	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Tmem108	C	T	9: 103,361,889 (GRCm39)	V566M	probably damaging	Het
Trmu	C	A	15: 85,763,604 (GRCm39)	C9*	probably null	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Vps13c	T	A	9: 67,879,285 (GRCm39)	Y3409N	probably damaging	Het
Xrn1	T	A	9: 95,873,322 (GRCm39)	N695K	probably benign	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	Het

Other mutations in Or51e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Or51e2	APN	7	102,391,469 (GRCm39)	missense	probably damaging	1.00
IGL02071:Or51e2	APN	7	102,391,355 (GRCm39)	missense	probably damaging	1.00
IGL03166:Or51e2	APN	7	102,391,254 (GRCm39)	missense	probably benign	0.00
R0415:Or51e2	UTSW	7	102,391,294 (GRCm39)	missense	probably benign	0.02
R1676:Or51e2	UTSW	7	102,391,605 (GRCm39)	missense	probably damaging	1.00
R1858:Or51e2	UTSW	7	102,391,571 (GRCm39)	missense	probably damaging	1.00
R2391:Or51e2	UTSW	7	102,391,581 (GRCm39)	missense	possibly damaging	0.63
R4542:Or51e2	UTSW	7	102,391,850 (GRCm39)	missense	probably damaging	1.00
R4671:Or51e2	UTSW	7	102,391,808 (GRCm39)	missense	probably damaging	0.98
R5400:Or51e2	UTSW	7	102,391,637 (GRCm39)	missense	probably benign	0.00
R7015:Or51e2	UTSW	7	102,391,651 (GRCm39)	missense	probably damaging	1.00
R7133:Or51e2	UTSW	7	102,391,524 (GRCm39)	missense	probably damaging	1.00
R7247:Or51e2	UTSW	7	102,391,551 (GRCm39)	missense	probably damaging	0.99
R8259:Or51e2	UTSW	7	102,392,034 (GRCm39)	missense	probably damaging	1.00
R8772:Or51e2	UTSW	7	102,392,210 (GRCm39)	start gained	probably benign
R9095:Or51e2	UTSW	7	102,391,473 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

Posted On

2014-01-10