Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02035:Olfr812'

184483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr812

Ensembl Gene

ENSMUSG00000049052

Gene Name

olfactory receptor 812

Synonyms

GA_x6K02T2PULF-11521598-11520666, MOR110-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02035

Quality Score

Status

Chromosome

Chromosomal Location

129841418-129846094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129842790 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 84 (L84P)

Ref Sequence

ENSEMBL: ENSMUSP00000145482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057775] [ENSMUST00000203571] [ENSMUST00000205013]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057775
AA Change: L84P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: L84P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.3e-50	PFAM
Pfam:7tm_1	39	288	9.5e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203571
AA Change: L84P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: L84P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.3e-50	PFAM
Pfam:7tm_1	39	288	9.5e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205013
AA Change: L84P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: L84P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	1.3e-44	PFAM
Pfam:7tm_1	39	288	4.1e-23	PFAM

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	G	T	17: 25,947,162	H384N	probably benign	Het
Ahctf1	A	T	1: 179,766,014	I1135N	probably benign	Het
Atl1	A	G	12: 69,960,544		probably benign	Het
Atr	A	G	9: 95,866,682	N427D	probably benign	Het
Chd2	T	C	7: 73,441,627		probably null	Het
Cnot4	A	T	6: 35,070,251	V142D	probably damaging	Het
Ctnnd1	A	T	2: 84,620,081	V265E	probably damaging	Het
Ddx27	G	T	2: 167,029,512	V510F	probably benign	Het
Elac2	A	G	11: 65,001,835	S822G	probably benign	Het
Fat3	A	T	9: 16,377,970	F86I	probably benign	Het
Fbn1	T	A	2: 125,335,362		probably null	Het
Fgd4	C	T	16: 16,490,416		probably benign	Het
Furin	T	C	7: 80,390,987	E701G	probably benign	Het
Fzd2	A	G	11: 102,606,444	*571W	probably null	Het
Gm9	A	T	X: 37,210,891	H3Q	probably benign	Het
Jak2	T	C	19: 29,286,408	V441A	probably benign	Het
Kcnj3	T	A	2: 55,437,578	N126K	probably damaging	Het
Lca5	T	C	9: 83,423,312	E147G	probably damaging	Het
Magt1	G	T	X: 105,983,776		probably null	Het
Nkx6-2	A	T	7: 139,581,685	W195R	probably damaging	Het
Nt5c1a	A	T	4: 123,214,102	S193C	possibly damaging	Het
Os9	G	A	10: 127,096,291	P604S	possibly damaging	Het
Pecam1	C	T	11: 106,695,859	A277T	probably benign	Het
Polr1c	A	G	17: 46,246,159	V66A	possibly damaging	Het
Proser1	T	C	3: 53,478,830	V711A	probably benign	Het
Sbp	A	G	17: 23,942,612	N19S	possibly damaging	Het
Sh3bp4	A	G	1: 89,143,690	T87A	probably benign	Het
Vmn1r59	A	T	7: 5,454,209	I184N	possibly damaging	Het
Zcchc14	T	C	8: 121,604,615		probably benign	Het

Other mutations in Olfr812

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Olfr812	APN	10	129842473	missense	probably damaging	1.00
IGL01637:Olfr812	APN	10	129842610	missense	probably benign	0.14
IGL02546:Olfr812	APN	10	129842547	missense	probably damaging	0.97
R1902:Olfr812	UTSW	10	129842506	missense	probably benign
R4583:Olfr812	UTSW	10	129842475	missense	probably damaging	1.00
R4598:Olfr812	UTSW	10	129842995	missense	possibly damaging	0.92
R4714:Olfr812	UTSW	10	129842945	missense	probably damaging	0.99
R5196:Olfr812	UTSW	10	129842781	missense	possibly damaging	0.90
R5953:Olfr812	UTSW	10	129842614	missense	probably benign	0.22
R6311:Olfr812	UTSW	10	129842907	missense	possibly damaging	0.88
R6356:Olfr812	UTSW	10	129842608	missense	probably benign	0.14
R6499:Olfr812	UTSW	10	129842584	missense	probably benign	0.00

Posted On

2014-05-07