Mutagenetix > Incidental Mutations

Incidental Mutation 'R0426:Olfr389'

38665

Institutional Source

Beutler Lab

Gene Symbol

Olfr389

Ensembl Gene

ENSMUSG00000070383

Gene Name

olfactory receptor 389

Synonyms

MOR135-6, GA_x6K02T2P1NL-3932085-3931147

MMRRC Submission

038628-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73774849-73780713 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73776437 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 297 (M297L)

Ref Sequence

ENSEMBL: ENSMUSP00000149734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122224] [ENSMUST00000124927] [ENSMUST00000215418]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118611

Predicted Effect

probably benign
Transcript: ENSMUST00000122224
AA Change: M297L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113364
Gene: ENSMUSG00000070383
AA Change: M297L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.8e-56	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4.2e-6	PFAM
Pfam:7tm_1	41	290	2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124927
AA Change: M297L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115639
Gene: ENSMUSG00000070383
AA Change: M297L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	221	6.6e-7	PFAM
Pfam:7tm_1	41	224	3.5e-29	PFAM
Pfam:7tm_4	139	224	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215418
AA Change: M297L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	C	T	5: 107,510,373	T1603I	probably damaging	Het
Abca8b	G	T	11: 109,955,027		probably benign	Het
Acadl	A	T	1: 66,841,646	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,622,746	D222G	probably benign	Het
Anapc15	A	G	7: 101,898,033	T39A	probably benign	Het
Ano3	A	T	2: 110,661,174	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,970,990		probably null	Het
Atad5	T	A	11: 80,112,832	I1091N	probably benign	Het
Atf1	A	T	15: 100,232,827	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,784,734	M252T	probably benign	Het
Cd55	C	T	1: 130,448,372	R347H	probably benign	Het
Cdc27	A	C	11: 104,513,027		probably null	Het
Cdh9	G	A	15: 16,823,454		probably null	Het
Cdk11b	T	C	4: 155,642,512		probably benign	Het
Cep70	A	G	9: 99,297,684	D567G	probably benign	Het
Cep78	A	T	19: 15,970,970	Y382*	probably null	Het
Col9a2	T	C	4: 121,044,660		probably benign	Het
Cyp2d12	G	A	15: 82,558,963	D409N	probably benign	Het
Ddx39	A	G	8: 83,721,769	T217A	probably benign	Het
Dennd1b	T	A	1: 139,170,196	D733E	probably benign	Het
Dicer1	A	G	12: 104,702,542	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,943,572	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,852,436		probably benign	Het
Dysf	T	C	6: 84,149,757	L1332P	probably damaging	Het
F5	A	G	1: 164,182,840	D380G	probably damaging	Het
Fam160a2	A	C	7: 105,389,473	C186W	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Galr2	C	A	11: 116,281,691	A69D	probably damaging	Het
Grk2	T	C	19: 4,290,600		probably null	Het
Gtf3c1	A	T	7: 125,663,016	Y1119*	probably null	Het
Hgd	A	T	16: 37,588,685		probably benign	Het
Ildr2	G	T	1: 166,308,899	V436L	probably benign	Het
Intu	G	A	3: 40,675,305	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,096	P268T	probably benign	Het
Jarid2	T	C	13: 44,840,882		probably null	Het
Jup	A	T	11: 100,372,401	M716K	probably benign	Het
Kank1	G	A	19: 25,411,473	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,064,244		probably benign	Het
Kdm3a	C	T	6: 71,600,755	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437		probably benign	Het
Kifap3	T	A	1: 163,865,552		probably benign	Het
Macf1	T	A	4: 123,483,660	K1400*	probably null	Het
Majin	A	G	19: 6,212,117		probably benign	Het
Mb21d1	G	A	9: 78,435,738		probably benign	Het
Mctp1	A	G	13: 77,020,821	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,464,127	I286F	possibly damaging	Het
Neil3	T	G	8: 53,609,396		probably benign	Het
Nox3	G	T	17: 3,695,563	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,883,812	K219E	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr213	A	T	6: 116,540,485	N11Y	probably damaging	Het
Olfr524	A	C	7: 140,202,116	F218C	possibly damaging	Het
Olfr548-ps1	T	A	7: 102,542,686	I250N	probably damaging	Het
Olfr954	T	C	9: 39,461,593	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,379,795	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,342,804	E331V	probably damaging	Het
Pcid2	A	C	8: 13,081,262		probably null	Het
Pcsk9	T	C	4: 106,450,077	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801	E203G	probably damaging	Het
Phlpp2	A	G	8: 109,928,463	Y630C	probably benign	Het
Pidd1	C	T	7: 141,439,133	A812T	probably damaging	Het
Plau	G	A	14: 20,842,314	R389H	probably benign	Het
Plekhg6	G	A	6: 125,364,629		probably null	Het
Ppox	T	C	1: 171,277,749	Y321C	probably damaging	Het
Pxdn	A	G	12: 29,987,066	N281S	possibly damaging	Het
Pycrl	A	T	15: 75,918,388	M138K	probably benign	Het
Radil	T	C	5: 142,497,873	Y526C	probably damaging	Het
Ranbp3	C	A	17: 56,707,169	D233E	probably benign	Het
Rhpn1	A	G	15: 75,711,872	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,568,612		probably benign	Het
Sel1l2	A	T	2: 140,240,912	L602*	probably null	Het
Sema5b	G	A	16: 35,646,355	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,456,259		probably benign	Het
Synj1	G	T	16: 90,967,354	A65E	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tecrl	T	C	5: 83,354,763		probably benign	Het
Tenm4	G	T	7: 96,777,851	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,182	L259F	probably damaging	Het
Tmem247	G	A	17: 86,918,503	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,852,821	A218E	probably damaging	Het
Tppp	T	A	13: 74,021,311	F57I	probably damaging	Het
Trim36	A	G	18: 46,172,525	W452R	probably damaging	Het
Vars2	A	T	17: 35,664,584	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Zfp516	G	T	18: 82,955,772	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348	L429I	possibly damaging	Het

