Mutagenetix > Incidental Mutations

Incidental Mutation 'R1418:Olfr1115'

159887

Institutional Source

Beutler Lab

Gene Symbol

Olfr1115

Ensembl Gene

ENSMUSG00000070856

Gene Name

olfactory receptor 1115

Synonyms

MOR264-20, MOR273-4P, MOR273-4P, Olfr1530-ps1, GA_x6K02T2Q125-48736906-48737886

MMRRC Submission

039474-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87248013-87253868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87252422 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 162 (G162C)

Ref Sequence

ENSEMBL: ENSMUSP00000150996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081986] [ENSMUST00000213513] [ENSMUST00000214119] [ENSMUST00000217196]

Predicted Effect

probably benign
Transcript: ENSMUST00000081986
AA Change: G162C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080647
Gene: ENSMUSG00000070856
AA Change: G162C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	46	323	5e-54	PFAM
Pfam:7tm_1	56	305	3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183480

Predicted Effect

probably benign
Transcript: ENSMUST00000213513
AA Change: G162C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000214119
AA Change: G162C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000217196
AA Change: G162C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,179,151		probably benign	Het
Adamts12	T	A	15: 11,286,804	W832R	probably damaging	Het
Alb	A	G	5: 90,464,202		probably benign	Het
Arnt	A	G	3: 95,470,399		probably benign	Het
Asap2	A	C	12: 21,239,585	N501H	probably damaging	Het
Asap2	A	G	12: 21,239,589	E499G	probably damaging	Het
Atp5b	C	T	10: 128,083,298		probably benign	Het
Atrnl1	G	A	19: 57,935,705		probably null	Het
AW554918	T	G	18: 25,339,699		probably null	Het
Bod1l	G	A	5: 41,819,471	T1500I	probably damaging	Het
Btbd11	C	A	10: 85,645,578	T948K	probably damaging	Het
Cd101	A	T	3: 101,018,775	Y209*	probably null	Het
Cdk12	T	A	11: 98,241,785	S1013R	unknown	Het
Cntd1	T	A	11: 101,285,740	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,344,870		probably null	Het
Col17a1	T	A	19: 47,671,505	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,238,738	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,405,905		probably null	Het
Dcun1d3	A	G	7: 119,857,935	F185L	probably damaging	Het
Dnah17	T	A	11: 118,074,023	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,647,236		probably benign	Het
Dnajc16	G	T	4: 141,767,741	S520*	probably null	Het
Dsg1b	G	T	18: 20,397,430	E381*	probably null	Het
Dusp1	A	G	17: 26,508,319	V2A	probably benign	Het
Elf1	T	C	14: 79,560,775	V34A	probably damaging	Het
Endou	A	T	15: 97,718,973		probably benign	Het
Epn2	A	G	11: 61,523,086	S419P	probably benign	Het
Fam160b1	G	A	19: 57,371,162	A45T	possibly damaging	Het
Fat4	T	C	3: 38,890,813	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,961,081	Y319C	probably damaging	Het
Gfra1	A	C	19: 58,238,417	S461A	possibly damaging	Het
Gli2	T	G	1: 118,841,936	I629L	probably damaging	Het
Gm13083	T	A	4: 143,616,034	I237K	probably benign	Het
Gm17661	GA	GAA	2: 90,917,709		noncoding transcript	Het
Gm5096	A	G	18: 87,757,334	K327R	probably damaging	Het
Gnas	C	T	2: 174,345,214		probably benign	Het
Gpx3	G	A	11: 54,909,596	V207I	probably damaging	Het
Hormad2	A	G	11: 4,409,005		probably null	Het
Hsd17b4	G	T	18: 50,130,187		probably benign	Het
Kmt2b	A	G	7: 30,576,960		probably benign	Het
Lrch1	T	C	14: 74,804,269		probably benign	Het
Mark3	T	C	12: 111,627,837	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,241,854		probably benign	Het
Mtch2	A	T	2: 90,853,015		probably benign	Het
Mtif2	G	A	11: 29,545,002	V701I	probably benign	Het
Mug1	C	T	6: 121,838,676	S13L	probably benign	Het
Naa25	T	G	5: 121,423,734	L450R	probably damaging	Het
Nr4a2	A	T	2: 57,108,324	N543K	probably damaging	Het
Nrp2	C	T	1: 62,783,332	R695*	probably null	Het
Olfr373	T	C	8: 72,100,387	L209P	probably damaging	Het
Olfr982	T	A	9: 40,074,472	L59H	probably damaging	Het
Otog	G	T	7: 46,274,615	A1133S	probably damaging	Het
Pclo	A	T	5: 14,678,130		probably benign	Het
Pdcd11	A	G	19: 47,130,077	D1794G	probably damaging	Het
Pde4d	C	A	13: 109,950,387	S609*	probably null	Het
Pkn3	T	A	2: 30,083,047	V323E	probably damaging	Het
Plekhd1	A	G	12: 80,692,885	T3A	probably benign	Het
Plekhg4	G	A	8: 105,379,110	A736T	probably benign	Het
Plppr2	C	T	9: 21,947,789	P401S	possibly damaging	Het
Poln	A	G	5: 34,078,975	V604A	probably benign	Het
Prkd2	A	G	7: 16,869,545	D800G	probably benign	Het
Ptprb	A	G	10: 116,319,470	T710A	probably benign	Het
Qrfpr	C	A	3: 36,180,095	G366W	probably damaging	Het
Qser1	C	A	2: 104,777,431	A1471S	probably damaging	Het
Ralbp1	A	T	17: 65,859,148		probably benign	Het
Rars	A	T	11: 35,809,740	Y505N	probably damaging	Het
Sec24b	T	C	3: 130,007,423	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Smcr8	T	C	11: 60,778,032	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,401,421	T301A	probably damaging	Het
Smyd1	G	A	6: 71,262,167	T13I	probably benign	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Szt2	A	T	4: 118,387,779	S1187T	probably benign	Het
Tdo2	A	G	3: 81,961,468		probably null	Het
Tfap2a	T	A	13: 40,717,204	M405L	possibly damaging	Het
Thap12	A	G	7: 98,716,830	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,638,249	Q341K	probably benign	Het
Tnip3	T	C	6: 65,597,429	V88A	probably benign	Het
Trim45	G	T	3: 100,927,298	M432I	probably benign	Het
Ttn	A	G	2: 76,735,411	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,418,575	F989S	probably damaging	Het
Ubox5	A	G	2: 130,600,290	L159P	probably damaging	Het
Uevld	A	T	7: 46,938,010	V314E	possibly damaging	Het
Uhrf1bp1	A	G	17: 27,894,577	K1241R	probably benign	Het
Urb1	T	C	16: 90,769,466	M1478V	probably damaging	Het
Utrn	C	T	10: 12,713,350	V871I	probably benign	Het
Vat1l	T	C	8: 114,282,361		probably benign	Het
Vmn1r205	T	C	13: 22,592,879	K18E	probably benign	Het
Zfp518a	T	A	19: 40,914,359	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,217,246	C475R	probably damaging	Het

