Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Olfr1240'

40368

Institutional Source

Beutler Lab

Gene Symbol

Olfr1240

Ensembl Gene

ENSMUSG00000111174

Gene Name

olfactory receptor 1240

Synonyms

MOR231-8, GA_x6K02T2Q125-50883183-50882239

MMRRC Submission

038619-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89436296-89443000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89440175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 35 (V35L)

Ref Sequence

ENSEMBL: ENSMUSP00000150256 (fasta)

Gene Model

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

AlphaFold

Q8VG73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099779
AA Change: V35L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097367
Gene: ENSMUSG00000075087
AA Change: V35L

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

possibly damaging
Transcript: ENSMUST00000187363
AA Change: V35L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139968
Gene: ENSMUSG00000099909
AA Change: V35L

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

possibly damaging
Transcript: ENSMUST00000215362
AA Change: V35L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216123
AA Change: V35L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957		probably benign	Het
Acot2	T	C	12: 83,990,613	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865	V53I	probably benign	Het
Ankrd50	T	C	3: 38,456,361	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,603,511	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569	D377E	probably damaging	Het
Eed	A	T	7: 89,971,552	Y87*	probably null	Het
Entpd3	T	C	9: 120,557,421	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726	C291R	probably benign	Het
Flvcr1	A	T	1: 191,011,219	M466K	probably benign	Het
Fras1	G	T	5: 96,691,372	M1583I	probably benign	Het
Fzd9	G	T	5: 135,249,619	R471S	probably damaging	Het
Galr1	A	T	18: 82,405,540	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Ikzf1	A	C	11: 11,769,352	N353T	probably benign	Het
Il7	T	A	3: 7,576,027	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602	D232E	probably benign	Het
Nampt	T	C	12: 32,833,101	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979	S69P	probably damaging	Het
Olfr1105	A	T	2: 87,033,445	Y259N	probably damaging	Het
Olfr1283	A	G	2: 111,369,105	S158G	possibly damaging	Het
Olfr1390	T	A	11: 49,340,673	I47N	possibly damaging	Het
Olfr143	T	C	9: 38,253,864	F149S	probably benign	Het
Olfr870	G	A	9: 20,171,214	A119V	probably damaging	Het
Olfr894	A	G	9: 38,219,455	I211V	probably benign	Het
Osbpl3	C	T	6: 50,348,018	V167I	probably benign	Het
Pclo	T	A	5: 14,713,022	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304		probably null	Het
Ror1	A	T	4: 100,412,000	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544		probably null	Het
Slc40a1	G	A	1: 45,911,374	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926	T978A	probably benign	Het
Stom	C	A	2: 35,321,632	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903	D548G	probably benign	Het
Ust	A	G	10: 8,245,936	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496	S180P	possibly damaging	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
R0375:Olfr1240	UTSW	2	89439396	missense	probably benign	0.00
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'- GCAGGGGTTTACAGATAGCCACATAG -3'
(R):5'- CAATTTCGTGGCACATGTTATCCTGAG -3'

Sequencing Primer
(F):5'- TAAGTGCTCTACAAAGAGCTGG -3'
(R):5'- GGCACATGTTATCCTGAGTTCTTATC -3'

Posted On

2013-05-23