Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Or52e8b'

275759

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

040896-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R3848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104673232-104674173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104673539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 216 (V216A)

Ref Sequence

ENSEMBL: ENSMUSP00000149895 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000073102
AA Change: V212A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072847
Gene: ENSMUSG00000096773
AA Change: V212A

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 damaging
Transcript: ENSMUST00000210113
AA Change: V216A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214318
AA Change: V216A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215899
AA Change: V216A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.4826

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525 (GRCm39)	E132G	possibly damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Cplx3	G	A	9: 57,515,600 (GRCm39)	A425V	possibly damaging	Het
Ctsc	A	G	7: 87,958,818 (GRCm39)	H366R	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kifbp	A	G	10: 62,405,249 (GRCm39)	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Spice1	C	T	16: 44,199,254 (GRCm39)	R569*	probably null	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,723,932 (GRCm39)	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	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
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
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'- ATACATTGGGGCACATTGTGG -3'
(R):5'- AACAAAGTCATTGGGGTCATTGC -3'

Sequencing Primer
(F):5'- CATTGTGGCCAAAACGATGTGTC -3'
(R):5'- CTGAGGAGCCTATACATGGTTC -3'

Posted On

2015-04-06