Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03155:Olfr694'

411211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr694

Ensembl Gene

ENSMUSG00000064223

Gene Name

olfactory receptor 694

Synonyms

MOR283-9, GA_x6K02T2PBJ9-9067220-9066273

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

106684980-106691814 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106689239 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 164 (M164K)

Ref Sequence

ENSEMBL: ENSMUSP00000151027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052535] [ENSMUST00000082091] [ENSMUST00000216118] [ENSMUST00000216895]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052535
AA Change: M164K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057180
Gene: ENSMUSG00000064223
AA Change: M164K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.1e-43	PFAM
Pfam:7tm_1	41	290	9.1e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000082091
AA Change: M164K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080740
Gene: ENSMUSG00000064223
AA Change: M164K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.6e-6	PFAM
Pfam:7tm_1	41	290	7.1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208331

Predicted Effect

probably damaging
Transcript: ENSMUST00000216118
AA Change: M164K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216895
AA Change: M164K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	T	2: 131,546,081	R518H	probably benign	Het
Akr7a5	T	A	4: 139,314,526	C190*	probably null	Het
Cct2	A	T	10: 117,060,671	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,304,320	S123T	possibly damaging	Het
Crtap	T	C	9: 114,380,049	D309G	possibly damaging	Het
Csf2	T	C	11: 54,247,671	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,139,459	I287N	probably damaging	Het
Dyrk1b	G	A	7: 28,182,687	D98N	probably benign	Het
Eif4g1	T	C	16: 20,692,417	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,727,075	E404G	possibly damaging	Het
Fryl	G	A	5: 73,076,695	P1496S	probably benign	Het
Fsip1	A	T	2: 118,251,739	N71K	probably benign	Het
Gm5092	A	T	17: 21,094,708		noncoding transcript	Het
Gnb1l	T	A	16: 18,540,532		probably null	Het
Got1l1	T	C	8: 27,199,332	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,409,232		probably null	Het
Kcnn2	A	G	18: 45,685,315	E493G	probably damaging	Het
Kif26b	C	T	1: 178,874,128	R691W	probably damaging	Het
Lrp2	A	T	2: 69,455,452		probably benign	Het
Mast3	A	G	8: 70,789,217	S107P	probably damaging	Het
Mrc1	A	G	2: 14,331,101	N1433D	probably benign	Het
Mycbp2	G	A	14: 103,155,453	S3114L	probably benign	Het
Naip6	T	A	13: 100,316,424	H43L	possibly damaging	Het
Nin	A	T	12: 70,031,770	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,592,052	V225M	probably damaging	Het
Olfr1233	A	T	2: 89,339,966	M112K	probably damaging	Het
Phf21a	T	G	2: 92,320,266	V64G	probably damaging	Het
Ptprd	A	T	4: 76,066,219	S800R	possibly damaging	Het
Scarf2	C	T	16: 17,807,549	P823S	probably benign	Het
Scn5a	T	C	9: 119,512,182	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 120,105,119	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,816,290	L370Q	probably null	Het
Tas1r2	T	C	4: 139,669,156	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,916,196		probably benign	Het
Tdrd6	A	T	17: 43,625,507	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,368,383	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,045,080	I249N	probably benign	Het
Tnxb	G	T	17: 34,713,595	V2263F	probably damaging	Het
Trim75	C	T	8: 64,983,340	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,943,976		probably null	Het
Tuft1	T	A	3: 94,634,514	I61L	possibly damaging	Het
Usp43	T	C	11: 67,876,489	D680G	probably damaging	Het
Vac14	A	G	8: 110,636,343	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,232,693	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,321,690	M147V	probably benign	Het
Vmn2r43	T	A	7: 8,255,069	I382L	possibly damaging	Het
Vmn2r63	C	T	7: 42,903,454	V793I	probably damaging	Het
Vopp1	A	G	6: 57,762,507	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,229,573		probably null	Het

Other mutations in Olfr694

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Olfr694	APN	7	106689531	missense	probably damaging	1.00
IGL01759:Olfr694	APN	7	106689333	missense	probably benign	0.04
IGL02435:Olfr694	APN	7	106689503	missense	probably benign	0.26
IGL02569:Olfr694	APN	7	106689642	missense	probably benign	0.19
IGL02611:Olfr694	APN	7	106688789	missense	probably benign	0.11
IGL02726:Olfr694	APN	7	106689370	nonsense	probably null
IGL02944:Olfr694	APN	7	106689269	missense	probably damaging	1.00
R0238:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0238:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0239:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0239:Olfr694	UTSW	7	106689255	missense	probably benign	0.00
R0609:Olfr694	UTSW	7	106688998	missense	probably damaging	1.00
R0655:Olfr694	UTSW	7	106689425	missense	probably damaging	1.00
R1562:Olfr694	UTSW	7	106688980	missense	probably benign	0.01
R1641:Olfr694	UTSW	7	106689711	missense	probably benign	0.36
R2144:Olfr694	UTSW	7	106688957	missense	probably damaging	0.99
R4416:Olfr694	UTSW	7	106689011	missense	probably benign	0.07
R4444:Olfr694	UTSW	7	106689146	missense	possibly damaging	0.60
R4445:Olfr694	UTSW	7	106689146	missense	possibly damaging	0.60
R4567:Olfr694	UTSW	7	106689213	nonsense	probably null
R4739:Olfr694	UTSW	7	106689144	nonsense	probably null
R4778:Olfr694	UTSW	7	106689667	missense	probably damaging	0.97
R4908:Olfr694	UTSW	7	106689533	missense	probably damaging	1.00
R5244:Olfr694	UTSW	7	106689189	missense	probably benign	0.12
R5944:Olfr694	UTSW	7	106689646	nonsense	probably null
R6260:Olfr694	UTSW	7	106688872	missense	probably damaging	1.00
R6573:Olfr694	UTSW	7	106689463	missense	probably benign	0.00
R6901:Olfr694	UTSW	7	106689189	missense	probably benign	0.03
R7230:Olfr694	UTSW	7	106689524	missense	possibly damaging	0.94
R7420:Olfr694	UTSW	7	106689020	missense	possibly damaging	0.74
R7426:Olfr694	UTSW	7	106689210	missense	possibly damaging	0.88
R8400:Olfr694	UTSW	7	106689669	missense	probably benign	0.25
U24488:Olfr694	UTSW	7	106689089	missense	probably damaging	1.00

Posted On

2016-08-02