Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Olfr706'

591861

Institutional Source

Beutler Lab

Gene Symbol

Olfr706

Ensembl Gene

ENSMUSG00000109354

Gene Name

olfactory receptor 706

Synonyms

GA_x6K02T2PBJ9-9271198-9270248, MOR283-11

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106882589-106888162 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106886673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 48 (V48D)

Ref Sequence

ENSEMBL: ENSMUSP00000150075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088687] [ENSMUST00000208759] [ENSMUST00000209025] [ENSMUST00000210644] [ENSMUST00000213251] [ENSMUST00000213918] [ENSMUST00000214112]

AlphaFold

Q9EPF8

Predicted Effect

probably benign
Transcript: ENSMUST00000088687

SMART Domains

Protein: ENSMUSP00000086062
Gene: ENSMUSG00000069390

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.2e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	303	9.1e-9	PFAM
Pfam:7tm_1	41	290	1.4e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208759

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209025
AA Change: V48D

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000210644

Predicted Effect

probably benign
Transcript: ENSMUST00000213251

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213918
AA Change: V48D

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000214112

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,006,016	L23P	possibly damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Neo1	A	G	9: 58,925,795	S556P	probably damaging	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Paxip1	T	A	5: 27,765,738	M538L	unknown	Het
Pgghg	G	T	7: 140,945,469	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Rbbp6	T	C	7: 122,994,686	Y514H	possibly damaging	Het
Rbbp6	T	A	7: 122,990,032		probably null	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Shq1	A	C	6: 100,573,756	L407W	probably damaging	Het
Sipa1	A	T	19: 5,651,671	S979T	probably benign	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	probably damaging	Het

Other mutations in Olfr706

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02311:Olfr706	APN	7	106885894	missense	probably benign	0.00
IGL03093:Olfr706	APN	7	106886203	missense	probably benign	0.02
IGL03354:Olfr706	APN	7	106886100	missense	probably benign	0.07
R0334:Olfr706	UTSW	7	106886415	missense	probably benign	0.00
R1577:Olfr706	UTSW	7	106886010	missense	probably benign	0.03
R4083:Olfr706	UTSW	7	106886644	missense	probably damaging	0.97
R4399:Olfr706	UTSW	7	106886453	missense	probably damaging	1.00
R4421:Olfr706	UTSW	7	106886453	missense	probably damaging	1.00
R5202:Olfr706	UTSW	7	106886596	missense	possibly damaging	0.90
R6031:Olfr706	UTSW	7	106885927	missense	possibly damaging	0.93
R6031:Olfr706	UTSW	7	106885927	missense	possibly damaging	0.93
R6375:Olfr706	UTSW	7	106886014	missense	probably benign
R6475:Olfr706	UTSW	7	106886397	missense	probably benign	0.00
R7742:Olfr706	UTSW	7	106886622	missense	probably damaging	1.00
R7956:Olfr706	UTSW	7	106885971	missense	possibly damaging	0.88
R8678:Olfr706	UTSW	7	106886073	missense	probably damaging	1.00
Z1088:Olfr706	UTSW	7	106886296	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATGGCCACATACCTGTCATAG -3'
(R):5'- TTTCTAGGCAATCAAAGATACCACC -3'

Sequencing Primer
(F):5'- TGCACTGCCTAGCATCAATG -3'
(R):5'- CACCCAGAATGGAGCTCTG -3'

Posted On

2019-11-12