Mutagenetix > Incidental Mutation

Incidental Mutation 'R9203:Or52e3'

698320

Institutional Source

Beutler Lab

Gene Symbol

Or52e3

Ensembl Gene

ENSMUSG00000073954

Gene Name

olfactory receptor family 52 subfamily E member 3

Synonyms

Olfr594, MOR32-10, GA_x6K02T2PBJ9-5935234-5936169

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9203 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102868927-102869862 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 102869862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 312 (*312C)

Ref Sequence

ENSEMBL: ENSMUSP00000149847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098205] [ENSMUST00000214051]

AlphaFold

Q7TRR4

Predicted Effect

probably null
Transcript: ENSMUST00000098205
AA Change: *312C

SMART Domains

Protein: ENSMUSP00000095806
Gene: ENSMUSG00000073954
AA Change: *312C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	2.6e-130	PFAM
Pfam:7TM_GPCR_Srsx	37	284	4.6e-6	PFAM
Pfam:7tm_1	43	293	3.2e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214051
AA Change: *312C

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	T	C	2: 128,465,422 (GRCm39)	H1686R	possibly damaging	Het
Ankrd33b	A	G	15: 31,298,028 (GRCm39)	M243T	probably benign	Het
Appl1	G	T	14: 26,682,970 (GRCm39)	S104*	probably null	Het
Appl2	A	T	10: 83,476,879 (GRCm39)	Y48*	probably null	Het
Cacna1d	T	C	14: 29,773,669 (GRCm39)	N1694S	probably benign	Het
Cc2d2a	G	T	5: 43,891,179 (GRCm39)	D1372Y	probably benign	Het
Cdh4	C	T	2: 179,422,196 (GRCm39)	R107C	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cfap54	T	G	10: 92,880,990 (GRCm39)	M358L	probably benign	Het
Csnka2ip	T	A	16: 64,298,630 (GRCm39)	D578V	unknown	Het
Ctns	T	C	11: 73,082,563 (GRCm39)	I56V	probably benign	Het
Dnah9	A	G	11: 65,746,113 (GRCm39)	I4000T	possibly damaging	Het
Dock2	A	G	11: 34,622,366 (GRCm39)	V91A	possibly damaging	Het
Dpep2	T	C	8: 106,712,885 (GRCm39)	H335R	probably damaging	Het
Eno1	C	T	4: 150,332,539 (GRCm39)	R400*	probably null	Het
Fam114a1	C	A	5: 65,137,300 (GRCm39)	P81H	probably damaging	Het
Gemin6	A	G	17: 80,535,237 (GRCm39)	T66A	probably benign	Het
Grm4	T	C	17: 27,653,980 (GRCm39)	I657V	probably benign	Het
H2ac22	T	C	13: 21,971,057 (GRCm39)	N111S	probably benign	Het
Has3	T	C	8: 107,600,852 (GRCm39)	C105R	probably damaging	Het
Hecw1	T	C	13: 14,491,243 (GRCm39)	E170G	probably benign	Het
Hoxd3	T	C	2: 74,576,744 (GRCm39)	V208A	probably damaging	Het
Hypk	C	T	2: 121,288,163 (GRCm39)	Q75*	probably null	Het
Itpkb	T	A	1: 180,161,004 (GRCm39)	W377R	probably benign	Het
Kbtbd2	A	T	6: 56,755,987 (GRCm39)	V583E	probably damaging	Het
Kdm5d	A	G	Y: 940,981 (GRCm39)	Y1122C	probably damaging	Het
Kif7	A	C	7: 79,354,472 (GRCm39)	L771R	probably damaging	Het
Krt9	C	G	11: 100,079,734 (GRCm39)	G553R	unknown	Het
Lama3	G	A	18: 12,595,869 (GRCm39)	A933T	probably benign	Het
Muc16	A	G	9: 18,462,984 (GRCm39)	I7406T	unknown	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntng2	G	T	2: 29,084,998 (GRCm39)	C535*	probably null	Het
Omg	A	G	11: 79,393,051 (GRCm39)	M269T	probably benign	Het
Or1x6	A	T	11: 50,939,161 (GRCm39)	T76S	possibly damaging	Het
Parp2	T	C	14: 51,056,850 (GRCm39)	S325P	probably benign	Het
Pclo	C	T	5: 14,728,528 (GRCm39)	T2462M	unknown	Het
Pi4ka	G	T	16: 17,100,165 (GRCm39)	H1912N		Het
Piezo2	T	C	18: 63,290,302 (GRCm39)	I152M	probably benign	Het
Pigv	A	T	4: 133,392,990 (GRCm39)	L60Q	probably damaging	Het
Plcz1	T	A	6: 139,953,481 (GRCm39)	K379*	probably null	Het
Poll	T	C	19: 45,542,091 (GRCm39)	N405S	probably benign	Het
Pou6f2	T	A	13: 18,303,615 (GRCm39)	I467F		Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Psg26	T	C	7: 18,212,382 (GRCm39)	I324M	probably damaging	Het
Ptprh	T	A	7: 4,574,970 (GRCm39)	I350F	probably damaging	Het
Slpi	C	T	2: 164,196,817 (GRCm39)	V126I	probably benign	Het
Smarca5	C	T	8: 81,431,258 (GRCm39)	W986*	probably null	Het
Sorcs1	A	G	19: 50,250,733 (GRCm39)	I366T	probably damaging	Het
Sv2c	G	T	13: 96,224,745 (GRCm39)	S188*	probably null	Het
Sycp2	T	C	2: 177,996,906 (GRCm39)	K1099R	probably damaging	Het
Tdp2	C	A	13: 25,020,916 (GRCm39)	Y178*	probably null	Het
Trabd2b	A	G	4: 114,460,122 (GRCm39)	E420G	probably damaging	Het
Uggt2	A	T	14: 119,294,975 (GRCm39)	H550Q	probably benign	Het
Vmn2r66	T	C	7: 84,654,950 (GRCm39)	K453R	probably benign	Het
Vsig10l	A	G	7: 43,112,657 (GRCm39)	M1V	probably null	Het
Wdr70	G	A	15: 7,902,684 (GRCm39)	S646L	probably benign	Het
Zfp219	A	T	14: 52,246,405 (GRCm39)	S241T	probably damaging	Het
Zfp24	G	A	18: 24,147,326 (GRCm39)	H329Y	probably damaging	Het

