Mutagenetix > Incidental Mutations

Incidental Mutation 'R4774:Olfr639'

367762

Institutional Source

Beutler Lab

Gene Symbol

Olfr639

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor 639

Synonyms

MOR12-1, GA_x6K02T2PBJ9-6747143-6746193

MMRRC Submission

042412-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4774 (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 104012588 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 38 (I38T)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106862
AA Change: I38T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: I38T

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: I38T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (97/99)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,639,317	I844V	probably damaging	Het
Acnat1	T	A	4: 49,450,784	Y109F	probably benign	Het
Alox12b	T	C	11: 69,163,207	V205A	probably benign	Het
Apopt1	A	G	12: 111,713,389	T33A	possibly damaging	Het
Arl6ip1	G	A	7: 118,121,985	R77C	probably damaging	Het
Atp8b1	A	G	18: 64,533,659	C1156R	possibly damaging	Het
Atp8b3	A	C	10: 80,536,322	N24K	probably damaging	Het
Bdh1	T	C	16: 31,455,136	V209A	possibly damaging	Het
Blm	A	T	7: 80,463,848	C1234S	probably damaging	Het
Caml	A	G	13: 55,631,927	D271G	possibly damaging	Het
Capn11	T	C	17: 45,633,080	D545G	probably benign	Het
Catspere1	T	C	1: 177,937,738		noncoding transcript	Het
Ccdc114	T	A	7: 45,948,380	S571R	probably damaging	Het
Cep128	T	C	12: 91,234,195	E347G	probably damaging	Het
Cngb3	A	G	4: 19,415,713	T408A	possibly damaging	Het
Cog1	G	A	11: 113,657,427	R18Q	possibly damaging	Het
Cps1	T	C	1: 67,220,512	F1338L	probably damaging	Het
Csmd1	T	C	8: 16,009,369	H2122R	probably benign	Het
Ctu2	T	G	8: 122,481,112	S26A	probably benign	Het
Dbf4	G	A	5: 8,403,062		probably benign	Het
Ddx23	A	T	15: 98,647,235	D663E	probably benign	Het
Dpep2	T	C	8: 105,990,756	T123A	possibly damaging	Het
Eed	A	G	7: 89,964,768	I274T	probably damaging	Het
Eif3b	A	G	5: 140,419,500	D47G	probably benign	Het
Epas1	T	C	17: 86,805,758	V124A	probably damaging	Het
Fam129a	A	T	1: 151,715,694	D529V	probably damaging	Het
Fer1l6	T	C	15: 58,577,949	L668P	probably damaging	Het
Fnip2	C	A	3: 79,465,721	E1017*	probably null	Het
Gm43517	A	T	12: 49,389,907		probably benign	Het
Got1	A	G	19: 43,502,906		probably null	Het
H2-Eb2	T	A	17: 34,334,401	V187E	probably damaging	Het
H2-Q1	T	C	17: 35,321,266		probably benign	Het
Hpgd	T	C	8: 56,298,419	V94A	probably damaging	Het
Htra1	T	A	7: 130,985,026	N446K	probably benign	Het
Igkv3-4	T	A	6: 70,672,285	S89R	probably damaging	Het
Immt	C	T	6: 71,852,736	T142I	probably damaging	Het
Itpkb	C	A	1: 180,418,194	P759T	probably damaging	Het
Jmjd1c	G	A	10: 67,224,792	V688I	possibly damaging	Het
Kbtbd13	G	T	9: 65,390,743	R304S	probably benign	Het
Lama5	A	C	2: 180,185,941	L2176R	probably damaging	Het
Lrp1b	G	C	2: 40,661,532	L418V	probably null	Het
Lrrc4b	C	A	7: 44,462,372		probably null	Het
Lyst	A	G	13: 13,740,597	N3292S	probably damaging	Het
Mep1b	A	T	18: 21,086,184	I132F	probably benign	Het
Mettl2	A	G	11: 105,126,610		probably null	Het
Nmd3	T	C	3: 69,745,236	L385S	probably benign	Het
Nol4	T	C	18: 22,912,626	E243G	probably damaging	Het
Olfr1052	A	T	2: 86,298,698	N294I	possibly damaging	Het
Olfr723	T	A	14: 49,929,269	I92F	probably damaging	Het
Olfr917	A	G	9: 38,665,223	I207T	probably benign	Het
Pcnp	A	G	16: 56,017,159		probably benign	Het
Pla2g6	A	C	15: 79,287,618	C680G	probably damaging	Het
Plekha7	G	T	7: 116,144,943	D661E	probably damaging	Het
Prim1	A	T	10: 128,027,018		probably benign	Het
Psg29	T	A	7: 17,210,535	N323K	probably benign	Het
Ptrh2	G	A	11: 86,690,007	R150H	probably damaging	Het
Rasa1	A	G	13: 85,250,502		probably benign	Het
Rasa3	T	C	8: 13,577,501	D667G	probably benign	Het
Rnase2a	T	C	14: 51,255,744	N55D	probably damaging	Het
Rsf1	GCGGCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,579,916		probably benign	Het
Sbp	T	A	17: 23,945,244	N133K	probably damaging	Het
Scml4	A	G	10: 42,957,747		probably benign	Het
Sema5b	T	A	16: 35,663,182	N1063K	probably damaging	Het
Serpind1	C	T	16: 17,336,408	T33M	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc15a2	A	T	16: 36,781,695	L80*	probably null	Het
Slc9a3r2	T	C	17: 24,644,899	M1V	probably null	Het
Sorcs3	A	G	19: 48,794,163	D1039G	probably benign	Het
Spon1	A	G	7: 114,039,867	E776G	probably damaging	Het
Tdp1	C	T	12: 99,902,364	A259V	possibly damaging	Het
Tex46	C	A	4: 136,610,680	P61Q	probably benign	Het
Tnr	T	A	1: 159,897,066	L1109Q	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpra1	G	A	6: 88,910,679		probably benign	Het
Trim43c	A	T	9: 88,847,652	H383L	possibly damaging	Het
Trip6	A	G	5: 137,310,171	C439R	probably damaging	Het
Tsen2	C	T	6: 115,575,933	S398L	possibly damaging	Het
Tubgcp2	T	C	7: 139,996,161	D863G	probably damaging	Het
Ube2d2a	A	G	18: 35,770,445		probably benign	Het
Umad1	T	A	6: 8,427,181	F145I	probably damaging	Het
Unc5c	A	T	3: 141,828,517	E933V	probably damaging	Het
Vmn1r208	A	G	13: 22,772,476	F284L	probably benign	Het
Vmn2r53	T	A	7: 12,600,765	R323*	probably null	Het
Zan	G	A	5: 137,389,019	T4924I	unknown	Het
Zfp597	G	T	16: 3,865,987	Q302K	probably benign	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
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'- TGACTCCATGCCAGAGAAAG -3'
(R):5'- TGAGCTAACTGCCGTTTGTCTC -3'

Sequencing Primer
(F):5'- GCCATCAAAGTCAATTCTGTAGGC -3'
(R):5'- TGTCTCAACTGCAGGTGAAAAC -3'

Posted On

2015-12-29