Other mutations in Olfr389

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Olfr389	APN	11	73776706	missense	probably benign	0.44
IGL01766:Olfr389	APN	11	73777075	missense	probably benign	0.41
IGL01771:Olfr389	APN	11	73776664	missense	probably damaging	1.00
IGL02535:Olfr389	APN	11	73776616	missense	probably benign	0.00
IGL02639:Olfr389	APN	11	73776545	missense	probably benign	0.21
IGL03060:Olfr389	APN	11	73776463	missense	probably damaging	1.00
IGL03075:Olfr389	APN	11	73776472	missense	probably damaging	1.00
R0081:Olfr389	UTSW	11	73777109	missense	possibly damaging	0.59
R1140:Olfr389	UTSW	11	73776854	missense	probably benign
R1638:Olfr389	UTSW	11	73777148	missense	possibly damaging	0.95
R2001:Olfr389	UTSW	11	73776713	missense	probably benign
R2214:Olfr389	UTSW	11	73776829	nonsense	probably null
R3076:Olfr389	UTSW	11	73776640	missense	possibly damaging	0.93
R3077:Olfr389	UTSW	11	73776640	missense	possibly damaging	0.93
R3078:Olfr389	UTSW	11	73776640	missense	possibly damaging	0.93
R3081:Olfr389	UTSW	11	73777225	missense	probably damaging	1.00
R3430:Olfr389	UTSW	11	73776539	missense	probably damaging	1.00
R3731:Olfr389	UTSW	11	73776739	missense	probably benign	0.08
R4090:Olfr389	UTSW	11	73776841	missense	probably damaging	1.00
R4303:Olfr389	UTSW	11	73776838	missense	possibly damaging	0.78
R4516:Olfr389	UTSW	11	73777040	missense	probably benign	0.06
R4556:Olfr389	UTSW	11	73776481	missense	possibly damaging	0.65
R4557:Olfr389	UTSW	11	73776481	missense	possibly damaging	0.65
R4775:Olfr389	UTSW	11	73776551	missense	probably damaging	1.00
R4858:Olfr389	UTSW	11	73776546	missense	probably benign	0.44
R5015:Olfr389	UTSW	11	73777181	missense	probably benign	0.07
R5087:Olfr389	UTSW	11	73777258	missense	possibly damaging	0.75
R6599:Olfr389	UTSW	11	73776680	missense	probably benign
R6701:Olfr389	UTSW	11	73776470	missense	probably damaging	1.00
R6784:Olfr389	UTSW	11	73776850	missense	probably damaging	1.00
R6916:Olfr389	UTSW	11	73777069	missense	probably benign	0.00
R7066:Olfr389	UTSW	11	73777192	missense	probably damaging	0.99
R7226:Olfr389	UTSW	11	73776677	missense	possibly damaging	0.95
R7457:Olfr389	UTSW	11	73776826	missense	probably benign	0.06
R7486:Olfr389	UTSW	11	73777021	missense	probably damaging	1.00
R7990:Olfr389	UTSW	11	73776671	missense	probably benign	0.00
R8289:Olfr389	UTSW	11	73777013	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTGTAGCCAGGTATCAAAGACAACC -3'
(R):5'- TCCATTCTCAAGGTCCCATCTACACAG -3'

Sequencing Primer
(F):5'- CAGGTATCAAAGACAACCTTTCTTC -3'
(R):5'- CAGGGCATCCACAAGGTC -3'

Posted On

2013-05-23