Other mutations in Olfr1115

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Olfr1115	APN	2	87252462	missense	probably damaging	1.00
IGL01376:Olfr1115	APN	2	87252873	missense	possibly damaging	0.58
IGL02167:Olfr1115	APN	2	87252198	missense	probably benign	0.18
IGL02224:Olfr1115	APN	2	87252477	missense	probably benign	0.42
IGL02388:Olfr1115	APN	2	87251951	missense	probably benign
IGL02596:Olfr1115	APN	2	87252129	missense	probably damaging	0.98
PIT4131001:Olfr1115	UTSW	2	87252629	missense	probably benign	0.01
R0140:Olfr1115	UTSW	2	87252625	missense	probably damaging	1.00
R0468:Olfr1115	UTSW	2	87252255	missense	probably benign	0.04
R1222:Olfr1115	UTSW	2	87252422	missense	probably benign	0.04
R1742:Olfr1115	UTSW	2	87252778	missense	probably benign	0.01
R1822:Olfr1115	UTSW	2	87252710	missense	possibly damaging	0.91
R2332:Olfr1115	UTSW	2	87252873	missense	possibly damaging	0.58
R3123:Olfr1115	UTSW	2	87252791	missense	possibly damaging	0.67
R3407:Olfr1115	UTSW	2	87252899	missense	probably benign	0.00
R4571:Olfr1115	UTSW	2	87252458	missense	possibly damaging	0.67
R4710:Olfr1115	UTSW	2	87252040	missense	possibly damaging	0.64
R4889:Olfr1115	UTSW	2	87252647	missense	probably damaging	0.97
R5031:Olfr1115	UTSW	2	87252082	missense	probably benign
R5288:Olfr1115	UTSW	2	87252483	missense	probably benign	0.06
R5385:Olfr1115	UTSW	2	87252483	missense	probably benign	0.06
R5386:Olfr1115	UTSW	2	87252483	missense	probably benign	0.06
R5669:Olfr1115	UTSW	2	87252441	missense	probably benign	0.00
R6187:Olfr1115	UTSW	2	87252698	missense	probably damaging	1.00
R6226:Olfr1115	UTSW	2	87252392	missense	probably benign	0.27
R6598:Olfr1115	UTSW	2	87252756	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTTCTAGTTCCAGAGACATCACGCAG -3'
(R):5'- TCATTCACAAAGATGTTCCCACATGCC -3'

Sequencing Primer
(F):5'- TGGATCTCTTCACACTGAAAGG -3'
(R):5'- CCACATGCCAATCTGAGTAGTG -3'

Posted On

2014-03-14