Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03107:Olfr801'

419002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr801

Ensembl Gene

ENSMUSG00000058513

Gene Name

olfactory receptor 801

Synonyms

GA_x6K02T2PULF-11349138-11348182, MOR110-10

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03107

Quality Score

Status

Chromosome

Chromosomal Location

129666989-129673865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129669940 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 193 (M193T)

Ref Sequence

ENSEMBL: ENSMUSP00000149555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072063] [ENSMUST00000203424] [ENSMUST00000213294] [ENSMUST00000216067]

Predicted Effect

probably benign
Transcript: ENSMUST00000072063
AA Change: M193T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071941
Gene: ENSMUSG00000058513
AA Change: M193T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.2e-51	PFAM
Pfam:7tm_1	39	288	8.8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203321

Predicted Effect

probably benign
Transcript: ENSMUST00000203424

SMART Domains

Protein: ENSMUSP00000145011
Gene: ENSMUSG00000058513

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	96	5.9e-18	PFAM
Pfam:7tm_1	2	96	1.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213294
AA Change: M193T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216067
AA Change: M193T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	A	11: 29,824,360	I366F	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,768		noncoding transcript	Het
Angpt4	A	G	2: 151,943,422	M453V	probably benign	Het
Atr	T	A	9: 95,897,730	D1380E	probably benign	Het
Carmil1	A	T	13: 24,094,455	M177K	probably damaging	Het
Cenpk	T	A	13: 104,242,772	I203N	probably damaging	Het
Cerk	A	T	15: 86,142,813	N165K	probably benign	Het
Col27a1	G	A	4: 63,324,632		probably benign	Het
Crb2	A	T	2: 37,791,416	D757V	probably benign	Het
Csnk1a1	A	G	18: 61,568,305	D91G	probably damaging	Het
Dnajc6	G	T	4: 101,616,860	W486L	probably damaging	Het
Elmod1	C	T	9: 53,934,223		probably benign	Het
Ercc3	G	T	18: 32,248,307	R392L	possibly damaging	Het
Fam135b	C	T	15: 71,463,561	V595I	probably benign	Het
Fermt1	A	T	2: 132,933,139	S256T	probably damaging	Het
Fstl5	G	T	3: 76,536,311	C321F	probably damaging	Het
Gpatch1	T	G	7: 35,303,317	N256T	probably benign	Het
Gpd2	T	A	2: 57,355,569	S425R	probably damaging	Het
Igkv4-57-1	T	G	6: 69,544,590	M43L	probably benign	Het
Itgae	A	G	11: 73,113,601	Q238R	probably damaging	Het
Lats1	T	A	10: 7,712,746	D1042E	probably benign	Het
Lcn8	G	A	2: 25,655,365	G156D	probably damaging	Het
Loxl4	A	C	19: 42,605,279	V224G	probably benign	Het
Lrp2	T	A	2: 69,454,833	D3827V	probably damaging	Het
Neb	C	A	2: 52,183,825	R231S	probably benign	Het
Olfr123	G	A	17: 37,795,788	V115I	probably benign	Het
Olfr1458	A	T	19: 13,103,037	M89K	probably benign	Het
Olfr213	T	G	6: 116,540,939	M162R	possibly damaging	Het
Olfr969	T	G	9: 39,796,179	M268R	probably benign	Het
Pappa	T	G	4: 65,204,703	S758R	probably damaging	Het
Pced1a	G	A	2: 130,422,835	T61I	possibly damaging	Het
Pik3cg	T	C	12: 32,200,595	D731G	probably damaging	Het
Plxnb1	G	A	9: 109,104,986	D761N	probably benign	Het
Pmp22	T	C	11: 63,158,309	V126A	probably benign	Het
Ppp6r2	G	T	15: 89,268,545	R296S	probably damaging	Het
Prkcq	A	C	2: 11,260,786	H438P	probably damaging	Het
Ryr1	T	A	7: 29,075,199	Y2339F	probably damaging	Het
Scaper	T	C	9: 55,858,402		probably benign	Het
Scp2	T	A	4: 108,098,115	I144F	probably benign	Het
Secisbp2	T	C	13: 51,652,757		probably null	Het
Sema5a	T	A	15: 32,669,408	Y693N	probably damaging	Het
Sin3b	T	A	8: 72,753,585	I905K	probably damaging	Het
Slc13a3	T	A	2: 165,437,307	M195L	probably benign	Het
Strada	A	G	11: 106,164,037		probably benign	Het
Stx18	G	A	5: 38,136,311	V294M	probably damaging	Het
Tbpl2	A	T	2: 24,093,833	N197K	probably benign	Het
Tdrd9	A	T	12: 112,042,840	H1060L	probably damaging	Het
Tm4sf5	G	A	11: 70,505,397	V23M	possibly damaging	Het
Tmem54	C	A	4: 129,110,912	L187I	probably damaging	Het
Tmprss5	A	G	9: 49,113,228	H281R	possibly damaging	Het
Trim30c	A	G	7: 104,382,613	Y332H	possibly damaging	Het
Uba6	T	A	5: 86,127,774		probably benign	Het
Unc80	C	A	1: 66,631,454	P1912Q	probably damaging	Het

Other mutations in Olfr801

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Olfr801	APN	10	129669887	missense	probably damaging	1.00
IGL02400:Olfr801	APN	10	129669883	missense	probably damaging	0.99
IGL02721:Olfr801	APN	10	129670123	missense	probably benign	0.08
R0114:Olfr801	UTSW	10	129669598	missense	probably benign
R0140:Olfr801	UTSW	10	129669688	missense	probably damaging	1.00
R0652:Olfr801	UTSW	10	129670379	missense	probably benign	0.08
R1375:Olfr801	UTSW	10	129670372	missense	probably null	0.97
R1449:Olfr801	UTSW	10	129670369	missense	probably damaging	0.99
R2026:Olfr801	UTSW	10	129670465	missense	probably damaging	1.00
R2241:Olfr801	UTSW	10	129669895	missense	probably damaging	1.00
R2516:Olfr801	UTSW	10	129670286	missense	probably damaging	1.00
R2869:Olfr801	UTSW	10	129669759	nonsense	probably null
R2869:Olfr801	UTSW	10	129669759	nonsense	probably null
R2870:Olfr801	UTSW	10	129669759	nonsense	probably null
R2870:Olfr801	UTSW	10	129669759	nonsense	probably null
R2873:Olfr801	UTSW	10	129669759	nonsense	probably null
R6562:Olfr801	UTSW	10	129670139	missense	probably damaging	1.00

Posted On

2016-08-02