Mutagenetix > Incidental Mutation

Incidental Mutation 'R9258:Olfr390'

702045

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: 0.086) question?

Stock #

R9258 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73782964-73790446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 73787455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 172 (N172K)

Ref Sequence

ENSEMBL: ENSMUSP00000113472 (fasta)

Gene Model

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

AlphaFold

Q8VEZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000092919
AA Change: N172K

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: N172K

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: N172K

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: N172K

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: N172K

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	A	G	8: 105,282,143	V414A	probably damaging	Het
Abcb10	T	A	8: 123,982,608	Q69L	probably benign	Het
Abtb2	A	C	2: 103,716,065	Q930P	probably null	Het
Adam18	G	A	8: 24,668,558	T73I	probably benign	Het
Ankrd54	A	T	15: 79,062,796	M1K	probably null	Het
Anks1	T	C	17: 28,058,426	V1106A	probably damaging	Het
Aox2	A	T	1: 58,312,356	I701F	probably damaging	Het
Arfgef3	C	T	10: 18,589,639	R2152H	probably damaging	Het
Arnt2	C	T	7: 84,361,590	G37E	probably damaging	Het
Arpp21	G	A	9: 112,124,888	T581M	probably benign	Het
Arvcf	A	G	16: 18,398,207	N428S	probably damaging	Het
C2cd3	A	G	7: 100,448,819	E1471G		Het
Cadm1	A	G	9: 47,799,432	K211R	probably benign	Het
Cdh6	A	G	15: 13,064,376	S143P	probably damaging	Het
Cep152	G	A	2: 125,579,436	Q1125*	probably null	Het
Cfap54	A	C	10: 92,935,098	S2095A	unknown	Het
Col12a1	T	C	9: 79,706,363	T67A	probably benign	Het
Col6a3	T	C	1: 90,772,981	N3216S	unknown	Het
Cpeb2	T	A	5: 43,234,112	L217Q		Het
Ctbp2	A	T	7: 132,995,292	N119K	probably damaging	Het
Des	G	T	1: 75,363,645	V399L	probably benign	Het
Dnah2	G	T	11: 69,477,253	H1753Q	probably damaging	Het
Dnajc6	T	C	4: 101,618,616	V562A	probably benign	Het
Dusp13	T	C	14: 21,741,087	D99G	probably benign	Het
Ehd3	A	G	17: 73,820,566	I165V	probably benign	Het
Eme2	C	T	17: 24,893,079	V241M	probably damaging	Het
Eml5	A	G	12: 98,844,117	L860P	possibly damaging	Het
Eogt	T	A	6: 97,112,082	K521M	possibly damaging	Het
Epb41l5	T	C	1: 119,578,971	T489A	probably benign	Het
Fmo5	G	T	3: 97,651,486	V421L	probably benign	Het
Gabpa	C	T	16: 84,856,515	P268S	probably benign	Het
Gas2l3	G	T	10: 89,426,453	H136N	probably benign	Het
Gm5592	C	T	7: 41,288,983	A563V	possibly damaging	Het
Gpn3	A	T	5: 122,381,445	D205V	probably benign	Het
H13	T	C	2: 152,681,079	L104S	probably damaging	Het
H2-Q4	T	A	17: 35,380,129	V125E	probably benign	Het
Ifih1	A	G	2: 62,611,898	F374S	probably damaging	Het
Ildr2	A	G	1: 166,303,589	D338G	probably damaging	Het
Kmt2b	A	T	7: 30,582,468	N1162K	probably null	Het
Lmntd1	T	C	6: 145,413,530	D298G	probably damaging	Het
Lrrc32	T	A	7: 98,499,138	V375E	probably benign	Het
Lrrc37a	A	C	11: 103,502,196	I801R	probably benign	Het
Mgam	A	G	6: 40,680,187	E935G	probably benign	Het
Mms22l	A	T	4: 24,588,238	T917S	probably damaging	Het
