Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Olfr1366'

383740

Institutional Source

Beutler Lab

Gene Symbol

Olfr1366

Ensembl Gene

ENSMUSG00000048996

Gene Name

olfactory receptor 1366

Synonyms

MOR130-2, GA_x6K02T2QHY8-11707053-11707994

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21535113-21542808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21537982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 8 (Y8H)

Ref Sequence

ENSEMBL: ENSMUSP00000151506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168629] [ENSMUST00000175637] [ENSMUST00000205976] [ENSMUST00000218154]

AlphaFold

A0A1W2P740

Predicted Effect

probably benign
Transcript: ENSMUST00000168629

SMART Domains

Protein: ENSMUSP00000132776
Gene: ENSMUSG00000048996

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
Pfam:7tm_4	46	323	1.1e-59	PFAM
Pfam:7TM_GPCR_Srsx	50	320	4e-7	PFAM
Pfam:7tm_1	56	305	1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175637

SMART Domains

Protein: ENSMUSP00000135446
Gene: ENSMUSG00000048996

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	35	231	3e-7	PFAM
Pfam:7tm_1	41	237	8.7e-33	PFAM
Pfam:7tm_4	139	240	2.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205976

Predicted Effect

probably damaging
Transcript: ENSMUST00000218154
AA Change: Y8H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	Het

Other mutations in Olfr1366

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Olfr1366	APN	13	21537942	missense	possibly damaging	0.50
IGL02827:Olfr1366	APN	13	21537358	missense	probably benign	0.43
R0528:Olfr1366	UTSW	13	21537246	missense	possibly damaging	0.95
R1650:Olfr1366	UTSW	13	21537079	missense	probably damaging	1.00
R2168:Olfr1366	UTSW	13	21537252	missense	probably damaging	1.00
R4936:Olfr1366	UTSW	13	21537187	missense	probably benign	0.00
R8117:Olfr1366	UTSW	13	21537952	missense	probably benign
R9272:Olfr1366	UTSW	13	21537694	missense	possibly damaging	0.69
X0028:Olfr1366	UTSW	13	21537774	missense	probably damaging	1.00
Z1177:Olfr1366	UTSW	13	21537249	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGTGATTGTTTGAACCAATGGC -3'
(R):5'- CTGATGATGTTGAGCCTAAAGC -3'

Sequencing Primer
(F):5'- GTTTGAACCAATGGCTAACAAGATG -3'
(R):5'- GTCATAAAGACAACAGATGGGAC -3'

Posted On

2016-04-27