Mutagenetix > Incidental Mutation

Incidental Mutation 'R7276:Or52e8'

565584

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

045359-MU

Accession Numbers

Essential gene?

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

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104621683-104625202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104624857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 116 (M116L)

Ref Sequence

ENSEMBL: ENSMUSP00000148008 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSN5

Predicted Effect

probably benign
Transcript: ENSMUST00000078710
AA Change: M112L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531
AA Change: M112L

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

possibly damaging
Transcript: ENSMUST00000210963
AA Change: M116L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217091
AA Change: M116L

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,762,227 (GRCm39)	V26A	unknown	Het
4930546C10Rik	C	T	18: 69,083,093 (GRCm39)	W40*	probably null	Het
Abcc5	T	C	16: 20,195,258 (GRCm39)		probably null	Het
Adamts18	T	A	8: 114,501,896 (GRCm39)	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,774,239 (GRCm39)	N406I	probably benign	Het
Arhgap35	T	G	7: 16,298,493 (GRCm39)	T191P	probably damaging	Het
Atg3	G	A	16: 44,982,805 (GRCm39)	E37K	possibly damaging	Het
Bbs1	A	T	19: 4,947,738 (GRCm39)		probably null	Het
BC048562	A	G	9: 108,322,435 (GRCm39)	N60D	probably damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
C7	A	T	15: 5,041,449 (GRCm39)	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,840,031 (GRCm39)	Q634K	possibly damaging	Het
Cd93	A	T	2: 148,283,660 (GRCm39)	V562E	probably damaging	Het
Cemip2	A	G	19: 21,812,824 (GRCm39)	I1010V	probably benign	Het
Cript	T	A	17: 87,341,696 (GRCm39)	Y50*	probably null	Het
Dnah14	T	A	1: 181,513,372 (GRCm39)	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,984 (GRCm39)	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,728,717 (GRCm39)		probably null	Het
Ffar3	C	G	7: 30,555,273 (GRCm39)	V16L	possibly damaging	Het
Gcn1	C	T	5: 115,749,119 (GRCm39)	R1884W	probably damaging	Het
Gpatch1	T	A	7: 34,996,921 (GRCm39)	M426L	probably benign	Het
Hcn2	T	A	10: 79,564,934 (GRCm39)	Y449N	possibly damaging	Het
Hdac10	T	C	15: 89,012,488 (GRCm39)	T32A	probably benign	Het
Hykk	T	C	9: 54,853,502 (GRCm39)	Y275H	probably damaging	Het
Igfn1	G	C	1: 135,926,376 (GRCm39)	P25A	possibly damaging	Het
Jph1	T	C	1: 17,162,266 (GRCm39)	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,931,450 (GRCm39)	D149E	probably damaging	Het
Knl1	A	T	2: 118,902,167 (GRCm39)	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,347,572 (GRCm39)	S3041L	unknown	Het
Mtrex	A	T	13: 113,050,973 (GRCm39)	Y201N	probably benign	Het
Mtus2	C	T	5: 148,013,368 (GRCm39)	R54C	probably benign	Het
Myo1d	A	T	11: 80,583,898 (GRCm39)	I38N	probably damaging	Het
Nasp	A	G	4: 116,471,546 (GRCm39)	S94P	probably damaging	Het
Nfat5	C	A	8: 108,093,731 (GRCm39)	N657K	probably benign	Het
Ngfr	A	G	11: 95,465,170 (GRCm39)	L226P	probably benign	Het
Nos1	T	C	5: 118,048,303 (GRCm39)	S703P	probably damaging	Het
Nsun7	A	G	5: 66,434,484 (GRCm39)	D275G	probably benign	Het
Oas1d	A	G	5: 121,054,944 (GRCm39)	N172S	possibly damaging	Het
Or11h4	A	G	14: 50,974,187 (GRCm39)	V144A	possibly damaging	Het
Or2y17	T	A	11: 49,231,821 (GRCm39)	M154K	probably benign	Het
Or4c11b	T	A	2: 88,625,025 (GRCm39)	F100I	probably damaging	Het
Papss1	A	G	3: 131,324,995 (GRCm39)	E484G	probably benign	Het
Pcdh15	A	G	10: 74,160,224 (GRCm39)	D447G	probably benign	Het
Phkg2	A	G	7: 127,181,558 (GRCm39)	E247G	possibly damaging	Het
Pramel30	A	G	4: 144,059,216 (GRCm39)	E309G	possibly damaging	Het
Prelid2	T	C	18: 42,045,487 (GRCm39)	N141S	possibly damaging	Het
Psg18	T	C	7: 18,079,909 (GRCm39)	M431V	probably damaging	Het
Psmd12	A	T	11: 107,394,471 (GRCm39)	R397*	probably null	Het
Ralgds	G	A	2: 28,435,884 (GRCm39)	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,319,416 (GRCm39)	C945Y	probably benign	Het
Rgs12	A	G	5: 35,183,715 (GRCm39)	D1026G	probably benign	Het
Scn7a	G	A	2: 66,587,506 (GRCm39)	P66S	probably damaging	Het
Supt16	T	C	14: 52,414,458 (GRCm39)	E448G	probably benign	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tas2r114	T	C	6: 131,666,310 (GRCm39)	I239M	probably damaging	Het
Tecpr1	C	T	5: 144,153,838 (GRCm39)	W138*	probably null	Het
Tex101	T	C	7: 24,369,829 (GRCm39)	N45S	probably damaging	Het
Tmx1	C	A	12: 70,512,917 (GRCm39)	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,951,148 (GRCm39)	I1434L	probably damaging	Het
Trappc9	G	T	15: 72,924,119 (GRCm39)	H208N	probably damaging	Het
Trcg1	T	A	9: 57,149,862 (GRCm39)	L478Q	probably damaging	Het
Trim42	G	T	9: 97,251,625 (GRCm39)	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,509,934 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,831,881 (GRCm39)	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,321,645 (GRCm39)	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,340,359 (GRCm39)	D38G	probably damaging	Het
Vsig8	C	A	1: 172,390,850 (GRCm39)	C411*	probably null	Het
Vwce	A	T	19: 10,641,538 (GRCm39)	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782 (GRCm39)	S897G	probably damaging	Het
Zfp111	C	A	7: 23,898,978 (GRCm39)	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,280,624 (GRCm39)	H193N	probably damaging	Het
Zfp811	T	C	17: 33,017,755 (GRCm39)	E95G	probably benign	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
R1819:Or52e8	UTSW	7	104,624,605 (GRCm39)	missense	probably benign	0.01
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
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'- GCCCATGTGCTCACAGTAAG -3'
(R):5'- AGCTGAACACAGTCTTCATGAGC -3'

Sequencing Primer
(F):5'- CCCATGTGCTCACAGTAAGTATGAG -3'
(R):5'- ATGAGCCCATGTACTACTTCCTAG -3'

Posted On

2019-06-26