Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Or52e3'

158297

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

039366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102868927-102869862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102869324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 133 (R133Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095806 (fasta)

Gene Model

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

AlphaFold

Q7TRR4

Predicted Effect

probably benign
Transcript: ENSMUST00000098205
AA Change: R133Q

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095806
Gene: ENSMUSG00000073954
AA Change: R133Q

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 benign
Transcript: ENSMUST00000214051
AA Change: R133Q

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,283,967 (GRCm39)	I2535T	probably damaging	Het
Adam34l	A	T	8: 44,079,881 (GRCm39)	Y114*	probably null	Het
Ank3	A	G	10: 69,840,495 (GRCm39)	I952V	probably benign	Het
Ankar	A	C	1: 72,682,323 (GRCm39)	V1414G	probably benign	Het
Arl2	A	G	19: 6,191,103 (GRCm39)	M10T	probably benign	Het
Arpp21	A	G	9: 111,972,442 (GRCm39)	I352T	probably damaging	Het
Cacna1e	T	A	1: 154,274,419 (GRCm39)	H2162L	probably benign	Het
Cep170b	A	C	12: 112,703,691 (GRCm39)	M622L	probably benign	Het
Cped1	T	C	6: 22,119,552 (GRCm39)	V337A	probably benign	Het
Cpn2	T	A	16: 30,078,481 (GRCm39)	T407S	probably benign	Het
Cpne4	T	C	9: 104,870,333 (GRCm39)	W263R	probably damaging	Het
Crtc1	A	G	8: 70,840,189 (GRCm39)		probably null	Het
Cspg4b	T	C	13: 113,502,694 (GRCm39)	F133S	probably damaging	Het
Dennd5a	A	T	7: 109,518,614 (GRCm39)	I485N	probably benign	Het
Dnah6	T	C	6: 73,101,692 (GRCm39)	Q1892R	probably benign	Het
Dse	G	A	10: 34,028,411 (GRCm39)	A893V	probably benign	Het
Dsg1a	T	G	18: 20,465,206 (GRCm39)	S466A	probably benign	Het
Dstyk	T	C	1: 132,377,651 (GRCm39)	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,294,464 (GRCm39)	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,821,426 (GRCm39)	G2576C	probably damaging	Het
Eps15l1	A	T	8: 73,145,746 (GRCm39)	D162E	probably damaging	Het
Fstl4	C	A	11: 52,959,454 (GRCm39)	T165N	probably benign	Het
Gm8674	T	C	13: 50,055,758 (GRCm39)		noncoding transcript	Het
Gtsf2	T	A	15: 103,352,780 (GRCm39)	L39F	possibly damaging	Het
Hck	A	C	2: 152,976,067 (GRCm39)	D202A	possibly damaging	Het
Il12b	T	A	11: 44,298,903 (GRCm39)		probably null	Het
Irf4	T	C	13: 30,941,568 (GRCm39)	L307P	probably damaging	Het
Keg1	G	A	19: 12,696,368 (GRCm39)	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,610,452 (GRCm39)	D218G	probably damaging	Het
Map1b	T	C	13: 99,569,029 (GRCm39)	K1231E	unknown	Het
Mapkbp1	T	C	2: 119,844,136 (GRCm39)	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,778,333 (GRCm39)	D310E	probably benign	Het
Mmp9	A	T	2: 164,790,876 (GRCm39)	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,370,666 (GRCm39)	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,209,065 (GRCm39)	I110F	probably damaging	Het
Neu1	A	T	17: 35,153,314 (GRCm39)	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,284,209 (GRCm39)	H50R	probably benign	Het
Nlrp3	C	T	11: 59,446,594 (GRCm39)	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,177,859 (GRCm39)	D517A	probably damaging	Het
Or14c43	T	C	7: 86,114,951 (GRCm39)	F111L	probably benign	Het
Or1e32	T	C	11: 73,705,072 (GRCm39)	T279A	probably benign	Het
Or2z2	T	C	11: 58,346,667 (GRCm39)	Y36C	probably damaging	Het
P3h2	C	A	16: 25,815,986 (GRCm39)	E176*	probably null	Het
Parp10	C	A	15: 76,126,190 (GRCm39)	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,570,450 (GRCm39)	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,159,611 (GRCm39)	T818S	possibly damaging	Het
Phf11	A	T	14: 59,488,563 (GRCm39)	V78D	probably damaging	Het
Phip	A	T	9: 82,758,800 (GRCm39)	L1450Q	probably benign	Het
Pinx1	A	G	14: 64,156,859 (GRCm39)	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,706,014 (GRCm39)	E19G	probably damaging	Het
Pum1	T	C	4: 130,493,272 (GRCm39)	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,908 (GRCm39)	H106L	probably benign	Het
Slc10a6	T	C	5: 103,754,550 (GRCm39)	D327G	probably benign	Het
Syt1	A	T	10: 108,467,682 (GRCm39)	V205D	possibly damaging	Het
Tep1	C	T	14: 51,064,512 (GRCm39)		probably null	Het
Thnsl2	T	A	6: 71,111,175 (GRCm39)	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,524,763 (GRCm39)	H304L	probably damaging	Het
Unc5c	G	A	3: 141,534,304 (GRCm39)	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,002,704 (GRCm39)	E506G	probably benign	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
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
R9203:Or52e3	UTSW	7	102,869,862 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TTAAGACTGAGAGCAGCCTCCACC -3'
(R):5'- TGATATTGGCACAAGACAGACGAGC -3'

Sequencing Primer
(F):5'- ATTGACTTGGGCCTTTCAACAG -3'
(R):5'- CAAGACCCATATGCTCACAGTAGG -3'

Posted On

2014-02-18