Mutagenetix > Incidental Mutation

Incidental Mutation 'R8921:Or52e2'

679253

Institutional Source

Beutler Lab

Gene Symbol

Or52e2

Ensembl Gene

ENSMUSG00000051362

Gene Name

olfactory receptor family 52 subfamily E member 2

Synonyms

GA_x6K02T2PBJ9-5871256-5870303, MOR32-3, Olfr589

MMRRC Submission

068707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R8921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102803999-102804952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102804660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 98 (D98G)

Ref Sequence

ENSEMBL: ENSMUSP00000151739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061055] [ENSMUST00000218483]

AlphaFold

Q8VGV8

Predicted Effect

probably benign
Transcript: ENSMUST00000061055
AA Change: D98G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: D98G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	3.1e-132	PFAM
Pfam:7TM_GPCR_Srsx	37	171	1.5e-7	PFAM
Pfam:7tm_1	43	293	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218483
AA Change: D98G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,844,933 (GRCm39)	E52V	probably benign	Het
4930516K23Rik	G	A	7: 103,708,083 (GRCm39)	T242M	probably damaging	Het
Abcg5	T	A	17: 84,990,253 (GRCm39)	I17F	probably benign	Het
Adam25	T	A	8: 41,207,710 (GRCm39)	Y325*	probably null	Het
Adamts16	C	T	13: 70,939,910 (GRCm39)		probably benign	Het
Akr1b1	A	T	6: 34,289,639 (GRCm39)	V57E	probably benign	Het
Api5	A	G	2: 94,255,374 (GRCm39)	L267P	probably damaging	Het
Asap3	T	C	4: 135,963,726 (GRCm39)	Y329H	probably benign	Het
Atp13a4	C	T	16: 29,273,592 (GRCm39)	R442K		Het
Cadps2	T	C	6: 23,302,300 (GRCm39)	D1129G	probably benign	Het
Cd79b	T	A	11: 106,203,632 (GRCm39)	Q145L	probably benign	Het
Cdh23	C	T	10: 60,140,908 (GRCm39)	E3147K	probably damaging	Het
Cfap251	A	G	5: 123,424,481 (GRCm39)	D722G	possibly damaging	Het
Col4a4	A	G	1: 82,431,533 (GRCm39)	W1584R	unknown	Het
Cops8	T	C	1: 90,532,155 (GRCm39)	L46P	probably damaging	Het
Cpne1	T	C	2: 155,913,965 (GRCm39)	Y146C	probably benign	Het
Ctdnep1	T	A	11: 69,875,311 (GRCm39)	V80E	probably damaging	Het
Cttnbp2	A	G	6: 18,434,877 (GRCm39)	I327T	probably benign	Het
Cyp4a32	T	C	4: 115,468,460 (GRCm39)	V314A	probably damaging	Het
Dlgap3	C	A	4: 127,127,463 (GRCm39)	H710Q	probably damaging	Het
Dnah9	T	C	11: 65,802,747 (GRCm39)	M3448V	probably benign	Het
E030018B13Rik	C	A	7: 63,569,727 (GRCm39)	Q84K	unknown	Het
Efna5	A	G	17: 63,188,053 (GRCm39)	S25P	possibly damaging	Het
Egfl8	T	G	17: 34,833,751 (GRCm39)	T76P	probably damaging	Het
Endod1	A	G	9: 14,268,942 (GRCm39)	L181P	probably damaging	Het
Epha3	A	G	16: 63,472,838 (GRCm39)	L349P	possibly damaging	Het
Fam161b	T	A	12: 84,395,056 (GRCm39)	T553S	probably benign	Het
Fmnl1	T	C	11: 103,087,967 (GRCm39)	F981L	unknown	Het
Galr2	T	A	11: 116,173,973 (GRCm39)	V201E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Greb1l	T	C	18: 10,541,825 (GRCm39)	S1191P	probably benign	Het
Hmg20b	T	C	10: 81,184,821 (GRCm39)	R84G	probably damaging	Het
Inppl1	T	C	7: 101,472,593 (GRCm39)	D1234G	possibly damaging	Het
Insl5	A	G	4: 102,883,760 (GRCm39)	S54P	probably damaging	Het
Itpr1	T	A	6: 108,355,159 (GRCm39)	F483L	possibly damaging	Het
Kif21a	T	C	15: 90,855,930 (GRCm39)	E609G	probably benign	Het
Kpna7	A	T	5: 144,941,840 (GRCm39)	V150D	probably damaging	Het
L1td1	T	A	4: 98,622,175 (GRCm39)	C246S	possibly damaging	Het
Laptm4a	T	A	12: 8,988,139 (GRCm39)	M292K	possibly damaging	Het
Lefty2	C	G	1: 180,725,043 (GRCm39)	P258A	possibly damaging	Het
Map4k1	G	A	7: 28,701,052 (GRCm39)	V719M	probably damaging	Het
Nbas	T	A	12: 13,463,590 (GRCm39)	H1292Q	probably benign	Het
Nfkbia	C	T	12: 55,537,340 (GRCm39)	G250S	probably damaging	Het
Nkain3	T	C	4: 20,245,902 (GRCm39)	T163A	unknown	Het
Npcd	T	C	15: 79,713,163 (GRCm39)	E88G	probably benign	Het
Oas1f	A	T	5: 120,989,556 (GRCm39)	Y165F	probably benign	Het
Or10d4	T	A	9: 39,580,737 (GRCm39)	L128*	probably null	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Phtf2	T	C	5: 21,008,275 (GRCm39)	I135M	probably benign	Het
Pi4ka	T	C	16: 17,125,604 (GRCm39)	E1177G		Het
Polr3gl	A	T	3: 96,485,833 (GRCm39)	D214E	probably damaging	Het
Pramel25	C	T	4: 143,519,322 (GRCm39)	Q28*	probably null	Het
Pramel51	T	C	12: 88,143,952 (GRCm39)	E295G	probably benign	Het
Prkar1a	C	A	11: 109,556,744 (GRCm39)	Q275K	probably benign	Het
Ptprc	A	G	1: 138,054,039 (GRCm39)		probably null	Het
Pwwp2a	C	A	11: 43,596,344 (GRCm39)	P503Q	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,570,065 (GRCm39)	L1146S	probably benign	Het
Rara	C	A	11: 98,864,452 (GRCm39)	Q460K	unknown	Het
Rassf4	C	T	6: 116,638,897 (GRCm39)		probably benign	Het
Rere	A	G	4: 150,696,471 (GRCm39)	D492G	unknown	Het
Selenon	T	G	4: 134,268,153 (GRCm39)	K460T	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,241,988 (GRCm39)	T245A	probably benign	Het
Stat4	C	T	1: 52,144,892 (GRCm39)	A726V	probably benign	Het
Stim1	G	T	7: 102,070,597 (GRCm39)	V277L	probably damaging	Het
Strbp	A	G	2: 37,514,503 (GRCm39)		probably null	Het
Tln2	T	C	9: 67,174,105 (GRCm39)	Y860C	probably damaging	Het
Tmod4	T	A	3: 95,033,289 (GRCm39)		probably null	Het
Tpm3-rs7	T	C	14: 113,552,493 (GRCm39)	V129A	probably benign	Het
Trp53bp2	C	T	1: 182,273,971 (GRCm39)	P41S		Het
Tubal3	G	A	13: 3,983,428 (GRCm39)	D403N	probably damaging	Het
Zfp369	T	C	13: 65,444,044 (GRCm39)	S396P	possibly damaging	Het
Zfp976	G	A	7: 42,262,575 (GRCm39)	H422Y	possibly damaging	Het

