Mutagenetix > Incidental Mutations

Incidental Mutation 'R0086:Olfr639'

19897

Institutional Source

Beutler Lab

Gene Symbol

Olfr639

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor 639

Synonyms

MOR12-1, GA_x6K02T2PBJ9-6747143-6746193

MMRRC Submission

038373-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R0086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104006231-104017303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104012054 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 216 (I216T)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]

Predicted Effect

probably benign
Transcript: ENSMUST00000106862
AA Change: I216T

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: I216T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.4e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	173	3.6e-9	PFAM
Pfam:7tm_1	43	294	4.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215653
AA Change: I216T

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.6%
20x: 86.6%

Validation Efficiency

96% (91/95)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 82,062,601	V233D	probably benign	Het
Abcg8	T	C	17: 84,692,771	V252A	probably damaging	Het
Adam39	C	T	8: 40,826,360	T596I	possibly damaging	Het
Agap2	C	A	10: 127,087,882		probably null	Het
Ap4b1	T	G	3: 103,814,860	V50G	probably damaging	Het
Atp13a1	T	A	8: 69,797,774	I381N	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Birc6	T	C	17: 74,593,166	V1113A	possibly damaging	Het
C1galt1	T	A	6: 7,867,051		probably benign	Het
Capza2	A	G	6: 17,660,774	K158E	probably damaging	Het
Cenpe	C	T	3: 135,264,424		probably benign	Het
Cercam	T	C	2: 29,871,064	L42P	probably damaging	Het
Cfap54	T	C	10: 93,028,594	E807G	possibly damaging	Het
Cog6	A	G	3: 52,993,570	V157A	probably damaging	Het
Cts6	A	T	13: 61,196,457		probably benign	Het
Cyp2c39	A	T	19: 39,510,913	I15F	unknown	Het
Dock7	A	T	4: 98,945,144	V1970D	probably damaging	Het
Exph5	A	G	9: 53,337,930	D73G	possibly damaging	Het
Gjc2	A	T	11: 59,176,846	M270K	probably benign	Het
Gns	G	A	10: 121,391,473	D463N	probably damaging	Het
Hoxd8	G	T	2: 74,705,932	G129W	probably damaging	Het
Ina	A	G	19: 47,023,591	T483A	possibly damaging	Het
Lmod3	T	A	6: 97,247,345	Q505L	probably damaging	Het
Map3k13	A	G	16: 21,914,225	N526D	probably damaging	Het
Map3k2	A	T	18: 32,218,468	I435F	probably damaging	Het
Mfsd6l	A	G	11: 68,556,565	T81A	probably benign	Het
Micall1	T	C	15: 79,125,489		probably benign	Het
Mkrn2	G	T	6: 115,613,335	M217I	possibly damaging	Het
Myh11	C	A	16: 14,224,019	Q720H	probably damaging	Het
Ncapg	A	G	5: 45,676,744		probably null	Het
Nlrp9a	G	A	7: 26,558,547	C530Y	probably damaging	Het
Numb	T	C	12: 83,795,930	T442A	probably damaging	Het
Oip5	C	T	2: 119,617,929		probably benign	Het
Olfr1224-ps1	C	T	2: 89,156,476	R233H	probably benign	Het
Olfr342	A	T	2: 36,527,450	I13F	possibly damaging	Het
Olfr936	T	C	9: 39,046,895	T175A	probably benign	Het
Pcnx	T	C	12: 81,992,058		probably benign	Het
Pkhd1l1	T	A	15: 44,556,008	N2956K	possibly damaging	Het
Plcl1	T	A	1: 55,715,583	W1030R	probably damaging	Het
Polr2i	G	A	7: 30,233,086	V73M	probably damaging	Het
Prr14l	T	A	5: 32,831,559		probably benign	Het
Pxdn	G	T	12: 30,002,419	R865L	possibly damaging	Het
Scnn1a	T	C	6: 125,342,587		probably benign	Het
Shkbp1	G	T	7: 27,352,026	H203N	probably benign	Het
Skiv2l2	G	T	13: 112,927,328	F10L	probably benign	Het
Slc22a14	C	T	9: 119,222,738		probably benign	Het
Snap29	C	A	16: 17,428,236	T240K	probably damaging	Het
Sp2	C	A	11: 96,957,427	G457C	probably damaging	Het
Ssr2	C	T	3: 88,576,880		probably benign	Het
Synpo2	A	T	3: 123,117,104	C297*	probably null	Het
Tpm3	T	A	3: 90,090,092		probably benign	Het
Trmt6	CTG	C	2: 132,809,017		probably benign	Het
Trp63	T	C	16: 25,871,087	Y431H	probably damaging	Het
Tuba3b	T	A	6: 145,621,160	C376S	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Ulk1	G	A	5: 110,787,707		probably benign	Het
Usp24	T	C	4: 106,392,360	S1425P	probably damaging	Het
Xdh	T	C	17: 73,884,438	I1335V	probably benign	Het
Zmynd15	T	C	11: 70,464,232	Y352H	probably damaging	Het

