Mutagenetix > Incidental Mutation

Incidental Mutation 'R7120:Olfr390'

551948

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: 0.123) question?

Stock #

R7120 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73782964-73790446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73787114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 59 (M59L)

Ref Sequence

ENSEMBL: ENSMUSP00000113472 (fasta)

Gene Model

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

AlphaFold

Q8VEZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000092919
AA Change: M59L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: M59L

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 damaging
Transcript: ENSMUST00000120081
AA Change: M59L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: M59L

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 damaging
Transcript: ENSMUST00000206815
AA Change: M59L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215161
AA Change: M59L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	T	3: 36,481,867	Q94L	unknown	Het
4933411K16Rik	C	T	19: 42,052,673	A81V	probably benign	Het
Actr3	A	C	1: 125,403,432	Y273*	probably null	Het
Aoc1	T	A	6: 48,906,597	I469N	probably damaging	Het
Arhgef28	A	T	13: 97,944,539	L1270Q	probably damaging	Het
Atp2c1	G	A	9: 105,420,186	Q780*	probably null	Het
Bbs10	T	C	10: 111,299,449	V141A	possibly damaging	Het
Bivm	A	T	1: 44,126,446	T19S	probably benign	Het
Cacna1h	T	G	17: 25,391,507	H675P	probably benign	Het
Cadps	T	A	14: 12,439,919	L1204F	probably damaging	Het
Cald1	T	C	6: 34,686,076		probably null	Het
Calr	A	G	8: 84,842,828	M357T	probably damaging	Het
Ccni	A	T	5: 93,183,331	Y260*	probably null	Het
Csrnp3	C	A	2: 66,023,010	T594K	probably damaging	Het
Dek	A	T	13: 47,100,183	M152K	unknown	Het
Depdc1b	T	C	13: 108,362,247	W155R	probably benign	Het
Ehd1	A	G	19: 6,297,561	K315R	probably benign	Het
Epn3	C	A	11: 94,492,428	R323S	probably benign	Het
Fam57b	T	C	7: 126,829,333	L221P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxo10	T	A	4: 45,040,533	K891*	probably null	Het
Fras1	G	T	5: 96,752,960	G3013*	probably null	Het
Gbp2b	A	G	3: 142,606,746	T297A	probably benign	Het
Gbp7	T	C	3: 142,543,973	S402P	probably damaging	Het
Gclc	T	C	9: 77,786,750	Y329H	probably damaging	Het
Gfpt1	A	G	6: 87,087,393	H655R	probably benign	Het
Gm4787	C	A	12: 81,378,486	M299I	probably benign	Het
Grb7	C	A	11: 98,454,991	R532S	probably benign	Het
Hmcn1	A	T	1: 150,700,541	I2066N	probably damaging	Het
Hnrnpll	T	C	17: 80,034,057	T518A	probably benign	Het
Hps3	G	A	3: 20,011,541	R712W	probably damaging	Het
Hspd1	A	G	1: 55,079,229	V406A	probably benign	Het
Igkv2-112	T	C	6: 68,220,526	F61L	probably benign	Het
Iqcf5	G	A	9: 106,515,796	R84H	probably damaging	Het
Itgad	T	A	7: 128,173,974	M1K	probably null	Het
Kmt2d	A	G	15: 98,861,065	S1292P	unknown	Het
Macc1	C	A	12: 119,445,745	Q83K	possibly damaging	Het
Map3k4	G	T	17: 12,271,467	A359E	probably damaging	Het
Mfap3	T	A	11: 57,528,217	C68S	probably damaging	Het
Mipep	C	T	14: 60,875,247	R660C	possibly damaging	Het
Morc2b	A	T	17: 33,135,813	L995Q	probably damaging	Het
Mrc1	A	G	2: 14,308,697	N913S	probably damaging	Het
N4bp1	C	A	8: 86,860,867	C481F	probably benign	Het
Nae1	A	G	8: 104,526,278		probably null	Het
Nup214	T	A	2: 32,051,042	V29E	probably benign	Het
Olfr251	T	C	9: 38,378,649	L250P	probably damaging	Het
Orai1	A	G	5: 123,029,472	E236G	possibly damaging	Het
P2rx7	A	G	5: 122,681,294	Y593C	probably benign	Het
Pcbp2	A	G	15: 102,474,678	D77G	possibly damaging	Het
Pcdha8	G	A	18: 36,993,787	V441M	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plaa	A	G	4: 94,582,682	S406P	possibly damaging	Het
Plekhh1	C	A	12: 79,070,939	P903Q	probably benign	Het
Plekhh3	T	C	11: 101,168,238	E92G	probably damaging	Het
Ptpn9	T	C	9: 57,059,882	F463S	probably damaging	Het
Ptprn2	A	C	12: 116,872,056	E337A	probably benign	Het
Rubcn	C	T	16: 32,836,469	R527Q	probably damaging	Het
Samd3	C	T	10: 26,230,966	T73M	possibly damaging	Het
Sfxn4	T	A	19: 60,852,039	K173*	probably null	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Son	T	G	16: 91,670,526	N2258K	unknown	Het
Sspo	A	T	6: 48,465,571	H2000L	probably benign	Het
Syne1	C	T	10: 5,293,971	S2731N	probably benign	Het
Syt6	T	C	3: 103,587,357	Y213H	probably damaging	Het
Tkt	A	G	14: 30,559,822	N99S	probably benign	Het
Tmem258	G	A	19: 10,204,238		probably benign	Het
Tnks1bp1	T	C	2: 85,072,097	S1702P	probably damaging	Het
Tpte	A	G	8: 22,327,673	D225G	probably damaging	Het
Trak1	T	A	9: 121,460,498	F625L	probably benign	Het
Ttc33	G	T	15: 5,212,007	C77F	probably benign	Het
Ugt1a2	A	G	1: 88,200,800	H55R	probably damaging	Het
Vmn1r169	G	T	7: 23,578,019	V279L	probably benign	Het
Vmn2r25	T	C	6: 123,828,435	K488E	possibly damaging	Het
Vmn2r8	A	T	5: 108,808,638	D39E	possibly 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
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
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'- TACATTACAGGAAGATCATGCCTGG -3'
(R):5'- GAAGCAGATGGCCACATAGC -3'

Sequencing Primer
(F):5'- GGAAGATCATGCCTGGAAACAACC -3'
(R):5'- CACATAGCGGTCATAGGCCATG -3'

Posted On

2019-05-15