Other mutations in Or52e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01955:Or52e2	APN	7	102,804,061 (GRCm39)	nonsense	probably null
IGL02059:Or52e2	APN	7	102,804,310 (GRCm39)	missense	probably benign	0.14
IGL02336:Or52e2	APN	7	102,804,772 (GRCm39)	missense	probably benign	0.09
IGL03355:Or52e2	APN	7	102,804,408 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Or52e2	UTSW	7	102,804,520 (GRCm39)	missense	probably benign
R0900:Or52e2	UTSW	7	102,804,520 (GRCm39)	missense	probably benign
R2250:Or52e2	UTSW	7	102,804,157 (GRCm39)	missense	probably damaging	1.00
R3500:Or52e2	UTSW	7	102,804,297 (GRCm39)	missense	probably damaging	1.00
R4756:Or52e2	UTSW	7	102,804,332 (GRCm39)	missense	probably benign	0.24
R4776:Or52e2	UTSW	7	102,804,621 (GRCm39)	missense	probably benign	0.40
R5022:Or52e2	UTSW	7	102,804,942 (GRCm39)	missense	probably benign
R5151:Or52e2	UTSW	7	102,804,593 (GRCm39)	missense	probably damaging	0.99
R5231:Or52e2	UTSW	7	102,804,175 (GRCm39)	missense	probably damaging	1.00
R5870:Or52e2	UTSW	7	102,804,948 (GRCm39)	missense	probably benign	0.00
R5973:Or52e2	UTSW	7	102,804,081 (GRCm39)	missense	possibly damaging	0.93
R6567:Or52e2	UTSW	7	102,804,135 (GRCm39)	missense	possibly damaging	0.94
R7095:Or52e2	UTSW	7	102,804,537 (GRCm39)	missense	probably damaging	1.00
R8214:Or52e2	UTSW	7	102,804,613 (GRCm39)	missense	probably damaging	1.00
R8915:Or52e2	UTSW	7	102,804,411 (GRCm39)	missense	probably damaging	1.00
R9258:Or52e2	UTSW	7	102,804,409 (GRCm39)	nonsense	probably null
R9679:Or52e2	UTSW	7	102,804,652 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGCCCTCACTAGCACAGC -3'
(R):5'- GGACTAGAGTCTCTTCACATCTGG -3'

Sequencing Primer
(F):5'- GCACAGCAATGCCAATCATAG -3'
(R):5'- CTAGAGTCTCTTCACATCTGGATTGG -3'

Posted On

2021-08-02