Mutagenetix > Incidental Mutation

Incidental Mutation 'R8297:Or52e8b'

639020

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

067853-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

R8297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104673232-104674173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104673885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 97 (G97R)

Ref Sequence

ENSEMBL: ENSMUSP00000072847 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSE1

Predicted Effect

probably benign
Transcript: ENSMUST00000073102
AA Change: G97R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072847
Gene: ENSMUSG00000096773
AA Change: G97R

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 benign
Transcript: ENSMUST00000210113
AA Change: G101R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.2226

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,578 (GRCm39)	L73P	probably damaging	Het
4933412E24Rik	T	G	15: 59,887,524 (GRCm39)	R305S	probably damaging	Het
Adamts19	T	A	18: 58,970,920 (GRCm39)	V168E	probably damaging	Het
Ankrd34b	T	A	13: 92,576,097 (GRCm39)	L443Q	probably damaging	Het
Ano3	A	G	2: 110,491,616 (GRCm39)	Y887H	probably damaging	Het
Arhgef2	A	T	3: 88,546,739 (GRCm39)	H553L	probably benign	Het
Atxn1	G	T	13: 45,720,505 (GRCm39)	N463K	probably benign	Het
Birc6	A	G	17: 74,932,099 (GRCm39)		probably null	Het
C4bp	A	G	1: 130,564,482 (GRCm39)	S401P	probably damaging	Het
Cd5	T	A	19: 10,697,609 (GRCm39)	R457W	probably damaging	Het
Chek2	T	G	5: 110,996,302 (GRCm39)	Y127D	probably damaging	Het
Clec4a1	G	A	6: 122,898,960 (GRCm39)	V10M	probably damaging	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Cops2	T	C	2: 125,701,028 (GRCm39)		probably benign	Het
Cyb5d2	A	G	11: 72,679,929 (GRCm39)	F122S	probably damaging	Het
Daam1	T	A	12: 71,998,689 (GRCm39)	L548H	unknown	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dsg1a	A	C	18: 20,465,090 (GRCm39)	N427T	probably benign	Het
Ear14	A	T	14: 51,441,564 (GRCm39)	D140V	probably damaging	Het
Epha4	A	C	1: 77,483,547 (GRCm39)	F154C	probably damaging	Het
Ets2	G	A	16: 95,507,321 (GRCm39)	V12M	probably damaging	Het
Fbxo40	G	A	16: 36,789,670 (GRCm39)	T480I	probably damaging	Het
Fdps	A	T	3: 89,001,048 (GRCm39)	Y322N	probably damaging	Het
Gca	T	C	2: 62,516,700 (GRCm39)	M132T	probably benign	Het
Ifi203	T	G	1: 173,765,496 (GRCm39)	K26T	probably damaging	Het
Itga10	A	G	3: 96,562,116 (GRCm39)	R668G	probably damaging	Het
Itgal	T	C	7: 126,929,638 (GRCm39)	I1185T	unknown	Het
Kcnj13	A	T	1: 87,314,189 (GRCm39)	N344K	probably damaging	Het
Kdm5a	A	T	6: 120,358,516 (GRCm39)	L186F	probably benign	Het
Klhl8	T	C	5: 104,010,954 (GRCm39)	N624D	probably benign	Het
Klrb1	G	T	6: 128,689,222 (GRCm39)	T83K	possibly damaging	Het
Krt77	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	15: 101,768,407 (GRCm39)		probably benign	Het
Ltb	G	T	17: 35,413,655 (GRCm39)	R53L	probably benign	Het
Mterf3	A	G	13: 67,055,222 (GRCm39)	V69A		Het
Mvb12a	A	G	8: 71,997,888 (GRCm39)	K101E	probably damaging	Het
Nbeal2	T	A	9: 110,464,409 (GRCm39)	Q1110L	possibly damaging	Het
Neb	T	A	2: 52,198,775 (GRCm39)	T389S	possibly damaging	Het
Nol4	A	G	18: 23,173,069 (GRCm39)	F11L	probably damaging	Het
Or10p22	T	C	10: 128,826,708 (GRCm39)	L309P	possibly damaging	Het
Or2a54	A	G	6: 43,093,440 (GRCm39)	I255V	probably benign	Het
Or2h15	A	G	17: 38,441,484 (GRCm39)	S200P	probably damaging	Het
Pde2a	T	A	7: 101,153,880 (GRCm39)	Y487N	possibly damaging	Het
Pde4a	C	T	9: 21,077,404 (GRCm39)	P61S	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Prr5l	A	G	2: 101,571,630 (GRCm39)		probably null	Het
Ptpn6	G	A	6: 124,705,614 (GRCm39)	T179I	possibly damaging	Het
Ralyl	T	C	3: 14,104,836 (GRCm39)	S34P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Robo2	A	T	16: 73,812,814 (GRCm39)	C293*	probably null	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Slc22a22	A	T	15: 57,122,506 (GRCm39)	V157E	probably damaging	Het
Sytl2	A	G	7: 90,034,283 (GRCm39)	T498A	probably benign	Het
Tgm6	G	A	2: 129,979,358 (GRCm39)	V163I	probably benign	Het
Tnpo3	A	T	6: 29,582,302 (GRCm39)	C187S	possibly damaging	Het
Ttn	A	G	2: 76,616,485 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,336,905 (GRCm39)	A210T	possibly damaging	Het
Vangl2	C	A	1: 171,837,513 (GRCm39)	V99F	possibly damaging	Het
Vmn1r167	C	T	7: 23,204,215 (GRCm39)	C267Y	probably damaging	Het
Vsig10l	T	C	7: 43,113,531 (GRCm39)	V161A	possibly damaging	Het
Xrcc5	G	A	1: 72,364,244 (GRCm39)	R232Q	possibly damaging	Het
Xrcc6	C	G	15: 81,913,463 (GRCm39)	F365L	probably damaging	Het
Zdhhc13	A	G	7: 48,465,257 (GRCm39)	Y389C	probably damaging	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
R5499:Or52e8b	UTSW	7	104,674,184 (GRCm39)	start codon destroyed	probably null	0.06
R5586:Or52e8b	UTSW	7	104,673,428 (GRCm39)	missense	probably damaging	1.00
R7244:Or52e8b	UTSW	7	104,674,148 (GRCm39)	missense	probably benign
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'- AACCATGTATAGGCTCCTCAGC -3'
(R):5'- ACACATCTGGATTGGATTTCCC -3'

Sequencing Primer
(F):5'- TCCTCAGCACAGCAATACCTG -3'
(R):5'- CTATCTCATTGCAATTCTGGGAAATG -3'

Posted On

2020-07-28