Mutagenetix > Incidental Mutation

Incidental Mutation 'R5499:Or52e8b'

430516

Institutional Source

Beutler Lab

Gene Symbol

Or52e8b

Ensembl Gene

ENSMUSG00000096773

Gene Name

olfactory receptor family 52 subfamily E member 8B

Synonyms

MOR32-9P, Olfr675, GA_x6K02T2PBJ9-7653782-7652841

MMRRC Submission

043060-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

R5499 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104673232-104674173 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 104674184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000149895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073102] [ENSMUST00000210113] [ENSMUST00000214318] [ENSMUST00000215899]

AlphaFold

A0A1B0GSE1

Predicted Effect

probably null
Transcript: ENSMUST00000073102

SMART Domains

Protein: ENSMUSP00000072847
Gene: ENSMUSG00000096773

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	5e-118	PFAM
Pfam:7TM_GPCR_Srsx	37	308	1.9e-6	PFAM
Pfam:7tm_1	43	293	2.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000210113
AA Change: M1K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably null
Transcript: ENSMUST00000214318
AA Change: M1K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably null
Transcript: ENSMUST00000215899
AA Change: M1K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,432,137 (GRCm39)	E74K	unknown	Het
Adam10	A	T	9: 70,647,399 (GRCm39)	H176L	probably benign	Het
Anapc5	C	T	5: 122,926,476 (GRCm39)	E621K	probably damaging	Het
Asf1a	T	A	10: 53,482,266 (GRCm39)	L26Q	probably damaging	Het
Atxn1l	A	G	8: 110,458,264 (GRCm39)	L666P	probably damaging	Het
Cep290	G	A	10: 100,373,515 (GRCm39)	R1265H	probably damaging	Het
Chd8	A	G	14: 52,441,888 (GRCm39)		probably null	Het
Ctse	T	A	1: 131,600,251 (GRCm39)	Y333*	probably null	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dnai7	A	T	6: 145,123,157 (GRCm39)	W570R	probably damaging	Het
Ercc6	G	A	14: 32,238,916 (GRCm39)	M1I	probably null	Het
Fbxl4	A	G	4: 22,386,017 (GRCm39)	E208G	probably damaging	Het
Fstl4	G	T	11: 52,959,374 (GRCm39)	M138I	probably benign	Het
Galnt17	T	A	5: 130,929,466 (GRCm39)	Q447L	probably benign	Het
H2-Q7	T	A	17: 35,658,916 (GRCm39)	C122*	probably null	Het
Herpud1	C	T	8: 95,116,041 (GRCm39)	L69F	probably damaging	Het
Hnrnpa3	A	G	2: 75,495,584 (GRCm39)	Y365C	probably benign	Het
Ino80	A	T	2: 119,272,128 (GRCm39)	V553E	probably damaging	Het
Kif13a	A	G	13: 46,986,212 (GRCm39)	Y38H	probably damaging	Het
Klk1b21	A	G	7: 43,755,100 (GRCm39)	I132V	probably benign	Het
Lamb2	T	C	9: 108,365,001 (GRCm39)	S1252P	possibly damaging	Het
Lct	T	A	1: 128,214,414 (GRCm39)	D1786V	probably damaging	Het
Lrig2	T	A	3: 104,368,873 (GRCm39)	M572L	probably benign	Het
Lrp1	C	T	10: 127,408,813 (GRCm39)	V1710I	possibly damaging	Het
Mmp12	C	A	9: 7,353,000 (GRCm39)	S250R	probably benign	Het
Mycbp2	T	C	14: 103,479,615 (GRCm39)	D1226G	probably damaging	Het
Myocd	A	G	11: 65,069,575 (GRCm39)	I755T	possibly damaging	Het
Nup210l	T	C	3: 90,081,677 (GRCm39)	L1003P	probably damaging	Het
Or11h23	G	A	14: 50,948,324 (GRCm39)	C179Y	probably damaging	Het
Or1af1	T	C	2: 37,109,777 (GRCm39)	I92T	possibly damaging	Het
Palmd	T	A	3: 116,717,481 (GRCm39)	M339L	probably benign	Het
Phtf1	T	A	3: 103,898,491 (GRCm39)	N307K	probably benign	Het
Ppp2r3c	T	C	12: 55,335,411 (GRCm39)	I243V	probably benign	Het
Ptafr	A	G	4: 132,306,646 (GRCm39)	E12G	probably damaging	Het
Rpgrip1	T	A	14: 52,378,042 (GRCm39)	N463K	probably benign	Het
Sgcb	T	C	5: 73,801,748 (GRCm39)	N39S	probably damaging	Het
Skint5	A	G	4: 113,799,700 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn8	C	A	11: 82,895,042 (GRCm39)	S588I	probably damaging	Het
Tcea2	A	G	2: 181,322,227 (GRCm39)	I10V	probably damaging	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Top2a	C	T	11: 98,913,202 (GRCm39)	V77I	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vrk1	A	G	12: 106,018,024 (GRCm39)	K98E	possibly damaging	Het
Zcchc2	C	T	1: 105,958,322 (GRCm39)	T931I	possibly damaging	Het
Zfc3h1	T	A	10: 115,246,598 (GRCm39)	L895H	probably damaging	Het
Zfp101	T	C	17: 33,601,318 (GRCm39)	E108G	probably benign	Het
Zfp609	A	G	9: 65,610,137 (GRCm39)	V942A	probably benign	Het

