Mutagenetix > Incidental Mutations

Incidental Mutation 'R4981:Olfr639'

384830

Institutional Source

Beutler Lab

Gene Symbol

Olfr639

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor 639

Synonyms

MOR12-1, GA_x6K02T2PBJ9-6747143-6746193

MMRRC Submission

042576-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4981 (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 104012105 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 199 (I199T)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106862
AA Change: I199T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: I199T

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 damaging
Transcript: ENSMUST00000215653
AA Change: I199T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (105/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,048,987		probably null	Het
Aatf	T	C	11: 84,511,497	D121G	probably benign	Het
Amer2	T	A	14: 60,379,727	L331H	probably damaging	Het
Ang4	T	G	14: 51,764,372	K40Q	probably benign	Het
Aspm	A	C	1: 139,470,760		probably null	Het
Cacna1c	A	T	6: 118,751,471	D337E	probably benign	Het
Ccdc124	T	C	8: 70,868,785	E134G	probably benign	Het
Ccdc7a	G	T	8: 128,984,983	A312E	probably benign	Het
Ccdc84	A	T	9: 44,417,948	F14Y	probably damaging	Het
Cd209g	A	G	8: 4,136,845	D130G	probably damaging	Het
Cd320	T	C	17: 33,847,575	S96P	probably benign	Het
Clu	C	G	14: 65,973,366	Q134E	probably damaging	Het
Cnksr3	T	A	10: 7,160,777	H28L	probably benign	Het
Cntnap1	T	C	11: 101,176,333		probably null	Het
Col22a1	C	T	15: 71,861,066	C546Y	unknown	Het
Col6a3	C	T	1: 90,778,843	V2183I	unknown	Het
Cop1	A	G	1: 159,325,068		probably benign	Het
Cpne8	T	C	15: 90,679,235	I24V	probably benign	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Dennd5b	G	A	6: 149,009,772	L978F	possibly damaging	Het
Depdc1a	G	T	3: 159,523,913	M627I	probably benign	Het
Dnah3	A	T	7: 119,956,201	N2721K	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg1b	A	G	18: 20,408,868	T811A	possibly damaging	Het
Emilin1	C	G	5: 30,919,351	Q847E	probably benign	Het
Epha3	A	T	16: 63,652,412	V370D	probably benign	Het
Epha5	T	A	5: 84,150,483	T406S	probably damaging	Het
Ephb1	A	T	9: 102,040,960	I450N	probably benign	Het
Ephb2	A	G	4: 136,696,010	M319T	probably benign	Het
Eps15l1	A	G	8: 72,378,989		probably null	Het
Fbxo9	G	A	9: 78,085,886		probably benign	Het
Fgd5	T	C	6: 91,989,300	I838T	probably damaging	Het
Fnbp4	T	C	2: 90,765,830	F582L	probably damaging	Het
Frs3	T	C	17: 47,689,262		probably null	Het
Fscb	C	T	12: 64,473,619	V358I	possibly damaging	Het
Fus	G	T	7: 127,967,555		probably benign	Het
Fyb	CCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCT	15: 6,646,611		probably benign	Het
Glra3	A	T	8: 55,991,235	I77F	possibly damaging	Het
Gm4454	C	T	7: 38,570,436		noncoding transcript	Het
Gng3	G	A	19: 8,838,261	A37V	possibly damaging	Het
Grin3b	T	A	10: 79,976,357		probably benign	Het
Herpud1	A	G	8: 94,391,794	Y41C	probably damaging	Het
Igkv4-92	G	C	6: 68,755,044	S115R	possibly damaging	Het
