Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Olfr639'

551245

Institutional Source

Beutler Lab

Gene Symbol

Olfr639

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor 639

Synonyms

MOR12-1, GA_x6K02T2PBJ9-6747143-6746193

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R7107 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104006231-104017303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104012282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 140 (L140Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

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

AlphaFold

Q8VGY8

Predicted Effect

probably benign
Transcript: ENSMUST00000106862
AA Change: L140Q

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: L140Q

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: L140Q

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	A	13: 59,742,183	R608*	probably null	Het
4922502D21Rik	A	G	6: 129,322,952	C188R	probably damaging	Het
Abca8b	A	G	11: 109,976,473	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,578,142	E588G	probably benign	Het
Ahcy	G	A	2: 155,068,973	A25V	probably damaging	Het
Ank2	A	C	3: 127,003,982	L710R	probably damaging	Het
Ap1b1	A	G	11: 5,039,558	T824A	probably benign	Het
Arap2	T	A	5: 62,606,208	H1531L	probably damaging	Het
B3gnt7	T	C	1: 86,305,773	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,226,570	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,670,170	H301R	probably benign	Het
Casc3	T	A	11: 98,827,587	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,630,061	L63Q	probably damaging	Het
Cep250	A	G	2: 155,995,394	T2319A	probably benign	Het
Chd1	T	C	17: 15,761,366	S1356P	probably damaging	Het
Chd8	A	G	14: 52,212,672	S1542P	probably benign	Het
Cntnap4	A	G	8: 112,815,488	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,702,489	R90C	possibly damaging	Het
Defa21	G	A	8: 21,025,708	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,894,399	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dtx4	A	T	19: 12,473,260	C529*	probably null	Het
Entpd3	A	G	9: 120,560,599	Y317C	probably damaging	Het
Erp29	T	A	5: 121,445,318	I182F	possibly damaging	Het
Fam161a	A	G	11: 23,023,452	R445G	possibly damaging	Het
Fam214b	A	T	4: 43,036,434	V99E	probably benign	Het
Fam76a	T	A	4: 132,903,921	M238L	possibly damaging	Het
Fn1	T	C	1: 71,627,249	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,530,182		probably null	Het
Hspg2	T	C	4: 137,510,652	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,434,970	S59P	probably damaging	Het
Itpkc	C	A	7: 27,228,277	A71S	probably benign	Het
Kcnk10	G	A	12: 98,518,743	R45*	probably null	Het
Krcc1	A	G	6: 71,284,214	S77G	probably benign	Het
Lelp1	G	A	3: 92,135,514	T76I	unknown	Het
Lifr	A	T	15: 7,178,940	I600F	possibly damaging	Het
Lrrk1	T	A	7: 66,287,443	D987V	possibly damaging	Het
Mfsd7a	T	A	5: 108,448,715		probably null	Het
Muc16	C	T	9: 18,637,298	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Myo9a	A	G	9: 59,870,815	I1285V	probably benign	Het
Ndel1	T	C	11: 68,822,648	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,715,217	V449A	probably damaging	Het
Olfr1386	T	A	11: 49,470,434	Y94*	probably null	Het
Olfr1495	A	G	19: 13,769,161	E273G	probably benign	Het
Olfr195	A	C	16: 59,148,916	D22A	probably benign	Het
Olfr458	T	C	6: 42,460,554	N155S	possibly damaging	Het
Osbpl1a	G	A	18: 12,841,253	R459*	probably null	Het
Pabpc1l	A	C	2: 164,042,479	T379P	probably damaging	Het
Pde2a	A	T	7: 101,421,968	Q15L	probably benign	Het
Pdk1	A	G	2: 71,895,741	N331S	probably benign	Het
Pfdn1	A	T	18: 36,451,466		probably null	Het
Pnliprp1	T	A	19: 58,729,150	L9H	probably damaging	Het
Prl7a2	A	T	13: 27,659,093	D242E	possibly damaging	Het
Prmt9	T	A	8: 77,568,251	I408N	possibly damaging	Het
Psme4	G	A	11: 30,848,105	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,128,650	D393V	probably damaging	Het
Rab5b	A	G	10: 128,683,193		probably null	Het
Rap1gap2	G	A	11: 74,393,119	R618C	probably damaging	Het
Rin1	A	G	19: 5,050,773		probably benign	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Sdk1	A	G	5: 142,081,716	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,838,777	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,656,777	I189N	probably damaging	Het
Spsb2	A	T	6: 124,810,281	Q226L	probably benign	Het
Stab2	T	C	10: 86,905,592	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,070,150	R500H	probably benign	Het
Syne1	A	G	10: 5,132,078	Y849H	probably damaging	Het
Tbck	T	A	3: 132,722,331	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,624,204	F1984L	probably benign	Het
Tnxb	T	A	17: 34,671,340	V219E	unknown	Het
Tpst1	T	A	5: 130,114,503	V294D	probably damaging	Het
Treml1	A	G	17: 48,360,219	Q44R	probably damaging	Het
Trrap	G	A	5: 144,797,135	A933T	probably benign	Het
Vars2	A	G	17: 35,658,250	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,113,630	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,928,394	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,090,729	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,638,917	T179A	probably damaging	Het
Zmym2	A	G	14: 56,902,712	T3A	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
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
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
R8985:Olfr639	UTSW	7	104012160	missense	probably damaging	1.00
R9261:Olfr639	UTSW	7	104012129	missense	probably damaging	1.00
Z1177:Olfr639	UTSW	7	104012150	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGAGTCCAGCCCAAAAGTGG -3'
(R):5'- ACACTGCCCACTGTTATGG -3'

Sequencing Primer
(F):5'- CCAGGATGCTATTCAACCTAGTATC -3'
(R):5'- GGCATTCTTTGGTTTAATGCCTACAG -3'

Posted On

2019-05-15