Mutagenetix > Incidental Mutation

Incidental Mutation 'R5743:Or52e7'

462701

Institutional Source

Beutler Lab

Gene Symbol

Or52e7

Ensembl Gene

ENSMUSG00000073915

Gene Name

olfactory receptor family 52 subfamily E member 7

Synonyms

GA_x6K02T2PBJ9-7664016-7664969, MOR32-1, Olfr676

MMRRC Submission

043353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104680774-104685360 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 104685363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098162] [ENSMUST00000219602]

AlphaFold

Q8VGZ9

Predicted Effect

probably null
Transcript: ENSMUST00000098162

SMART Domains

Protein: ENSMUSP00000095765
Gene: ENSMUSG00000073915

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	317	3e-113	PFAM
Pfam:7TM_GPCR_Srsx	45	316	4.5e-7	PFAM
Pfam:7tm_1	51	301	1.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219042

Predicted Effect

probably benign
Transcript: ENSMUST00000219602

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,416,536 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,391,629 (GRCm39)		probably null	Het
Arhgap20	T	A	9: 51,728,027 (GRCm39)	M80K	probably benign	Het
Arhgap29	T	G	3: 121,775,560 (GRCm39)	L37R	probably damaging	Het
Baiap3	G	A	17: 25,463,759 (GRCm39)	P906S	probably benign	Het
Caskin2	T	A	11: 115,693,115 (GRCm39)	N603I	possibly damaging	Het
Catspere2	G	T	1: 177,950,328 (GRCm39)		silent	Het
Ccdc159	A	T	9: 21,840,686 (GRCm39)	E84D	probably benign	Het
Ccl1	T	G	11: 82,067,712 (GRCm39)	S73R	possibly damaging	Het
Cdh20	G	T	1: 110,036,575 (GRCm39)	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108 (GRCm39)		probably null	Het
Coq5	A	C	5: 115,417,941 (GRCm39)	E57A	probably benign	Het
Cstf1	T	A	2: 172,219,753 (GRCm39)	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,948,815 (GRCm39)	Q47K	probably benign	Het
Dchs1	T	A	7: 105,420,803 (GRCm39)	Q539L	probably benign	Het
Fbxo46	C	A	7: 18,870,420 (GRCm39)	D346E	probably damaging	Het
Frem3	A	T	8: 81,342,407 (GRCm39)	T1567S	probably damaging	Het
Glce	T	A	9: 61,977,822 (GRCm39)	T21S	probably damaging	Het
Gm19402	C	T	10: 77,526,516 (GRCm39)	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664 (GRCm39)	Y152H	probably damaging	Het
Herc3	T	C	6: 58,895,784 (GRCm39)	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,664,021 (GRCm39)	T552K	possibly damaging	Het
Itga2	A	G	13: 115,021,042 (GRCm39)	V86A	probably damaging	Het
Kcnk4	A	T	19: 6,905,723 (GRCm39)	N81K	possibly damaging	Het
Lrp2	C	A	2: 69,297,221 (GRCm39)	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,011,553 (GRCm39)	F4L	unknown	Het
Mcpt1	A	T	14: 56,256,072 (GRCm39)	H37L	probably benign	Het
Mpdz	T	C	4: 81,339,425 (GRCm39)	M1V	probably null	Het
Myom2	A	T	8: 15,130,914 (GRCm39)	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,950,652 (GRCm39)	R509L	probably damaging	Het
Ntng1	T	A	3: 110,042,736 (GRCm39)	Y30F	probably damaging	Het
Or8c13	C	A	9: 38,092,014 (GRCm39)	C35F	probably benign	Het
Or8h8	C	A	2: 86,753,549 (GRCm39)	G109V	probably benign	Het
Orc6	A	T	8: 86,029,585 (GRCm39)	Q43L	probably benign	Het
Otogl	G	A	10: 107,692,862 (GRCm39)	S874L	possibly damaging	Het
Pcdh9	T	C	14: 94,124,160 (GRCm39)	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,871,859 (GRCm39)	I563F	probably damaging	Het
Plxna1	A	T	6: 89,333,511 (GRCm39)	S373T	probably damaging	Het
Prop1	T	C	11: 50,841,836 (GRCm39)	D190G	probably damaging	Het
Qrich1	T	A	9: 108,411,314 (GRCm39)	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,009,519 (GRCm39)	D102E	probably benign	Het
Rgs1	T	C	1: 144,121,110 (GRCm39)	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,478,846 (GRCm39)	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,966,520 (GRCm39)	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,294,379 (GRCm39)	T429K	probably benign	Het
Slc35f1	T	G	10: 52,965,546 (GRCm39)	D320E	probably benign	Het
Smug1	C	A	15: 103,066,043 (GRCm39)		probably null	Het
Spata31f3	G	A	4: 42,873,087 (GRCm39)	T68I	probably damaging	Het
Ssrp1	T	A	2: 84,871,512 (GRCm39)	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223 (GRCm39)	T1466A	possibly damaging	Het
Tmem130	A	G	5: 144,687,749 (GRCm39)	S196P	probably damaging	Het
Trim30d	A	T	7: 104,121,535 (GRCm39)	C176*	probably null	Het
Ush2a	A	G	1: 188,169,159 (GRCm39)	H1100R	probably benign	Het
Vezt	A	T	10: 93,832,957 (GRCm39)	F151L	probably benign	Het
Vps35l	A	G	7: 118,396,234 (GRCm39)	T538A	possibly damaging	Het
Zc3h3	G	T	15: 75,651,380 (GRCm39)	C638*	probably null	Het
Zfp128	C	T	7: 12,618,654 (GRCm39)	R51C	probably damaging	Het
Zfp141	T	G	7: 42,125,855 (GRCm39)	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,443,494 (GRCm39)	K324N	probably benign	Het

