Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02172:Or51e1'

282917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51e1

Ensembl Gene

ENSMUSG00000070423

Gene Name

olfactory receptor family 51 subfamily E member 1

Synonyms

GA_x6K02T2PBJ9-5425951-5426904, MOR18-1, Olfr558

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02172

Quality Score

Status

Chromosome

Chromosomal Location

102351530-102361261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102359051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 195 (R195H)

Ref Sequence

ENSEMBL: ENSMUSP00000091674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]

AlphaFold

Q8VGZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000084817

SMART Domains

Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	317	2.1e-117	PFAM
Pfam:7TM_GPCR_Srsx	41	211	7.5e-11	PFAM
Pfam:7tm_1	47	299	2.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094124
AA Change: R195H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
AA Change: R195H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	6.2e-117	PFAM
Pfam:7TM_GPCR_Srsx	37	308	2.4e-7	PFAM
Pfam:7tm_1	43	293	2.4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210002

Predicted Effect

probably benign
Transcript: ENSMUST00000216312

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,341,817 (GRCm39)	V1048A	probably benign	Het
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Arhgef26	T	C	3: 62,367,097 (GRCm39)	V810A	probably benign	Het
Atf1	T	A	15: 100,152,322 (GRCm39)	V105E	probably damaging	Het
Bbs9	C	T	9: 22,490,772 (GRCm39)	T300I	possibly damaging	Het
Bltp1	T	C	3: 37,059,022 (GRCm39)	V3236A	probably damaging	Het
Brd7	G	T	8: 89,078,452 (GRCm39)	H226Q	probably benign	Het
Cadps	T	C	14: 12,705,681 (GRCm38)	K238R	probably damaging	Het
Chordc1	A	G	9: 18,213,388 (GRCm39)	T80A	possibly damaging	Het
Clca4a	A	T	3: 144,676,155 (GRCm39)	C126*	probably null	Het
Col24a1	A	T	3: 145,020,723 (GRCm39)	T365S	probably benign	Het
Crb1	C	T	1: 139,164,965 (GRCm39)	G1053D	probably damaging	Het
Creb3l4	A	T	3: 90,150,082 (GRCm39)	S20T	probably benign	Het
Cyp2c67	C	T	19: 39,637,446 (GRCm39)	C10Y	possibly damaging	Het
Dhdh	A	T	7: 45,125,041 (GRCm39)	C294S	probably damaging	Het
Fam135a	A	G	1: 24,063,861 (GRCm39)		probably null	Het
Fsd1	G	T	17: 56,297,244 (GRCm39)		probably benign	Het
Gatad2b	A	G	3: 90,262,978 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,680,382 (GRCm39)	D232G	probably damaging	Het
Gm10553	T	C	1: 85,078,015 (GRCm39)	L44P	probably damaging	Het
Hecw1	T	C	13: 14,438,734 (GRCm39)	Y883C	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Ift172	T	C	5: 31,438,681 (GRCm39)		probably benign	Het
Krtcap3	A	C	5: 31,409,397 (GRCm39)	T55P	probably damaging	Het
Megf6	A	G	4: 154,355,149 (GRCm39)	D1488G	probably damaging	Het
Mrpl1	T	C	5: 96,379,574 (GRCm39)	V203A	probably damaging	Het
Myh2	A	T	11: 67,079,878 (GRCm39)	D1084V	possibly damaging	Het
Necap2	T	A	4: 140,805,621 (GRCm39)		probably benign	Het
Nemp1	A	G	10: 127,528,868 (GRCm39)	S191G	probably benign	Het
Nrip1	T	C	16: 76,088,380 (GRCm39)	D1059G	probably damaging	Het
Ntrk3	A	T	7: 78,110,020 (GRCm39)		probably benign	Het
Or51f1d	A	G	7: 102,700,582 (GRCm39)	I26V	probably benign	Het
Prkdc	T	G	16: 15,627,623 (GRCm39)	V3427G	probably benign	Het
Ptprn2	A	T	12: 116,837,317 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,397,422 (GRCm39)	L1095H	probably damaging	Het
Ren1	T	A	1: 133,286,771 (GRCm39)	L300Q	possibly damaging	Het
Rgl3	A	G	9: 21,888,134 (GRCm39)	I460T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Runx1t1	A	C	4: 13,859,924 (GRCm39)	Q265P	probably benign	Het
Sh3d21	A	G	4: 126,046,153 (GRCm39)	S282P	probably benign	Het
Slc39a13	T	C	2: 90,893,505 (GRCm39)	E318G	possibly damaging	Het
Srd5a3	T	C	5: 76,295,556 (GRCm39)	I82T	probably benign	Het
Stard7	C	A	2: 127,132,792 (GRCm39)	T220N	probably damaging	Het
Tbx4	G	A	11: 85,805,389 (GRCm39)	G493R	possibly damaging	Het
Trerf1	A	T	17: 47,628,743 (GRCm39)		noncoding transcript	Het
Trim59	T	A	3: 68,944,810 (GRCm39)	I177L	probably benign	Het
Trpm7	T	C	2: 126,637,248 (GRCm39)	M1789V	possibly damaging	Het
Tsc22d1	T	C	14: 76,655,132 (GRCm39)	V455A	probably benign	Het
Vmn2r118	C	A	17: 55,931,598 (GRCm39)	M25I	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr90	G	A	17: 26,069,408 (GRCm39)	T1233I	probably benign	Het
Zcchc2	G	A	1: 105,928,664 (GRCm39)	D308N	probably benign	Het
Zfp57	G	T	17: 37,320,481 (GRCm39)	V112L	possibly damaging	Het
Zfp874b	A	T	13: 67,622,135 (GRCm39)	Y388N	probably damaging	Het

