Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Olfr390'

478876

Institutional Source

Beutler Lab

Gene Symbol

Olfr390

Ensembl Gene

ENSMUSG00000069818

Gene Name

olfactory receptor 390

Synonyms

MOR135-26, GA_x6K02T2P1NL-3938806-3939741

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73782964-73790446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73787552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 205 (L205F)

Ref Sequence

ENSEMBL: ENSMUSP00000148992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092919] [ENSMUST00000120081] [ENSMUST00000206815] [ENSMUST00000215161]

AlphaFold

Q8VEZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000092919
AA Change: L205F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: L205F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.1e-61	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.2e-9	PFAM
Pfam:7tm_1	41	290	6.8e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120081
AA Change: L205F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: L205F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	305	7.2e-9	PFAM
Pfam:7tm_1	41	290	1.4e-36	PFAM
Pfam:7tm_4	139	283	5.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206815

Predicted Effect

probably benign
Transcript: ENSMUST00000215161
AA Change: L205F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,145,613	V557F	possibly damaging	Het
Abi3	A	T	11: 95,842,025	L41*	probably null	Het
Actn1	C	A	12: 80,174,455		probably null	Het
Adamts15	G	T	9: 30,902,062	R936S	probably benign	Het
Angel2	T	C	1: 190,932,871	S22P	probably benign	Het
Ank2	T	G	3: 126,946,821		probably benign	Het
Astn1	A	G	1: 158,509,993	D423G	probably damaging	Het
Casp9	A	G	4: 141,796,538	D78G	probably damaging	Het
Cbr4	A	G	8: 61,487,853	D2G	probably benign	Het
Ccdc8	T	A	7: 16,996,581	L665H	probably damaging	Het
Cdh23	T	A	10: 60,331,326	N1847I	probably damaging	Het
Cnst	T	C	1: 179,609,875	W335R	probably benign	Het
Ddr2	T	A	1: 170,005,102	I130F	probably benign	Het
Dnah2	C	T	11: 69,500,839	A677T	probably benign	Het
Dzip3	C	A	16: 48,951,842	W488L	probably damaging	Het
Ephb3	T	G	16: 21,222,013	I637S	probably damaging	Het
Etv3	A	G	3: 87,529,364	D142G	probably benign	Het
Fabp5	C	T	3: 10,016,089	T126I	probably benign	Het
Fam13b	A	C	18: 34,494,774	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,992,127	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,756,668	F199S	possibly damaging	Het
Gm340	G	A	19: 41,583,547	G247D	possibly damaging	Het
Gm5493	A	G	17: 22,748,061	K57E	probably benign	Het
Gm7334	A	G	17: 50,699,237	M184V	probably benign	Het
Gm9894	T	C	13: 67,763,835		noncoding transcript	Het
Gpd2	T	A	2: 57,364,513	N674K	probably benign	Het
H2-M10.6	A	G	17: 36,813,067	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,884,327	E1796K	probably benign	Het
Hexim2	A	G	11: 103,138,292	T57A	probably benign	Het
Hrg	A	T	16: 22,954,518	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 94,033,977	T262A	probably damaging	Het
Irak3	G	T	10: 120,143,137	P470T	probably damaging	Het
Itgbl1	A	T	14: 123,846,565	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,864	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,388,386	M1157K	probably damaging	Het
Mdc1	G	A	17: 35,848,633	G635D	probably benign	Het
Mdc1	A	G	17: 35,857,572	K1690R	probably benign	Het
Mpp3	A	T	11: 102,018,539		probably benign	Het
Ncor2	G	T	5: 125,020,011	H2285N	probably benign	Het
Neb	T	A	2: 52,257,827	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,581,567	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,384,725	I476M	probably benign	Het
Nrsn1	T	G	13: 25,253,372	Q191P	probably damaging	Het
Olfr116	A	T	17: 37,623,967	S223T	possibly damaging	Het
Olfr610	T	A	7: 103,506,799	H49L	probably benign	Het
Patl1	T	G	19: 11,937,354	L623R	probably damaging	Het
Pdc	T	C	1: 150,333,366	I200T	probably benign	Het
Pdzk1	A	G	3: 96,868,426	D370G	probably benign	Het
Pglyrp3	A	T	3: 92,031,534	I339F	probably damaging	Het
Plxnb1	T	C	9: 109,116,611	V2070A	probably damaging	Het
Poln	G	A	5: 34,109,431	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,383,508	V218L	probably damaging	Het
Pygl	T	C	12: 70,216,654	D55G	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
RP24-351P7.8	T	C	7: 11,610,301	F62S	probably damaging	Het
Rsrp1	T	C	4: 134,924,381	F152S	probably damaging	Het
Sim2	T	C	16: 94,097,251	S115P	probably damaging	Het
Slc17a1	T	A	13: 23,875,610	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,325,658	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,616,142	N69K	probably benign	Het
Slc51a	T	G	16: 32,479,766	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,224,112	H448R	probably benign	Het
Smc3	G	A	19: 53,625,163		probably null	Het
Sox6	A	T	7: 115,486,628	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,693,715		probably null	Het
Tsr1	C	T	11: 74,900,293		probably null	Het
Ttc12	T	C	9: 49,443,122	K565E	probably damaging	Het
Ube4b	A	T	4: 149,368,311	V386E	probably benign	Het
Ush2a	T	A	1: 188,728,096		probably null	Het
Usp5	C	A	6: 124,817,613		probably benign	Het
Vmn1r216	T	C	13: 23,099,935	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,418,149	L606*	probably null	Het
Wee2	T	A	6: 40,449,620		probably null	Het
Zfhx3	T	C	8: 108,792,527	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,632,768	P120L	probably benign	Het

