Mutagenetix > Incidental Mutation

Incidental Mutation 'R0532:Olfr1333'

49219

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

038724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R0532 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118827659-118836279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118829700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 247 (T247P)

Ref Sequence

ENSEMBL: ENSMUSP00000075398 (fasta)

Gene Model

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

AlphaFold

Q7TQV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076019
AA Change: T247P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: T247P

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: T248P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: T248P

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: T246P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214477
AA Change: T246P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2587

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (90/90)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,638,618	E339V	possibly damaging	Het
9230009I02Rik	A	T	11: 51,091,578		noncoding transcript	Het
9230112D13Rik	A	T	14: 34,512,097	I79K	unknown	Het
Adam25	C	T	8: 40,755,950	T751I	probably benign	Het
Adgrv1	C	A	13: 81,578,896	V446L	probably damaging	Het
Afap1	C	A	5: 35,968,600	A313D	possibly damaging	Het
Akap6	A	G	12: 52,887,983	T753A	probably benign	Het
Aldh16a1	G	T	7: 45,142,838	T730N	probably damaging	Het
Amfr	A	T	8: 93,999,108	M215K	probably damaging	Het
Apob	A	G	12: 8,016,188	R4386G	possibly damaging	Het
Arhgap45	A	T	10: 80,022,083	M217L	possibly damaging	Het
Baiap2l2	C	T	15: 79,284,076	E49K	possibly damaging	Het
Baz1a	C	T	12: 54,934,820	E350K	possibly damaging	Het
Bbx	A	T	16: 50,266,284	V83D	probably damaging	Het
Btaf1	T	C	19: 36,951,186		probably benign	Het
Cacna2d1	G	A	5: 16,362,273	E942K	probably benign	Het
Cad	T	C	5: 31,062,187		probably benign	Het
Ccdc96	A	G	5: 36,486,366	K572R	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cep164	G	A	9: 45,809,826	R93*	probably null	Het
Cir1	A	G	2: 73,310,455		probably null	Het
Crocc	A	G	4: 141,030,247	S912P	possibly damaging	Het
Cwf19l2	T	C	9: 3,431,057	L463P	probably benign	Het
Cyp3a59	C	T	5: 146,096,653	Q200*	probably null	Het
Cyp4b1	G	T	4: 115,626,876	P303T	probably damaging	Het
Dcbld1	C	A	10: 52,317,077	T306K	probably benign	Het
Dgat2	A	G	7: 99,169,781	V56A	possibly damaging	Het
Dnajc16	A	C	4: 141,789,009	L16R	probably damaging	Het
Dnmt1	A	C	9: 20,918,556		probably benign	Het
Dus3l	A	G	17: 56,769,308	I528V	probably damaging	Het
Egflam	T	C	15: 7,234,237	D744G	probably benign	Het
Epb41	A	C	4: 131,978,795		probably benign	Het
Eri2	C	T	7: 119,785,983	V432I	probably benign	Het
Esyt2	A	G	12: 116,357,198		probably benign	Het
Extl3	A	T	14: 65,077,673	M20K	probably benign	Het
Fam32a	A	G	8: 72,222,219	Y103C	probably damaging	Het
Fat4	T	C	3: 38,981,721	V3174A	probably benign	Het
Fbxo40	T	A	16: 36,969,622	E375D	possibly damaging	Het
Frrs1	A	G	3: 116,883,164	T182A	probably benign	Het