Other mutations in Olfr639

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Olfr639	APN	7	104012114	missense	probably damaging	1.00
IGL01547:Olfr639	APN	7	104012660	missense	probably benign	0.43
IGL02173:Olfr639	APN	7	104011830	missense	probably damaging	1.00
IGL02707:Olfr639	APN	7	104012402	missense	probably damaging	1.00
IGL03124:Olfr639	APN	7	104011794	missense	probably benign
R0004:Olfr639	UTSW	7	104012431	missense	probably benign	0.02
R0370:Olfr639	UTSW	7	104012059	missense	probably damaging	0.99
R0599:Olfr639	UTSW	7	104012188	nonsense	probably null
R1351:Olfr639	UTSW	7	104012316	missense	possibly damaging	0.81
R1604:Olfr639	UTSW	7	104011955	missense	probably damaging	1.00
R2314:Olfr639	UTSW	7	104012229	missense	probably benign	0.09
R2656:Olfr639	UTSW	7	104011865	missense	probably damaging	0.96
R4594:Olfr639	UTSW	7	104012417	missense	probably benign	0.01
R4774:Olfr639	UTSW	7	104012588	missense	probably benign	0.00
R4945:Olfr639	UTSW	7	104012378	missense	possibly damaging	0.85
R4968:Olfr639	UTSW	7	104012570	missense	probably damaging	1.00
R4981:Olfr639	UTSW	7	104012105	missense	probably damaging	0.97
R5072:Olfr639	UTSW	7	104012118	missense	probably damaging	0.97
R5982:Olfr639	UTSW	7	104011910	missense	probably damaging	1.00
R6303:Olfr639	UTSW	7	104012031	missense	probably damaging	1.00
R6304:Olfr639	UTSW	7	104012031	missense	probably damaging	1.00
R6332:Olfr639	UTSW	7	104011773	missense	probably benign	0.00
R7107:Olfr639	UTSW	7	104012282	missense	probably benign	0.16
R7152:Olfr639	UTSW	7	104012019	missense	probably benign
R7456:Olfr639	UTSW	7	104011838	missense	possibly damaging	0.83
R7849:Olfr639	UTSW	7	104012303	missense	possibly damaging	0.56
R8023:Olfr639	UTSW	7	104011799	missense	probably damaging	0.97
R8082:Olfr639	UTSW	7	104012690	missense	probably benign	0.04
R8215:Olfr639	UTSW	7	104012123	missense	possibly damaging	0.85
R8428:Olfr639	UTSW	7	104012425	nonsense	probably null
Z1177:Olfr639	UTSW	7	104012150	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCACAAACAGATAGATGCTCGAC -3'
(R):5'- AATCCTCTGCGCTATACAGCCATTC -3'

Sequencing Primer
(F):5'- CTCGACATAAGTGTGTGGACC -3'
(R):5'- CTAAAGAGTGTTGCACTCATGGC -3'

Posted On

2013-04-11