Mutagenetix > Incidental Mutation

Incidental Mutation 'R1819:Or52e8'

204702

Institutional Source

Beutler Lab

Gene Symbol

Or52e8

Ensembl Gene

ENSMUSG00000094531

Gene Name

olfactory receptor family 52 subfamily E member 8

Synonyms

MOR32-12, Olfr671, GA_x6K02T2PBJ9-7604826-7603885

MMRRC Submission

039847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104621683-104625202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104624605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 196 (V196I)

Ref Sequence

ENSEMBL: ENSMUSP00000077774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078710] [ENSMUST00000210963] [ENSMUST00000217091]

AlphaFold

A0A1B0GSN5

Predicted Effect

probably benign
Transcript: ENSMUST00000078710
AA Change: V196I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531
AA Change: V196I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.4e-117	PFAM
Pfam:7TM_GPCR_Srsx	37	308	3.7e-7	PFAM
Pfam:7tm_1	43	293	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210963
AA Change: V200I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000217091
AA Change: V200I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.1286

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,871,882 (GRCm39)		probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Acad11	G	A	9: 103,991,738 (GRCm39)		probably null	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afdn	A	G	17: 14,071,110 (GRCm39)	T783A	probably damaging	Het
Akap13	T	A	7: 75,258,453 (GRCm39)	M359K	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atl1	T	C	12: 70,010,074 (GRCm39)	S547P	probably benign	Het
Bace1	A	T	9: 45,768,460 (GRCm39)	T252S	possibly damaging	Het
BC034090	A	G	1: 155,101,575 (GRCm39)	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Capn8	T	A	1: 182,426,391 (GRCm39)	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,926,195 (GRCm39)	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,110,047 (GRCm39)	Q385*	probably null	Het
Cdh10	G	T	15: 18,992,051 (GRCm39)	G437*	probably null	Het
Ceacam1	T	A	7: 25,163,285 (GRCm39)	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cers4	T	A	8: 4,571,232 (GRCm39)	M267K	probably benign	Het
Csmd3	T	C	15: 47,617,131 (GRCm39)	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dus2	T	A	8: 106,778,480 (GRCm39)	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,348,081 (GRCm39)	D111G	probably damaging	Het
Erich4	C	T	7: 25,314,715 (GRCm39)	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 27,784,708 (GRCm39)	R256L	probably benign	Het
Fdxr	A	T	11: 115,166,930 (GRCm39)	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Foxo3	A	T	10: 42,073,607 (GRCm39)	D84E	probably benign	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gli3	C	T	13: 15,900,377 (GRCm39)	Q1255*	probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Gpr171	T	C	3: 59,005,341 (GRCm39)	I145V	probably benign	Het
Gpr68	T	A	12: 100,844,662 (GRCm39)	H294L	possibly damaging	Het
Gys2	T	C	6: 142,406,912 (GRCm39)	E148G	probably damaging	Het
Heatr5b	T	C	17: 79,098,940 (GRCm39)	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,413,834 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,692,976 (GRCm39)	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,222,889 (GRCm39)	S97T	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kcnj11	C	T	7: 45,748,580 (GRCm39)	G248S	probably benign	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,372,124 (GRCm39)	Y205C	probably damaging	Het
Lima1	T	A	15: 99,717,817 (GRCm39)	H63L	probably benign	Het
Lonrf3	A	G	X: 35,622,361 (GRCm39)	I687V	probably damaging	Het
Lrba	A	G	3: 86,449,941 (GRCm39)	T2099A	possibly damaging	Het
Morn5	C	T	2: 35,942,987 (GRCm39)	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,657,674 (GRCm39)	R22H	probably benign	Het
Nr2e3	T	C	9: 59,850,720 (GRCm39)	I380V	probably damaging	Het
Oas1c	G	A	5: 120,946,800 (GRCm39)	A10V	possibly damaging	Het
Or1e35	T	C	11: 73,797,505 (GRCm39)	E271G	probably benign	Het
P3h3	T	C	6: 124,831,895 (GRCm39)	T297A	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Plec	C	T	15: 76,064,106 (GRCm39)	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,472,494 (GRCm39)	N1079K	probably benign	Het
Prr12	G	C	7: 44,698,121 (GRCm39)		probably benign	Het
Psip1	A	G	4: 83,376,400 (GRCm39)	S480P	probably benign	Het
Ptpre	A	G	7: 135,270,722 (GRCm39)		probably benign	Het
Pvalb	A	C	15: 78,086,784 (GRCm39)	V44G	probably damaging	Het
Rab3c	T	G	13: 110,220,669 (GRCm39)	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,647,284 (GRCm39)	K703R	possibly damaging	Het
Setd7	T	G	3: 51,450,060 (GRCm39)	H122P	probably benign	Het
Slc26a8	A	T	17: 28,903,808 (GRCm39)	F19I	probably benign	Het
Slc6a14	A	G	X: 21,607,286 (GRCm39)	D625G	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,906,696 (GRCm39)	F40L	possibly damaging	Het
Syt8	G	A	7: 141,991,971 (GRCm39)	G21R	possibly damaging	Het
Tagln	A	G	9: 45,842,138 (GRCm39)	F152L	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,937,442 (GRCm39)	S1202N	probably benign	Het
Tekt2	T	C	4: 126,217,529 (GRCm39)	K179E	probably damaging	Het
Tekt4	G	T	17: 25,692,785 (GRCm39)		probably null	Het
Tmprss5	G	T	9: 49,018,464 (GRCm39)	R98L	probably benign	Het
Tns1	G	T	1: 73,955,635 (GRCm39)		probably benign	Het
Tpcn1	A	C	5: 120,674,292 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,741,286 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,964,796 (GRCm39)	N706S	possibly damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr17	A	T	8: 55,143,159 (GRCm39)	S140T	probably benign	Het
Wdr19	A	T	5: 65,370,234 (GRCm39)	I123F	possibly damaging	Het
Zer1	C	T	2: 30,000,230 (GRCm39)	A317T	probably benign	Het
Zfp474	A	G	18: 52,771,872 (GRCm39)	D175G	probably damaging	Het
Zfp598	T	C	17: 24,900,104 (GRCm39)		probably benign	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

