Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01933:Or5an1'

180479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5an1

Ensembl Gene

ENSMUSG00000095640

Gene Name

olfactory receptor family 5 subfamily AN member 1

Synonyms

GA_x6K02T2RE5P-2610001-2610414, Olfr1433, MOR214-4, GA_x6K02T2RE5P-2618516-2619454, Olfr1434, MOR214-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

IGL01933

Quality Score

Status

Chromosome

Chromosomal Location

12257218-12261352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12261069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 219 (Y219F)

Ref Sequence

ENSEMBL: ENSMUSP00000146411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207186] [ENSMUST00000207915] [ENSMUST00000208197]

AlphaFold

Q7TQR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000087814
AA Change: Y219F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085115
Gene: ENSMUSG00000095640
AA Change: Y219F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	9.2e-55	PFAM
Pfam:7tm_1	42	307	2.5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207186
AA Change: Y219F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000207915

Predicted Effect

probably damaging
Transcript: ENSMUST00000208197
AA Change: Y219F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,650 (GRCm39)	V575F	possibly damaging	Het
Abca2	T	A	2: 25,334,123 (GRCm39)	V1800E	probably damaging	Het
Acacb	C	T	5: 114,322,251 (GRCm39)		probably benign	Het
Adam34	C	A	8: 44,104,569 (GRCm39)	G359W	probably damaging	Het
Ankrd42	G	A	7: 92,254,493 (GRCm39)	T372I	probably benign	Het
Apc2	A	G	10: 80,147,574 (GRCm39)	D847G	probably damaging	Het
Arap3	T	A	18: 38,111,506 (GRCm39)	T1137S	possibly damaging	Het
Atp10b	A	C	11: 43,085,457 (GRCm39)	T279P	probably damaging	Het
Bmp2	T	A	2: 133,396,578 (GRCm39)	M78K	possibly damaging	Het
Ccdc61	T	G	7: 18,626,483 (GRCm39)	M369L	probably benign	Het
Cep78	A	T	19: 15,933,304 (GRCm39)	I758N	probably benign	Het
Ces2a	A	G	8: 105,468,047 (GRCm39)	*526W	probably null	Het
Cgnl1	C	T	9: 71,552,765 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,104 (GRCm39)	Y173H	probably damaging	Het
Cntn4	G	A	6: 106,671,345 (GRCm39)	S976N	probably damaging	Het
Col6a4	G	A	9: 105,937,313 (GRCm39)	T1401I	probably benign	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dixdc1	G	A	9: 50,614,558 (GRCm39)	R163*	probably null	Het
Dmxl1	C	A	18: 50,010,852 (GRCm39)	T1003K	probably benign	Het
Dnah1	G	A	14: 31,032,872 (GRCm39)	R388W	probably benign	Het
Eci3	C	T	13: 35,132,772 (GRCm39)	A202T	probably damaging	Het
Egr2	T	C	10: 67,376,024 (GRCm39)	S220P	probably damaging	Het
Fntb	C	T	12: 76,966,880 (GRCm39)	P405S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm26602	C	A	10: 79,746,955 (GRCm39)	R236L	probably benign	Het
Hao2	T	C	3: 98,787,648 (GRCm39)		probably benign	Het
Irgm2	A	T	11: 58,110,783 (GRCm39)	N170I	possibly damaging	Het
Klhl20	G	A	1: 160,934,357 (GRCm39)	R221W	probably damaging	Het
Kmt2b	A	G	7: 30,268,939 (GRCm39)		probably null	Het
Lrrc46	C	T	11: 96,926,354 (GRCm39)	E181K	probably benign	Het
Lztr1	T	A	16: 17,338,455 (GRCm39)	V226E	probably damaging	Het
Myh9	G	T	15: 77,665,418 (GRCm39)	D684E	probably benign	Het
Myo7a	T	C	7: 97,732,349 (GRCm39)	T713A	probably damaging	Het
Nrap	G	T	19: 56,377,250 (GRCm39)	N62K	probably damaging	Het
Or51a10	T	C	7: 103,699,021 (GRCm39)	Y180C	probably damaging	Het
Osbp2	T	C	11: 3,662,016 (GRCm39)	D708G	probably damaging	Het
Pcnx2	G	A	8: 126,488,393 (GRCm39)	P1717L	probably damaging	Het
Pex1	A	G	5: 3,683,789 (GRCm39)	D1095G	probably damaging	Het
Ptpn3	T	C	4: 57,197,576 (GRCm39)	H771R	probably benign	Het
R3hcc1l	G	A	19: 42,551,389 (GRCm39)	A129T	probably damaging	Het
Rbm15	G	A	3: 107,238,419 (GRCm39)	R660W	probably damaging	Het
Recql	C	T	6: 142,310,364 (GRCm39)	V489M	probably benign	Het
Sash1	A	T	10: 8,626,897 (GRCm39)	S162R	probably damaging	Het
Sec11a	T	C	7: 80,584,810 (GRCm39)	I42M	probably benign	Het
Slc25a23	G	A	17: 57,359,813 (GRCm39)	Q61*	probably null	Het
Son	A	T	16: 91,454,903 (GRCm39)	M1217L	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,339,593 (GRCm39)	N123S	probably damaging	Het
Ssh1	T	C	5: 114,088,441 (GRCm39)		probably benign	Het
St13	T	C	15: 81,273,899 (GRCm39)		probably null	Het
St3gal3	A	T	4: 117,889,072 (GRCm39)	D57E	probably damaging	Het
Stk4	C	T	2: 163,940,505 (GRCm39)		probably benign	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Tln1	T	C	4: 43,555,894 (GRCm39)	T107A	possibly damaging	Het
Tmem135	G	T	7: 88,793,065 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,467 (GRCm39)	M696T	probably benign	Het
Trbv28	T	A	6: 41,248,761 (GRCm39)	L97Q	probably damaging	Het
Trpc4ap	A	T	2: 155,481,455 (GRCm39)	F534I	possibly damaging	Het
Trpm8	T	C	1: 88,254,127 (GRCm39)	Y117H	probably damaging	Het
Zfp608	T	C	18: 55,120,871 (GRCm39)	T239A	probably benign	Het
Zmym5	T	G	14: 57,041,617 (GRCm39)	H162P	probably damaging	Het

