Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Olfr1259'

45065

Institutional Source

Beutler Lab

Gene Symbol

Olfr1259

Ensembl Gene

ENSMUSG00000068806

Gene Name

olfactory receptor 1259

Synonyms

GA_x6K02T2Q125-51376062-51375133, MOR232-9

MMRRC Submission

038742-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89940532-89948664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89943389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 242 (I242T)

Ref Sequence

ENSEMBL: ENSMUSP00000149652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]

AlphaFold

Q8VEZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000090695
AA Change: I242T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: I242T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	8.9e-45	PFAM
Pfam:7tm_1	39	285	5.5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214846
AA Change: I242T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,840	Y947N	probably damaging	Het
Acss3	C	A	10: 107,053,471	G163C	probably damaging	Het
Adcy10	A	G	1: 165,565,315	T1367A	probably benign	Het
Adcy2	A	T	13: 68,982,361	S136T	probably benign	Het
Ahdc1	G	A	4: 133,063,037	V530I	probably benign	Het
Aldh16a1	C	T	7: 45,146,229		probably null	Het
Ankrd36	T	C	11: 5,607,429		probably null	Het
Aqr	A	C	2: 114,132,976	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,682,929		probably benign	Het
Atp8b2	C	T	3: 89,959,061		probably benign	Het
Bbx	T	C	16: 50,274,533		probably benign	Het
Bmper	T	A	9: 23,373,885	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 148,952,284		probably benign	Het
Catsperd	T	C	17: 56,663,427		probably null	Het
Ccdc92b	T	A	11: 74,629,945		probably null	Het
Cd2bp2	G	T	7: 127,193,824	T342K	probably damaging	Het
Clrn3	T	A	7: 135,528,425	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,406,477		probably null	Het
Cntnap3	T	C	13: 64,762,000	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,309	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,804,949	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753	S389P	probably benign	Het
Ddx18	T	C	1: 121,555,375	K561E	probably benign	Het
Dkk3	A	G	7: 112,158,245	F51L	probably damaging	Het
Dnaic1	C	T	4: 41,596,274	R20*	probably null	Het
Dr1	G	A	5: 108,269,605	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954		probably null	Het
Eif3l	A	G	15: 79,076,867	Y16C	probably damaging	Het
Epb41	A	G	4: 131,975,613	I464T	probably damaging	Het
Erc2	A	G	14: 28,271,651	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,463,509	D315G	probably damaging	Het
Fads6	A	G	11: 115,296,677	I64T	probably benign	Het
Fshr	T	C	17: 89,045,125	N107S	probably benign	Het
Gbp11	A	T	5: 105,343,750	N60K	probably benign	Het
Gm2a	C	T	11: 55,103,665	Q54*	probably null	Het
Hydin	A	G	8: 110,587,775	D4297G	probably benign	Het
Il6st	G	A	13: 112,475,114		probably null	Het
Inpp4b	T	A	8: 81,997,337	H499Q	probably benign	Het
Kif5c	A	G	2: 49,758,912	K956R	possibly damaging	Het
Krt74	G	A	15: 101,760,679		noncoding transcript	Het
Map3k9	A	T	12: 81,725,781	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479	D2871G	probably benign	Het
Mylk4	T	C	13: 32,716,666	T294A	probably benign	Het
Nbeal2	C	T	9: 110,642,158	V252I	probably benign	Het
Nectin3	A	G	16: 46,458,820	I265T	possibly damaging	Het
Olfr1065	A	T	2: 86,445,876	Y35*	probably null	Het
Olfr1109	G	T	2: 87,093,129	H89Q	probably benign	Het
Olfr1447	A	T	19: 12,901,800		probably null	Het
Olfr181	A	G	16: 58,926,385	F62S	probably damaging	Het
Olfr554	G	A	7: 102,640,950	E235K	possibly damaging	Het
Olfr910	T	A	9: 38,539,380	C162S	probably damaging	Het
Opn1sw	A	T	6: 29,380,204	L71Q	probably damaging	Het
Pced1a	G	A	2: 130,419,633	P367S	probably benign	Het
Pkhd1	A	T	1: 20,347,223	M2568K	probably null	Het
Pla2r1	A	G	2: 60,425,350		probably null	Het
Plpp1	T	C	13: 112,834,985	I62T	probably benign	Het
Polr3g	G	A	13: 81,694,773	T41I	probably damaging	Het
Ptch2	T	C	4: 117,096,433		probably benign	Het
Sema4g	A	T	19: 44,997,665	H315L	probably benign	Het
Setd1b	G	T	5: 123,157,660	S1097I	unknown	Het
Sfxn4	A	G	19: 60,850,945		probably benign	Het
Sh3tc1	T	C	5: 35,699,784	E1237G	probably damaging	Het
Slc25a38	A	T	9: 120,123,643	N287I	probably benign	Het
Slc25a48	A	G	13: 56,448,998	T31A	probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,531,155		probably benign	Het
Slco4c1	A	C	1: 96,867,859	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,364,378	T2208A	probably benign	Het
Srebf1	G	A	11: 60,201,676	T843I	probably benign	Het
Srl	A	G	16: 4,487,565	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,594,019	C76*	probably null	Het
Tdrd3	C	A	14: 87,486,220	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trpm3	A	G	19: 22,987,812	E1547G	probably damaging	Het
Ubn1	A	G	16: 5,062,620		probably null	Het
Usp10	T	A	8: 119,947,801	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,400,323		probably benign	Het
Vit	T	A	17: 78,624,793	V443E	possibly damaging	Het
Whamm	G	A	7: 81,586,224	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,400,494	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,224,690	T356S	probably damaging	Het