Fry	A	G	5: 150,433,707		probably benign	Het
Fry	T	C	5: 150,478,761		probably benign	Het
Fsip2	A	G	2: 82,977,785	I1483V	probably benign	Het
Glra3	T	A	8: 56,125,076	D389E	probably benign	Het
Gpr3	A	T	4: 133,210,485	I292N	probably damaging	Het
Grina	T	C	15: 76,248,845	M230T	probably damaging	Het
Igkv11-125	G	A	6: 67,913,619	W16*	probably null	Het
Il18r1	T	C	1: 40,474,901	V89A	probably damaging	Het
Ino80	T	C	2: 119,381,983	E1286G	possibly damaging	Het
Iqch	G	A	9: 63,508,232		probably benign	Het
Itpr2	G	T	6: 146,112,400	Q2666K	probably damaging	Het
Kcnh3	A	G	15: 99,232,963	D487G	probably damaging	Het
Kdm1a	A	G	4: 136,561,066	L402P	probably damaging	Het
Klhl10	T	G	11: 100,447,111		probably benign	Het
Krt39	T	C	11: 99,514,791	T428A	possibly damaging	Het
Mapk3	G	A	7: 126,763,386		probably benign	Het
Med13l	T	A	5: 118,759,123	S2089T	possibly damaging	Het
Mex3c	G	A	18: 73,590,053	D406N	possibly damaging	Het
Mki67	G	A	7: 135,698,164	R1714*	probably null	Het
Mmp9	C	A	2: 164,949,820	S211*	probably null	Het
Nat8f2	G	T	6: 85,867,802	Q193K	probably benign	Het
Olfr204	T	C	16: 59,314,601	K269E	probably benign	Het
Omt2a	C	A	9: 78,312,905	A71S	possibly damaging	Het
Pdgfra	G	A	5: 75,170,773	V315I	probably benign	Het
Pdgfrb	A	G	18: 61,083,265	D1065G	probably damaging	Het
Pfas	A	T	11: 69,002,629		probably benign	Het
Pramel5	T	C	4: 144,272,740	E259G	probably benign	Het
Prpf6	A	G	2: 181,622,211	Y222C	possibly damaging	Het
Rbck1	C	A	2: 152,324,330	Q229H	probably damaging	Het
Rdm1	T	A	11: 101,635,835	C278S	probably benign	Het
Sall1	T	C	8: 89,033,191	D95G	probably benign	Het
Scn1a	T	A	2: 66,317,823	D1126V	probably damaging	Het
Scn4a	C	T	11: 106,330,400	G811D	probably benign	Het
Sh2b1	A	G	7: 126,472,272	I247T	probably benign	Het
Shprh	C	A	10: 11,162,812	T437K	possibly damaging	Het
Slc13a4	A	T	6: 35,287,404		probably null	Het
Slc16a1	C	A	3: 104,653,418	Y346*	probably null	Het
Slc25a38	G	T	9: 120,120,706	A163S	probably damaging	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	C	A	5: 120,519,671	D66E	probably damaging	Het
Snapin	A	G	3: 90,489,586	L106P	probably damaging	Het
Tas2r122	G	A	6: 132,711,828	S34F	possibly damaging	Het
Tiam2	A	G	17: 3,421,646	K521R	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Ttc3	T	C	16: 94,387,330		probably benign	Het
Uba1y	T	C	Y: 820,911	F31L	probably benign	Het
Ucp3	A	G	7: 100,481,979		probably benign	Het
Vcan	T	C	13: 89,703,772	E1023G	probably damaging	Het
Vmn2r45	A	G	7: 8,471,821	I736T	probably damaging	Het
Vps36	T	C	8: 22,218,245	F342L	probably benign	Het
Zc3hc1	A	G	6: 30,374,930		probably benign	Het
Zmym4	G	A	4: 126,898,401	Q596*	probably null	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
R1775:Olfr1333	UTSW	4	118829868	missense	probably benign	0.00
R1906:Olfr1333	UTSW	4	118830270	missense	probably damaging	1.00
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'- AAGGATCACCATCCTGGTCCACTG -3'
(R):5'- AGCTTGGCTTGCATGGATACCCAC -3'

Sequencing Primer
(F):5'- TGGCACACCTGTCATAACC -3'
(R):5'- TGCATGGATACCCACATCATTG -3'

Posted On

2013-06-12