Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Olfr1240'

30674

Institutional Source

Beutler Lab

Gene Symbol

Olfr1240

Ensembl Gene

ENSMUSG00000111174

Gene Name

olfactory receptor 1240

Synonyms

MOR231-8, GA_x6K02T2Q125-50883183-50882239

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

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

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89436296-89443000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89439396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 294 (N294K)

Ref Sequence

ENSEMBL: ENSMUSP00000150256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000215362] [ENSMUST00000216123]

AlphaFold

Q8VG73

Predicted Effect

probably benign
Transcript: ENSMUST00000099779
AA Change: N294K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097367
Gene: ENSMUSG00000075087
AA Change: N294K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4e-45	PFAM
Pfam:7tm_1	39	285	1.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187363
AA Change: N294K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139968
Gene: ENSMUSG00000099909
AA Change: N294K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	2e-28	PFAM
Pfam:7tm_4	137	278	1.2e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215362
AA Change: N294K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216123
AA Change: N294K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,839,996	H78L	probably benign	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cuzd1	G	A	7: 131,311,908		probably benign	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Marf1	T	C	16: 14,151,320		probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,899,823	V181F	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Selplg	G	A	5: 113,820,008	T79I	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbc1d31	T	A	15: 57,955,350	L783H	probably benign	Het
Tbck	C	A	3: 132,751,232		probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	Het

Other mutations in Olfr1240

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Olfr1240	APN	2	89439800	missense	probably benign	0.00
IGL01767:Olfr1240	APN	2	89439800	missense	probably benign	0.00
R0417:Olfr1240	UTSW	2	89440175	missense	possibly damaging	0.88
R0501:Olfr1240	UTSW	2	89439716	missense	probably benign	0.09
R0586:Olfr1240	UTSW	2	89439354	missense	possibly damaging	0.55
R0624:Olfr1240	UTSW	2	89440138	missense	possibly damaging	0.94
R1168:Olfr1240	UTSW	2	89439869	nonsense	probably null
R1728:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R1729:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R1730:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R1739:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R1762:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R1783:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R1785:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R2038:Olfr1240	UTSW	2	89439345	missense	probably benign	0.00
R2049:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R2069:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R2140:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R2142:Olfr1240	UTSW	2	89439583	missense	probably benign	0.00
R2215:Olfr1240	UTSW	2	89440037	missense	probably benign	0.00
R3714:Olfr1240	UTSW	2	89439383	missense	probably damaging	1.00
R4304:Olfr1240	UTSW	2	89440198	missense	probably damaging	0.96
R4437:Olfr1240	UTSW	2	89439354	missense	possibly damaging	0.55
R4825:Olfr1240	UTSW	2	89439865	missense	probably benign	0.01
R4857:Olfr1240	UTSW	2	89439623	missense	probably damaging	1.00
R4865:Olfr1240	UTSW	2	89439659	missense	possibly damaging	0.88
R5588:Olfr1240	UTSW	2	89439416	missense	probably damaging	1.00
R5730:Olfr1240	UTSW	2	89439436	missense	probably damaging	1.00
R7206:Olfr1240	UTSW	2	89440457	start gained	probably benign
R7365:Olfr1240	UTSW	2	89440198	missense	probably benign	0.01
R7574:Olfr1240	UTSW	2	89439401	missense	possibly damaging	0.94
R8007:Olfr1240	UTSW	2	89440340
R8268:Olfr1240	UTSW	2	89439436	missense	probably damaging	1.00
R8559:Olfr1240	UTSW	2	89440184	missense	probably benign	0.03
R8812:Olfr1240	UTSW	2	89439865	missense	probably benign	0.01
R9269:Olfr1240	UTSW	2	89439932	missense	probably damaging	0.99
R9534:Olfr1240	UTSW	2	89439655	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGGAATCCCCAAACTGAGCAGGTA -3'
(R):5'- GCTCCCACATCATAGTGGTTGTCC -3'

Sequencing Primer
(F):5'- GGTATAAAAATCTGCCATGCAGAC -3'
(R):5'- CATCATAGTGGTTGTCCTCTTTTTTG -3'

Posted On

2013-04-24