Other mutations in Or5an1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02415:Or5an1	APN	19	12,260,862 (GRCm39)	missense	probably benign	0.44
IGL02731:Or5an1	APN	19	12,261,206 (GRCm39)	missense	probably damaging	0.99
IGL02803:Or5an1	APN	19	12,261,347 (GRCm39)	missense	possibly damaging	0.94
IGL03050:Or5an1	UTSW	19	12,260,876 (GRCm39)	missense	probably benign
R0432:Or5an1	UTSW	19	12,261,267 (GRCm39)	missense	probably damaging	1.00
R2209:Or5an1	UTSW	19	12,261,224 (GRCm39)	missense	probably benign	0.41
R3710:Or5an1	UTSW	19	12,260,450 (GRCm39)	missense	probably damaging	1.00
R4724:Or5an1	UTSW	19	12,260,460 (GRCm39)	missense	probably damaging	1.00
R5133:Or5an1	UTSW	19	12,260,670 (GRCm39)	missense	possibly damaging	0.96
R5974:Or5an1	UTSW	19	12,261,200 (GRCm39)	missense	probably damaging	1.00
R6544:Or5an1	UTSW	19	12,260,519 (GRCm39)	missense	probably damaging	1.00
R7225:Or5an1	UTSW	19	12,260,831 (GRCm39)	missense	probably benign	0.00
R7320:Or5an1	UTSW	19	12,261,180 (GRCm39)	missense	possibly damaging	0.72
R7467:Or5an1	UTSW	19	12,260,839 (GRCm39)	nonsense	probably null
R7900:Or5an1	UTSW	19	12,260,705 (GRCm39)	missense	probably damaging	1.00
R8719:Or5an1	UTSW	19	12,260,792 (GRCm39)	missense	probably benign	0.13
R9135:Or5an1	UTSW	19	12,260,808 (GRCm39)	missense	probably damaging	1.00
R9324:Or5an1	UTSW	19	12,260,939 (GRCm39)	missense	probably benign	0.30

Posted On

2014-05-07