Myo3a	A	T	2: 22,577,533	E1204D	possibly damaging	Het
Nav3	T	A	10: 109,714,382	E1829V	probably damaging	Het
Nccrp1	C	T	7: 28,546,207	G150D	probably damaging	Het
Nlrp4b	G	T	7: 10,710,160	W12L	probably damaging	Het
Nmb	T	C	7: 80,904,253	T71A	possibly damaging	Het
Ogfod2	T	A	5: 124,112,442	H35Q	probably benign	Het
Ola1	A	T	2: 73,099,388	S290R	probably damaging	Het
Olfr1297	A	T	2: 111,621,984	I30N	possibly damaging	Het
Olfr1499	A	T	19: 13,814,735	L285*	probably null	Het
Olfr493	T	G	7: 108,346,679	T101P	probably benign	Het
Olfr589	C	A	7: 103,155,202	E182*	probably null	Het
Olfr621-ps1	T	G	7: 103,629,336	Y208S	unknown	Het
Pcsk9	T	C	4: 106,458,850	D132G	possibly damaging	Het
Pkhd1	A	T	1: 20,373,950	V2296E	probably damaging	Het
Prl2c5	A	T	13: 13,190,712	I151L	probably damaging	Het
Prl3d3	A	T	13: 27,160,948	D101V	possibly damaging	Het
Prrt1	A	G	17: 34,631,146	Y178C	probably damaging	Het
Rasal1	A	T	5: 120,655,090	I87F	possibly damaging	Het
Rpgrip1l	A	T	8: 91,260,986	Y814*	probably null	Het
Rpl3l	T	G	17: 24,732,473		probably null	Het
Rrbp1	C	A	2: 144,011,241		probably benign	Het
Ryr3	A	G	2: 112,653,019	S4158P	probably damaging	Het
Scube2	G	T	7: 109,799,308	S951Y	probably damaging	Het
Sec14l1	T	C	11: 117,150,176	V396A	probably benign	Het
Sh3gl1	T	A	17: 56,018,911	K173*	probably null	Het
Shank3	A	T	15: 89,504,318	E371V	probably damaging	Het
Slc25a24	A	G	3: 109,159,435	T302A	probably damaging	Het
Slc25a41	A	T	17: 57,041,580	H4Q	probably benign	Het
Slc45a1	A	T	4: 150,638,614	V271D	possibly damaging	Het
Smad6	A	T	9: 64,020,291	L245Q	probably damaging	Het
Smad7	C	A	18: 75,394,246	Q388K	probably damaging	Het
Snx29	G	T	16: 11,714,935	D348Y	possibly damaging	Het
Son	A	T	16: 91,677,682	H2418L	unknown	Het
Sppl3	G	A	5: 115,095,863	V331M	probably damaging	Het
St13	T	G	15: 81,388,368	T92P	probably benign	Het
St3gal4	A	G	9: 35,052,347	W222R	probably damaging	Het
Stk32a	T	A	18: 43,311,934	N264K	probably benign	Het
Stoml3	T	A	3: 53,497,976	I26N	possibly damaging	Het
Taf7	T	C	18: 37,642,968	E182G	probably damaging	Het
Tas2r138	A	G	6: 40,613,195	V39A	probably damaging	Het
Tbc1d12	A	G	19: 38,901,379	S418G	possibly damaging	Het
Tbr1	T	A	2: 61,812,379	C663S	probably benign	Het
Tmc5	A	T	7: 118,623,278	Y67F	probably benign	Het
Tnfsf4	A	C	1: 161,417,243	I168L	probably benign	Het
Trav5-1	T	G	14: 52,622,890	S51A	probably benign	Het
Trmt10c	A	T	16: 56,034,283	C330S	possibly damaging	Het
Trpm1	T	C	7: 64,234,965	M798T	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Unc13d	CATGCC	CATGCCTCCGATGCC	11: 116,068,181		probably benign	Het
Vmn1r199	A	G	13: 22,382,652	T39A	possibly damaging	Het
Vmn1r74	T	A	7: 11,847,072	C100S	possibly damaging	Het
Vmn2r77	T	A	7: 86,803,094	I494K	possibly damaging	Het
Wdr17	G	A	8: 54,659,619	Q816*	probably null	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
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
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'- TCCCCTATGCAGGATGTCTG -3'
(R):5'- TCGAGTTGAAGGGACCTTGAG -3'

Sequencing Primer
(F):5'- CCTATGCAGGATGTCTGACACAAG -3'
(R):5'- TTGAAGGGACCTTGAGGATGG -3'

Posted On

2022-03-25