Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Olfr1167'

422909

Institutional Source

Beutler Lab

Gene Symbol

Olfr1167

Ensembl Gene

ENSMUSG00000100899

Gene Name

olfactory receptor 1167

Synonyms

MOR174-16, GA_x6K02T2Q125-49641892-49640942

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88146150-88155193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88149802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 72 (D72E)

Ref Sequence

ENSEMBL: ENSMUSP00000149599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099832] [ENSMUST00000216951]

AlphaFold

Q7TR26

Predicted Effect

probably damaging
Transcript: ENSMUST00000099832
AA Change: D72E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097420
Gene: ENSMUSG00000100899
AA Change: D72E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	1.3e-47	PFAM
Pfam:7tm_1	43	292	3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216951
AA Change: D72E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Olfr1167

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Olfr1167	APN	2	88149260	missense	possibly damaging	0.55
IGL01525:Olfr1167	APN	2	88149877	missense	probably benign	0.15
IGL02008:Olfr1167	APN	2	88149578	missense	probably damaging	1.00
IGL02116:Olfr1167	APN	2	88149288	missense	probably benign	0.03
IGL02740:Olfr1167	APN	2	88149257	missense	probably damaging	1.00
IGL03493:Olfr1167	APN	2	88149936	missense	probably benign	0.02
PIT4498001:Olfr1167	UTSW	2	88149915	missense	probably benign	0.00
R1951:Olfr1167	UTSW	2	88149297	missense	possibly damaging	0.50
R2060:Olfr1167	UTSW	2	88149143	missense	probably damaging	1.00
R4167:Olfr1167	UTSW	2	88149845	missense	probably damaging	0.97
R4168:Olfr1167	UTSW	2	88149845	missense	probably damaging	0.97
R4244:Olfr1167	UTSW	2	88149288	missense	probably benign	0.00
R5778:Olfr1167	UTSW	2	88149617	missense	probably damaging	1.00
R5939:Olfr1167	UTSW	2	88149509	missense	probably damaging	1.00
R6502:Olfr1167	UTSW	2	88150016	start codon destroyed	probably null	0.37
R7036:Olfr1167	UTSW	2	88149125	missense	probably damaging	0.99
R7104:Olfr1167	UTSW	2	88149372	missense	possibly damaging	0.65
R7340:Olfr1167	UTSW	2	88149276	missense	possibly damaging	0.95
R7481:Olfr1167	UTSW	2	88149761	missense	probably benign	0.12
R7615:Olfr1167	UTSW	2	88149518	missense	probably benign	0.01
R8684:Olfr1167	UTSW	2	88149528	missense	probably benign	0.16
R9030:Olfr1167	UTSW	2	88149374	missense	possibly damaging	0.80
R9189:Olfr1167	UTSW	2	88149564	missense	probably benign
R9598:Olfr1167	UTSW	2	88149591	missense	probably damaging	0.99
R9641:Olfr1167	UTSW	2	88149911	missense	possibly damaging	0.94
R9751:Olfr1167	UTSW	2	88149270	missense	probably benign	0.13
X0050:Olfr1167	UTSW	2	88149696	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTACTAGCAGAGCACAGAATTG -3'
(R):5'- TCTTGGTCGGTTTCTCAGAATATC -3'

Sequencing Primer
(F):5'- GAGCACAGAATTGTATAGGCATTAC -3'
(R):5'- GGTCGGTTTCTCAGAATATCCACAG -3'

Posted On

2016-08-04