Mutagenetix > Incidental Mutation

Incidental Mutation 'R1906:Olfr1333'

214359

Institutional Source

Beutler Lab

Gene Symbol

Olfr1333

Ensembl Gene

ENSMUSG00000110947

Gene Name

olfactory receptor 1333

Synonyms

MOR259-11, GA_x6K02T2QD9B-18703033-18703986, MOR259-6

MMRRC Submission

039925-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118827659-118836279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118830270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 56 (H56Y)

Ref Sequence

ENSEMBL: ENSMUSP00000154759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076019] [ENSMUST00000106361] [ENSMUST00000214477]

AlphaFold

Q7TQV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076019
AA Change: H57Y

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

SMART Domains

Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: H57Y

Domain	Start	End	E-Value	Type
Pfam:7tm_1	42	291	4.1e-31	PFAM
Pfam:7tm_4	140	284	2.9e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106361
AA Change: H58Y

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

SMART Domains

Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: H58Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	6.1e-56	PFAM
Pfam:7tm_1	43	292	3.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214477
AA Change: H56Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214477
AA Change: H56Y

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,072,985	T923I	probably benign	Het
Abhd13	T	A	8: 9,988,170	C256S	probably benign	Het
Adamts5	C	T	16: 85,868,685	W576*	probably null	Het
Adnp	A	T	2: 168,182,367	S1003T	probably benign	Het
AI987944	C	T	7: 41,375,126	R146Q	probably benign	Het
Apol6	G	T	15: 77,050,860	V110F	probably damaging	Het
Arhgap27	A	G	11: 103,332,925	F651L	probably damaging	Het
Atm	T	C	9: 53,506,568	D813G	probably damaging	Het
Casd1	T	A	6: 4,641,979	I752N	probably damaging	Het
Cdr2	A	G	7: 120,982,001	Y18H	probably damaging	Het
Cntn4	T	C	6: 106,353,646	F75S	probably benign	Het
Col20a1	G	A	2: 180,998,697	R549H	probably benign	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Ddx58	T	C	4: 40,206,054	K846R	probably benign	Het
Dnah10	T	A	5: 124,800,984	V2654D	probably damaging	Het
Dnph1	A	T	17: 46,496,861	I18F	probably damaging	Het
Dsn1	G	A	2: 156,996,243	R334W	probably damaging	Het
Egf	T	A	3: 129,725,224	K325N	probably benign	Het
Eps15	T	G	4: 109,324,201	S311A	possibly damaging	Het
Fmo3	G	T	1: 162,966,906	D198E	probably damaging	Het
Folh1	C	G	7: 86,742,166		probably null	Het
Foxn1	A	G	11: 78,371,810		probably null	Het
Gm10604	T	G	4: 11,979,989	D105A	unknown	Het
Gpx8	A	G	13: 113,045,576	C108R	probably damaging	Het
Herc2	A	T	7: 56,114,864	I1013L	probably benign	Het
Hyal4	T	G	6: 24,756,111	N109K	probably damaging	Het
Il22ra1	T	G	4: 135,751,233	C538W	probably damaging	Het
Ints13	A	T	6: 146,552,370		probably null	Het
Krt75	T	A	15: 101,573,366	T156S	possibly damaging	Het
Lama2	A	C	10: 27,056,527		probably null	Het
Lifr	G	T	15: 7,188,131	V847L	probably damaging	Het
Lmf1	T	A	17: 25,612,335	I185N	probably damaging	Het
Mast1	G	A	8: 84,916,266	R967C	probably damaging	Het
Ms4a15	T	C	19: 10,983,280	I94V	probably benign	Het
Mycbpap	A	T	11: 94,505,621	M131K	probably benign	Het
Ncor1	A	T	11: 62,349,385	M920K	possibly damaging	Het
Neb	A	G	2: 52,308,526	Y437H	probably damaging	Het
Npy5r	A	T	8: 66,681,473	W223R	probably damaging	Het
Olfr1219	A	G	2: 89,075,070	V7A	possibly damaging	Het
Olfr248	C	A	1: 174,391,164	L32M	probably damaging	Het
Olfr804	T	G	10: 129,705,496	V206G	probably benign	Het
Polg	T	C	7: 79,460,322	K353E	probably damaging	Het
Proz	C	G	8: 13,073,686		probably null	Het
Pus7	T	C	5: 23,778,211	D86G	probably damaging	Het
Rhpn1	T	C	15: 75,711,824	V386A	probably benign	Het
Sptbn4	A	G	7: 27,391,431		probably null	Het
Srp68	A	T	11: 116,250,761	I424N	probably damaging	Het
Stard9	A	G	2: 120,696,427	E1055G	probably benign	Het
Taf4b	A	G	18: 14,822,102	I571V	probably benign	Het
Tas2r107	T	C	6: 131,659,988	M33V	probably benign	Het
Thap12	T	C	7: 98,716,740	L705P	probably damaging	Het
Tom1	T	C	8: 75,051,590	V100A	probably damaging	Het
Tox3	A	G	8: 90,248,429		probably benign	Het
Vmn2r82	A	G	10: 79,396,510	N781S	probably damaging	Het
Vwa5b1	A	T	4: 138,600,236	V343E	possibly damaging	Het
Zbbx	A	G	3: 75,071,740	Y467H	probably damaging	Het
Zbtb46	G	A	2: 181,423,839	R173W	probably damaging	Het
Zfp112	A	G	7: 24,122,295	D20G	probably benign	Het
Zfp777	A	C	6: 48,042,061	M313R	probably damaging	Het