Ikbip	T	A	10: 91,095,986	I164N	probably benign	Het
Kank1	A	G	19: 25,411,395	T783A	probably benign	Het
Kcnq3	A	T	15: 66,031,405	V152E	possibly damaging	Het
Kif23	C	T	9: 61,931,871	R314H	probably damaging	Het
Klc4	T	C	17: 46,644,361	H49R	probably benign	Het
Klhl20	A	T	1: 161,103,005	I309N	possibly damaging	Het
Lgals4	A	G	7: 28,841,276	Y268C	probably damaging	Het
Lingo4	A	G	3: 94,399,454	Q13R	probably benign	Het
Lmtk2	C	A	5: 144,176,447	F1328L	probably damaging	Het
Mapk14	A	G	17: 28,741,791	R179G	probably damaging	Het
Mbd3l1	A	T	9: 18,484,905	T109S	probably benign	Het
Megf6	T	C	4: 154,267,450	F1169L	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,211	V240D	probably damaging	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Myh1	T	C	11: 67,224,474		probably benign	Het
Nav3	T	C	10: 109,880,692	I172V	probably benign	Het
Nemp1	T	A	10: 127,693,530	L178Q	probably damaging	Het
Numa1	T	C	7: 101,992,674	S110P	probably damaging	Het
Olfr1076	T	C	2: 86,508,827	Y123H	probably damaging	Het
Olfr1222	T	C	2: 89,125,501	T77A	probably benign	Het
Olfr1248	A	G	2: 89,617,425	Y256H	probably damaging	Het
Olfr1500	A	T	19: 13,828,094	F101I	probably damaging	Het
Olfr995	A	G	2: 85,438,469	S230P	probably damaging	Het
Pard3b	T	G	1: 62,344,060	M771R	probably damaging	Het
Phkg2	A	G	7: 127,582,379	I245V	probably damaging	Het
Pik3cg	A	T	12: 32,204,104	M628K	possibly damaging	Het
Poln	A	G	5: 34,107,085		probably null	Het
Ppip5k1	A	T	2: 121,312,390	S1172T	probably damaging	Het
Prdm5	A	T	6: 65,870,462	H363L	probably damaging	Het
Prkdc	A	G	16: 15,678,309	Y788C	probably damaging	Het
Prrc2c	T	A	1: 162,692,547	R2076S	probably damaging	Het
Sh2d2a	A	G	3: 87,849,421	Y191C	probably damaging	Het
Slc20a1	T	C	2: 129,199,999	I94T	probably damaging	Het
Sptbn2	T	C	19: 4,751,658	V2366A	probably benign	Het
Stab2	T	A	10: 86,960,223	M387L	probably benign	Het
Syne2	T	G	12: 75,941,219	M1718R	probably damaging	Het
Synm	G	T	7: 67,734,487	F700L	probably benign	Het
Tmco4	T	C	4: 138,990,701	F51L	possibly damaging	Het
Tmem104	C	A	11: 115,205,136	P168T	probably damaging	Het
Tril	G	T	6: 53,818,920	T439K	probably benign	Het
Trim2	A	G	3: 84,177,735	L559P	probably damaging	Het
Trim3	A	G	7: 105,619,128	V149A	probably damaging	Het
Triml2	A	G	8: 43,187,680	N191S	probably benign	Het
Usp4	A	G	9: 108,381,418	D16G	probably benign	Het
Vmn2r58	G	A	7: 41,837,461	T670I	probably damaging	Het
Vmn2r97	G	T	17: 18,940,174	G524*	probably null	Het
Xpo5	C	A	17: 46,220,817	F426L	probably damaging	Het
Zfp800	A	G	6: 28,247,191	L84S	probably damaging	Het
Zranb2	T	G	3: 157,546,741		probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	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
R0086:Olfr639	UTSW	7	104012054	missense	probably benign	0.23
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
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'- ACCACTGGTGATGCATGCTTG -3'
(R):5'- AACTCTGCCTCGGATCATATCC -3'

Sequencing Primer
(F):5'- GTGATGCATGCTTGGCAAC -3'
(R):5'- CCATGGGTCTGGGTATTACACTAAAG -3'

Posted On

2016-05-10