Other mutations in Or52e8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02639:Or52e8b	APN	7	104,673,429 (GRCm39)	missense	probably damaging	1.00
IGL02944:Or52e8b	APN	7	104,674,130 (GRCm39)	missense	probably damaging	1.00
R1182:Or52e8b	UTSW	7	104,673,285 (GRCm39)	missense	probably damaging	1.00
R1412:Or52e8b	UTSW	7	104,673,402 (GRCm39)	missense	probably damaging	1.00
R1528:Or52e8b	UTSW	7	104,673,971 (GRCm39)	missense	probably damaging	1.00
R1555:Or52e8b	UTSW	7	104,673,729 (GRCm39)	missense	probably benign	0.00
R1589:Or52e8b	UTSW	7	104,673,767 (GRCm39)	missense	probably benign
R1778:Or52e8b	UTSW	7	104,673,370 (GRCm39)	missense	probably benign	0.03
R3690:Or52e8b	UTSW	7	104,673,902 (GRCm39)	missense	probably damaging	0.99
R3848:Or52e8b	UTSW	7	104,673,539 (GRCm39)	missense	probably damaging	0.99
R4784:Or52e8b	UTSW	7	104,673,737 (GRCm39)	missense	probably damaging	0.97
R5050:Or52e8b	UTSW	7	104,673,594 (GRCm39)	missense	probably damaging	1.00
R5074:Or52e8b	UTSW	7	104,673,260 (GRCm39)	missense	probably benign
R5586:Or52e8b	UTSW	7	104,673,428 (GRCm39)	missense	probably damaging	1.00
R7244:Or52e8b	UTSW	7	104,674,148 (GRCm39)	missense	probably benign
R8297:Or52e8b	UTSW	7	104,673,885 (GRCm39)	missense	probably benign	0.14
R8532:Or52e8b	UTSW	7	104,673,773 (GRCm39)	missense	probably damaging	1.00
R9087:Or52e8b	UTSW	7	104,673,910 (GRCm39)	nonsense	probably null
Z1176:Or52e8b	UTSW	7	104,673,306 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCAGCATGGCTAGGAAGTAG -3'
(R):5'- CTGTGTGAAATTCAGGAAACTTGC -3'

Sequencing Primer
(F):5'- GGCTCATGAAGACTGTGTTCAG -3'
(R):5'- GTGAAATTCAGGAAACTTGCACATG -3'

Posted On

2016-10-05