Other mutations in Olfr1333

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Olfr1333	APN	4	118829792	missense	probably benign	0.30
IGL03023:Olfr1333	APN	4	118830252	missense	probably damaging	0.99
IGL03387:Olfr1333	APN	4	118830041	missense	probably damaging	1.00
R0326:Olfr1333	UTSW	4	118829825	missense	possibly damaging	0.90
R0532:Olfr1333	UTSW	4	118829700	missense	probably damaging	1.00
R1775:Olfr1333	UTSW	4	118829868	missense	probably benign	0.00
R1946:Olfr1333	UTSW	4	118830026	missense	probably benign	0.00
R2260:Olfr1333	UTSW	4	118830162	missense	probably damaging	1.00
R5084:Olfr1333	UTSW	4	118829570	missense	probably damaging	1.00
R5337:Olfr1333	UTSW	4	118829666	missense	probably benign	0.44
R5444:Olfr1333	UTSW	4	118830111	missense	probably benign
R5817:Olfr1333	UTSW	4	118830099	missense	probably damaging	0.96
R5973:Olfr1333	UTSW	4	118830216	missense	probably benign	0.22
R5987:Olfr1333	UTSW	4	118830281	missense	probably damaging	0.96
R6031:Olfr1333	UTSW	4	118830391	splice site	probably null
R6031:Olfr1333	UTSW	4	118830391	splice site	probably null
R7255:Olfr1333	UTSW	4	118829952	missense	probably benign	0.17
R7483:Olfr1333	UTSW	4	118830320	missense	probably damaging	0.98
R8214:Olfr1333	UTSW	4	118830091	missense	probably benign
R8479:Olfr1333	UTSW	4	118830015	missense	probably damaging	1.00
R8847:Olfr1333	UTSW	4	118829624	missense	probably damaging	0.97
R9661:Olfr1333	UTSW	4	118830329	missense	probably benign	0.45
Z1176:Olfr1333	UTSW	4	118830050	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCAGTGGATAGCAAATGGC -3'
(R):5'- TTTCGATGATTCCAGGGCAG -3'

Sequencing Primer
(F):5'- TGGCCACATACCGGTCATAAG -3'
(R):5'- TTCCAGGGCAGAACCAAAGTTG -3'

Posted On

2014-07-14