Other mutations in Olfr390

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Olfr390	APN	11	73787580	missense	probably damaging	1.00
IGL01621:Olfr390	APN	11	73787277	missense	probably damaging	0.99
IGL01630:Olfr390	APN	11	73787861	missense	probably benign	0.14
IGL01866:Olfr390	APN	11	73787828	missense	probably benign	0.28
IGL02577:Olfr390	APN	11	73787046	missense	probably damaging	1.00
IGL02617:Olfr390	APN	11	73787734	missense	probably benign	0.01
IGL03017:Olfr390	APN	11	73787518	missense	probably benign	0.01
IGL03215:Olfr390	APN	11	73787385	missense	probably damaging	1.00
IGL03342:Olfr390	APN	11	73787483	missense	probably benign	0.03
IGL03098:Olfr390	UTSW	11	73787703	missense	probably benign	0.29
R0115:Olfr390	UTSW	11	73787315	missense	possibly damaging	0.45
R0217:Olfr390	UTSW	11	73787388	missense	possibly damaging	0.90
R1971:Olfr390	UTSW	11	73787790	missense	probably damaging	1.00
R2033:Olfr390	UTSW	11	73787438	missense	probably benign	0.15
R2058:Olfr390	UTSW	11	73787274	missense	probably benign	0.00
R3051:Olfr390	UTSW	11	73787234	missense	probably benign	0.01
R3622:Olfr390	UTSW	11	73787741	missense	probably benign	0.00
R3913:Olfr390	UTSW	11	73787696	missense	probably damaging	1.00
R4545:Olfr390	UTSW	11	73787166	missense	probably damaging	1.00
R4656:Olfr390	UTSW	11	73787511	missense	probably damaging	1.00
R5120:Olfr390	UTSW	11	73786964	missense	probably benign	0.01
R5635:Olfr390	UTSW	11	73787634	missense	probably benign	0.26
R6151:Olfr390	UTSW	11	73787695	nonsense	probably null
R6885:Olfr390	UTSW	11	73787100	missense	possibly damaging	0.94
R6984:Olfr390	UTSW	11	73787777	missense	possibly damaging	0.91
R7057:Olfr390	UTSW	11	73787148	missense	possibly damaging	0.88
R7120:Olfr390	UTSW	11	73787114	missense	probably damaging	0.98
R7704:Olfr390	UTSW	11	73787790	missense	probably damaging	1.00
R8323:Olfr390	UTSW	11	73786940	start codon destroyed	probably damaging	1.00
R9100:Olfr390	UTSW	11	73787861	missense	probably benign	0.14
R9258:Olfr390	UTSW	11	73787455	missense	probably benign	0.28
R9384:Olfr390	UTSW	11	73786970	missense	probably benign
R9421:Olfr390	UTSW	11	73787101	missense	probably benign	0.23
R9450:Olfr390	UTSW	11	73787275	missense	possibly damaging	0.56
R9698:Olfr390	UTSW	11	73787616	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTATGCCAGTATCATGAGCCC -3'
(R):5'- GCAGATGGACCTAAGTAGATGC -3'

Sequencing Primer
(F):5'- CCCAAGCTCTGTGTGAGTC -3'
(R):5'- CCTAAGTAGATGCCAATAATTGTCCC -3'

Posted On

2017-06-26