Other mutations in Or52e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01595:Or52e3	APN	7	102,869,558 (GRCm39)	missense	probably damaging	1.00
IGL02732:Or52e3	APN	7	102,869,447 (GRCm39)	missense	probably benign	0.01
IGL03268:Or52e3	APN	7	102,869,848 (GRCm39)	missense	probably benign	0.09
R0008:Or52e3	UTSW	7	102,869,584 (GRCm39)	missense	probably benign	0.00
R0008:Or52e3	UTSW	7	102,869,558 (GRCm39)	missense	probably damaging	1.00
R1056:Or52e3	UTSW	7	102,869,625 (GRCm39)	missense	probably benign	0.01
R1300:Or52e3	UTSW	7	102,869,324 (GRCm39)	missense	probably benign	0.10
R1961:Or52e3	UTSW	7	102,869,204 (GRCm39)	missense	probably benign
R2029:Or52e3	UTSW	7	102,868,967 (GRCm39)	missense	probably damaging	0.97
R2380:Or52e3	UTSW	7	102,869,815 (GRCm39)	missense	possibly damaging	0.93
R4616:Or52e3	UTSW	7	102,869,629 (GRCm39)	nonsense	probably null
R7361:Or52e3	UTSW	7	102,869,830 (GRCm39)	missense	possibly damaging	0.96
R7366:Or52e3	UTSW	7	102,869,740 (GRCm39)	missense	probably benign	0.02
R7539:Or52e3	UTSW	7	102,869,273 (GRCm39)	missense	possibly damaging	0.93
R7593:Or52e3	UTSW	7	102,869,471 (GRCm39)	missense	probably damaging	1.00
R8393:Or52e3	UTSW	7	102,869,399 (GRCm39)	missense	probably benign	0.07
R8809:Or52e3	UTSW	7	102,869,446 (GRCm39)	missense	probably benign
R8984:Or52e3	UTSW	7	102,869,393 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- AGCACTTGTGGTTCTCATGTC -3'
(R):5'- TGCAGGTCATGAAGAACTCCC -3'

Sequencing Primer
(F):5'- GTGGTTCTCATGTCTGTGTCATCC -3'
(R):5'- TGAATTGGACAATAATGCTTGGTG -3'

Posted On

2022-02-07