Other mutations in Or52e8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Or52e8	APN	7	104,625,193 (GRCm39)	splice site	probably null
IGL02154:Or52e8	APN	7	104,625,188 (GRCm39)	start codon destroyed	probably null	0.14
IGL02308:Or52e8	APN	7	104,624,665 (GRCm39)	missense	possibly damaging	0.84
IGL02794:Or52e8	APN	7	104,624,596 (GRCm39)	missense	probably benign
R0919:Or52e8	UTSW	7	104,624,519 (GRCm39)	nonsense	probably null
R1972:Or52e8	UTSW	7	104,625,106 (GRCm39)	missense	possibly damaging	0.63
R2025:Or52e8	UTSW	7	104,624,451 (GRCm39)	missense	probably benign	0.01
R4910:Or52e8	UTSW	7	104,624,686 (GRCm39)	missense	possibly damaging	0.88
R5442:Or52e8	UTSW	7	104,624,435 (GRCm39)	missense	possibly damaging	0.80
R5554:Or52e8	UTSW	7	104,625,189 (GRCm39)	start codon destroyed	probably null	0.99
R5932:Or52e8	UTSW	7	104,624,862 (GRCm39)	missense	probably damaging	1.00
R6683:Or52e8	UTSW	7	104,625,175 (GRCm39)	missense	probably benign
R6962:Or52e8	UTSW	7	104,624,580 (GRCm39)	missense	probably benign	0.00
R7000:Or52e8	UTSW	7	104,624,338 (GRCm39)	missense	probably damaging	1.00
R7059:Or52e8	UTSW	7	104,625,224 (GRCm39)	splice site	probably null
R7276:Or52e8	UTSW	7	104,624,857 (GRCm39)	missense	possibly damaging	0.62
R7425:Or52e8	UTSW	7	104,624,268 (GRCm39)	nonsense	probably null
R7688:Or52e8	UTSW	7	104,624,332 (GRCm39)	missense	possibly damaging	0.60
R8043:Or52e8	UTSW	7	104,625,080 (GRCm39)	nonsense	probably null
R8074:Or52e8	UTSW	7	104,624,934 (GRCm39)	missense	probably damaging	1.00
R8432:Or52e8	UTSW	7	104,625,199 (GRCm39)	missense	probably benign
R8705:Or52e8	UTSW	7	104,624,446 (GRCm39)	missense	possibly damaging	0.95
R8757:Or52e8	UTSW	7	104,624,325 (GRCm39)	missense	probably damaging	1.00
R8759:Or52e8	UTSW	7	104,624,325 (GRCm39)	missense	probably damaging	1.00
R9489:Or52e8	UTSW	7	104,624,856 (GRCm39)	missense	probably damaging	1.00
R9597:Or52e8	UTSW	7	104,624,413 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GGCCAAAACGATGTGTCAAG -3'
(R):5'- CATTGCCATTTGTAAGCCCC -3'

Sequencing Primer
(F):5'- CCAAAACGATGTGTCAAGAAGGAG -3'
(R):5'- TGTCATTCTCACCAACAAAGTCATTG -3'

Posted On

2014-06-23