Mutagenetix > Incidental Mutation

Incidental Mutation 'R6885:Olfr390'

536803

Institutional Source

Beutler Lab

Gene Symbol

Olfr390

Ensembl Gene

ENSMUSG00000069818

Gene Name

olfactory receptor 390

Synonyms

MOR135-26, GA_x6K02T2P1NL-3938806-3939741

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73782964-73790446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73787100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 54 (H54L)

Ref Sequence

ENSEMBL: ENSMUSP00000148992 (fasta)

Gene Model

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

AlphaFold

Q8VEZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092919
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: H54L

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

possibly damaging
Transcript: ENSMUST00000120081
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: H54L

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

possibly damaging
Transcript: ENSMUST00000206815
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215161
AA Change: H54L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.6216

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (58/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,520,109	I1025M	probably benign	Het
Adamtsl5	T	A	10: 80,343,631	T164S	probably benign	Het
Ankar	C	T	1: 72,643,036	A1239T	unknown	Het
Aox4	A	T	1: 58,264,378	S1192C	probably damaging	Het
Atl2	T	C	17: 79,852,553	D68G	probably damaging	Het
Btnl4	T	C	17: 34,472,945	I228V	probably benign	Het
Catsper4	T	C	4: 134,215,149	T231A	probably benign	Het
Ccl12	A	T	11: 82,102,697	T54S	probably damaging	Het
Cntn1	T	C	15: 92,243,099		probably null	Het
Cog5	T	A	12: 31,894,199	D694E	probably damaging	Het
Crat	T	A	2: 30,415,196		probably benign	Het
Crot	T	C	5: 8,973,635	T418A	probably benign	Het
Cubn	G	A	2: 13,318,278	P2826L	probably damaging	Het
Dnah17	A	G	11: 118,090,772	F1698L	possibly damaging	Het
Dock8	T	A	19: 25,147,378	D1019E	possibly damaging	Het
Eps15	A	G	4: 109,309,164	N85D	probably damaging	Het
Exoc1	T	C	5: 76,559,042	S457P	probably damaging	Het
Ext1	G	A	15: 53,101,692	T426I	probably damaging	Het
Fat1	T	C	8: 44,952,452	S747P	possibly damaging	Het
Gas7	A	G	11: 67,683,387	D396G	probably damaging	Het
Gm13023	T	C	4: 143,793,533	C116R	probably damaging	Het
Gm5114	G	T	7: 39,408,156	R680S	probably benign	Het
Gpcpd1	A	T	2: 132,554,074	L94M	possibly damaging	Het
Gse1	C	A	8: 120,229,482		probably benign	Het
Hmgb1	T	C	5: 149,050,661	E26G	probably benign	Het
Incenp	C	T	19: 9,875,132	R714Q	unknown	Het
Krt73	T	C	15: 101,796,398	E351G	probably damaging	Het
Ksr1	A	G	11: 79,047,295		probably null	Het
Lpin2	T	G	17: 71,215,150	S60A	probably damaging	Het
Lrrc71	T	C	3: 87,742,620		probably null	Het
Mafb	A	G	2: 160,366,019	S220P	possibly damaging	Het
Maml3	TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	3: 51,697,579			Het
Mcmbp	T	C	7: 128,725,109		probably null	Het
Olfr1191-ps1	A	G	2: 88,643,597	T277A	probably damaging	Het
Paqr9	T	C	9: 95,560,043	S29P	probably benign	Het
Parm1	A	G	5: 91,594,210	T146A	possibly damaging	Het
Pgm1	T	A	5: 64,103,878	F238L	probably benign	Het
Pigv	A	T	4: 133,665,481	F126Y	probably damaging	Het
Pitx2	T	C	3: 129,218,608	M222T	probably damaging	Het
Plekhg6	T	C	6: 125,378,730	N37S	probably benign	Het
Psme4	A	T	11: 30,834,307	K961*	probably null	Het
Rbpj	T	C	5: 53,653,151	W392R	probably damaging	Het
Reg3a	T	A	6: 78,381,055		probably null	Het
Rfc3	C	T	5: 151,648,284	S85N	probably benign	Het
Rtn3	T	C	19: 7,458,331	T80A	probably benign	Het
Sash1	T	C	10: 8,784,221	T195A	probably damaging	Het
Ska1	A	G	18: 74,206,839	V12A	probably benign	Het
Slc25a1	A	G	16: 17,927,430	V80A	probably benign	Het
Slc26a5	A	T	5: 21,834,344	V217D	probably damaging	Het
Slc46a1	A	G	11: 78,466,979	D286G	probably benign	Het
Spata2l	A	T	8: 123,235,558	L88Q	probably damaging	Het
Sptbn1	T	G	11: 30,138,634	Q876P	probably benign	Het
Tenm2	T	A	11: 36,023,580	I2377F	possibly damaging	Het
Thbs4	A	T	13: 92,762,869	D539E	probably damaging	Het
Tmem154	T	A	3: 84,692,506	C162S	possibly damaging	Het
Tpcn1	T	C	5: 120,544,437	E502G	probably benign	Het
Traf7	G	A	17: 24,512,292	R257C	probably benign	Het
Tsc22d2	T	C	3: 58,416,208	Y174H	probably damaging	Het
Usp8	A	G	2: 126,752,310	E802G	probably damaging	Het
Vmn1r5	T	C	6: 56,986,057	V239A	possibly damaging	Het
Vmn2r99	T	A	17: 19,380,195	S494T	possibly damaging	Het
Zbtb38	A	G	9: 96,686,464	F856L	probably damaging	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
R6020:Olfr390	UTSW	11	73787552	missense	probably benign	0.03
R6151:Olfr390	UTSW	11	73787695	nonsense	probably null
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'- ACATTACAGGAAGATCATGCCTG -3'
(R):5'- GAAGCAGATGGCCACATAGC -3'

Sequencing Primer
(F):5'- TTACAGGAAGATCATGCCTGGAAAC -3'
(R):5'- CATGGCCACAAGTAGGAAGTTCTC -3'

Posted On

2018-10-18