Other mutations in Olfr1259

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Olfr1259	APN	2	89943260	missense	probably damaging	0.96
IGL01446:Olfr1259	APN	2	89943938	missense	probably damaging	0.99
IGL01830:Olfr1259	APN	2	89943431	missense	probably benign	0.03
IGL02160:Olfr1259	APN	2	89943805	missense	probably damaging	1.00
PIT4280001:Olfr1259	UTSW	2	89943743	missense	probably damaging	1.00
R0366:Olfr1259	UTSW	2	89943818	missense	possibly damaging	0.89
R0587:Olfr1259	UTSW	2	89943392	missense	probably damaging	1.00
R1383:Olfr1259	UTSW	2	89943551	missense	probably benign	0.12
R1400:Olfr1259	UTSW	2	89943542	missense	possibly damaging	0.82
R1851:Olfr1259	UTSW	2	89943814	nonsense	probably null
R1953:Olfr1259	UTSW	2	89943923	missense	probably damaging	1.00
R2330:Olfr1259	UTSW	2	89943953	missense	probably benign
R3897:Olfr1259	UTSW	2	89943809	missense	probably benign	0.24
R3955:Olfr1259	UTSW	2	89943828	missense	possibly damaging	0.90
R4687:Olfr1259	UTSW	2	89943869	missense	probably damaging	0.98
R4976:Olfr1259	UTSW	2	89943803	missense	possibly damaging	0.77
R5119:Olfr1259	UTSW	2	89943803	missense	possibly damaging	0.77
R5291:Olfr1259	UTSW	2	89943436	nonsense	probably null
R5415:Olfr1259	UTSW	2	89943387	missense	probably benign	0.25
R5546:Olfr1259	UTSW	2	89943585	missense	probably damaging	1.00
R5588:Olfr1259	UTSW	2	89943792	missense	probably benign	0.00
R6633:Olfr1259	UTSW	2	89943366	missense	probably benign
R6858:Olfr1259	UTSW	2	89943743	missense	probably damaging	0.99
R7294:Olfr1259	UTSW	2	89943724	nonsense	probably null
R8261:Olfr1259	UTSW	2	89943372	missense	probably benign	0.00
R8319:Olfr1259	UTSW	2	89943680	missense	possibly damaging	0.87
R8771:Olfr1259	UTSW	2	89943221	missense	probably benign	0.01
R8817:Olfr1259	UTSW	2	89943446	missense	probably damaging	1.00
R9208:Olfr1259	UTSW	2	89943381	missense	possibly damaging	0.88
R9390:Olfr1259	UTSW	2	89943225	missense	probably benign	0.10
R9402:Olfr1259	UTSW	2	89943940	nonsense	probably null
R9731:Olfr1259	UTSW	2	89943972	missense	possibly damaging	0.67
Z1088:Olfr1259	UTSW	2	89943770	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTGGGTCCTGAACTCTAAAGTGAAGG -3'
(R):5'- GTTGGAACTTGTTTGCATGGACACAC -3'

Sequencing Primer
(F):5'- AAGATTCCGTGTGTGTCCC -3'
(R):5'- TGTTTGCATGGACACACACATC -3'

Posted On

2013-06-11