Other mutations in Or52e7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02034:Or52e7	APN	7	104,684,597 (GRCm39)	missense	probably benign
IGL02244:Or52e7	APN	7	104,685,152 (GRCm39)	missense	probably damaging	1.00
IGL03493:Or52e7	APN	7	104,685,151 (GRCm39)	missense	probably damaging	1.00
R1181:Or52e7	UTSW	7	104,685,021 (GRCm39)	missense	probably damaging	1.00
R1223:Or52e7	UTSW	7	104,684,773 (GRCm39)	missense	probably benign	0.01
R1460:Or52e7	UTSW	7	104,684,915 (GRCm39)	missense	possibly damaging	0.80
R1768:Or52e7	UTSW	7	104,685,157 (GRCm39)	missense	probably benign	0.00
R2256:Or52e7	UTSW	7	104,685,026 (GRCm39)	missense	probably benign	0.00
R2257:Or52e7	UTSW	7	104,685,026 (GRCm39)	missense	probably benign	0.00
R3846:Or52e7	UTSW	7	104,684,896 (GRCm39)	missense	probably benign	0.40
R4486:Or52e7	UTSW	7	104,684,510 (GRCm39)	missense	probably benign	0.00
R4488:Or52e7	UTSW	7	104,684,510 (GRCm39)	missense	probably benign	0.00
R4489:Or52e7	UTSW	7	104,684,510 (GRCm39)	missense	probably benign	0.00
R4598:Or52e7	UTSW	7	104,685,280 (GRCm39)	missense	probably benign	0.19
R4599:Or52e7	UTSW	7	104,685,280 (GRCm39)	missense	probably benign	0.00
R4701:Or52e7	UTSW	7	104,684,798 (GRCm39)	missense	probably damaging	1.00
R4855:Or52e7	UTSW	7	104,684,858 (GRCm39)	missense	probably damaging	0.99
R5083:Or52e7	UTSW	7	104,684,618 (GRCm39)	missense	probably damaging	1.00
R5798:Or52e7	UTSW	7	104,685,344 (GRCm39)	missense	probably benign	0.00
R6279:Or52e7	UTSW	7	104,684,878 (GRCm39)	missense	probably benign	0.25
R6300:Or52e7	UTSW	7	104,684,878 (GRCm39)	missense	probably benign	0.25
R7400:Or52e7	UTSW	7	104,684,417 (GRCm39)	missense	probably benign
R7672:Or52e7	UTSW	7	104,684,750 (GRCm39)	missense	probably damaging	1.00
R7698:Or52e7	UTSW	7	104,685,114 (GRCm39)	missense	probably benign	0.01
R8468:Or52e7	UTSW	7	104,684,953 (GRCm39)	missense	probably damaging	0.97
R9297:Or52e7	UTSW	7	104,684,830 (GRCm39)	missense	probably damaging	1.00
R9318:Or52e7	UTSW	7	104,684,830 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGTAGCTCCCATATCTGTG -3'
(R):5'- GGCTCCTCTAGTAGTTCGCAAG -3'

Sequencing Primer
(F):5'- AGCTCCCATATCTGTGTCATCTTAG -3'
(R):5'- CGCAAGAGTGAAGATTTGGACTTTG -3'

Posted On

2017-03-01