Other mutations in Or51e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Or51e1	APN	7	102,358,772 (GRCm39)	missense	probably damaging	0.99
IGL01925:Or51e1	APN	7	102,359,410 (GRCm39)	missense	probably damaging	0.98
R0197:Or51e1	UTSW	7	102,359,202 (GRCm39)	missense	probably damaging	1.00
R0883:Or51e1	UTSW	7	102,359,202 (GRCm39)	missense	probably damaging	1.00
R1870:Or51e1	UTSW	7	102,358,961 (GRCm39)	missense	possibly damaging	0.92
R2894:Or51e1	UTSW	7	102,358,882 (GRCm39)	missense	probably damaging	0.99
R4033:Or51e1	UTSW	7	102,358,697 (GRCm39)	missense	probably damaging	1.00
R4695:Or51e1	UTSW	7	102,358,764 (GRCm39)	missense	probably damaging	1.00
R4738:Or51e1	UTSW	7	102,359,378 (GRCm39)	missense	probably damaging	1.00
R4739:Or51e1	UTSW	7	102,359,378 (GRCm39)	missense	probably damaging	1.00
R4740:Or51e1	UTSW	7	102,359,378 (GRCm39)	missense	probably damaging	1.00
R4901:Or51e1	UTSW	7	102,359,405 (GRCm39)	missense	probably benign	0.00
R5187:Or51e1	UTSW	7	102,358,868 (GRCm39)	missense	probably damaging	1.00
R5385:Or51e1	UTSW	7	102,358,553 (GRCm39)	missense	probably damaging	1.00
R5529:Or51e1	UTSW	7	102,358,900 (GRCm39)	nonsense	probably null
R6666:Or51e1	UTSW	7	102,359,135 (GRCm39)	splice site	probably null
R7318:Or51e1	UTSW	7	102,359,226 (GRCm39)	nonsense	probably null
R7453:Or51e1	UTSW	7	102,358,724 (GRCm39)	missense	probably damaging	0.99
R7546:Or51e1	UTSW	7	102,358,996 (GRCm39)	missense	probably damaging	1.00
R7643:Or51e1	UTSW	7	102,358,745 (GRCm39)	missense	probably benign	0.00
R8387:Or51e1	UTSW	7	102,359,402 (GRCm39)	missense	probably benign
R8984:Or51e1	UTSW	7	102,359,219 (GRCm39)	missense	possibly damaging	0.60
R9154:Or51e1	UTSW	7	102,358,541 (GRCm39)	missense	probably benign

Posted On

2015-04-16