Mutagenetix > Incidental Mutations

Incidental Mutation 'R6332:Olfr639'

513172

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

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R6332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104006231-104017303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104011773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 310 (S310P)

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: S310P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: S310P

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: S310P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	A	7: 42,446,243	G194C	possibly damaging	Het
Adamtsl1	A	G	4: 86,217,011	K258E	probably damaging	Het
Afdn	A	T	17: 13,810,445	D206V	possibly damaging	Het
Agt	G	T	8: 124,557,833	Q389K	possibly damaging	Het
Ankrd44	A	T	1: 54,762,273	D298E	probably damaging	Het
Anks1	A	G	17: 28,052,735	S897G	probably benign	Het
Apol9b	A	G	15: 77,735,546		probably null	Het
Baz1a	T	C	12: 54,918,554	E705G	probably benign	Het
BC048679	C	T	7: 81,495,218	V126M	probably benign	Het
Cep295	A	G	9: 15,334,914	F749L	possibly damaging	Het
Cntrl	T	A	2: 35,128,024	I482K	possibly damaging	Het
Col6a3	A	G	1: 90,822,233	F293S	probably damaging	Het
Dnah12	T	G	14: 26,717,974	M527R	probably damaging	Het
Dnhd1	G	A	7: 105,694,066	R1539H	probably benign	Het
Ece1	A	G	4: 137,958,008	Y603C	probably damaging	Het
Eea1	G	A	10: 96,041,473	A1350T	possibly damaging	Het
Exoc3l4	A	T	12: 111,427,968	K507N	possibly damaging	Het
Fam126b	T	A	1: 58,529,875	Y515F	probably damaging	Het
Fam35a	A	G	14: 34,268,172	V259A	probably benign	Het
Flt3l	A	T	7: 45,133,667		probably null	Het
Fn1	T	C	1: 71,628,071	Q834R	probably benign	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Ifih1	T	C	2: 62,639,483	N157D	possibly damaging	Het
Itga2	A	C	13: 114,843,473	M1064R	probably benign	Het
Itgae	A	G	11: 73,111,402		probably null	Het
Krtap10-4	T	C	10: 77,827,049		probably benign	Het
Lamp3	A	G	16: 19,699,681	C269R	probably damaging	Het
Lrp5	T	C	19: 3,659,355	D125G	probably damaging	Het
Matn2	A	C	15: 34,423,755	E586D	probably benign	Het
Mef2b	T	A	8: 70,164,139		probably null	Het
Mrps22	A	G	9: 98,601,471		probably null	Het
Mtmr2	T	C	9: 13,800,029	F445L	probably damaging	Het
Nxph4	A	G	10: 127,526,368	V218A	probably damaging	Het
Olfr1308	C	T	2: 111,960,746	G109D	probably damaging	Het
Olfr382	A	G	11: 73,517,175	V8A	probably benign	Het
Pdpk1	A	T	17: 24,106,922	V100D	probably damaging	Het
Phldb2	A	C	16: 45,774,246	S899A	probably benign	Het
Pnpla3	G	A	15: 84,172,782		probably null	Het
Rasal2	A	G	1: 157,299,187	Y94H	probably damaging	Het
Rlf	A	T	4: 121,148,822	I987N	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rprd2	A	G	3: 95,780,441	Y300H	probably damaging	Het
Setbp1	G	A	18: 78,783,369	S1343L	probably benign	Het
Sfswap	A	G	5: 129,571,041	K938E	possibly damaging	Het
Slc3a1	A	C	17: 85,028,432	M1L	probably damaging	Het
Slco5a1	C	T	1: 12,921,185	V427I	probably benign	Het
Ssbp2	A	T	13: 91,690,908	M300L	probably benign	Het
Ssc5d	A	G	7: 4,937,522	D878G	probably damaging	Het
Stk19	A	G	17: 34,824,598	L212P	probably damaging	Het
Stk39	T	C	2: 68,410,043	M115V	possibly damaging	Het
Syt17	A	C	7: 118,434,243	S181A	probably benign	Het
Taar7b	A	T	10: 23,999,951	N5Y	probably benign	Het
Tmc4	A	G	7: 3,677,422		probably null	Het
Tmem248	T	A	5: 130,229,469	M1K	probably null	Het
Tmem82	T	A	4: 141,616,410	Q183L	probably damaging	Het
Tpd52l1	T	C	10: 31,338,207	E142G	probably damaging	Het
Ttll2	A	T	17: 7,351,768	H253Q	probably damaging	Het
Ttn	T	C	2: 76,857,464		probably benign	Het
Ubd	A	G	17: 37,195,501	K93E	probably benign	Het
Ugt2b35	T	A	5: 87,001,556	F222Y	probably damaging	Het
Vmn2r10	G	T	5: 109,003,462	N95K	probably damaging	Het
Vwa8	T	C	14: 79,197,464	V1775A	probably benign	Het
Zdbf2	A	G	1: 63,307,822	K1787E	possibly damaging	Het
Zfp26	A	T	9: 20,437,286	F661I	probably damaging	Het
Zfp735	A	T	11: 73,711,678	K483*	probably null	Het
Zfp946	A	G	17: 22,454,538	E91G	probably damaging	Het
Zic5	C	A	14: 122,459,749	D485Y	unknown	Het
Zmynd8	A	T	2: 165,838,852	D236E	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
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
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
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'- GAAATGTTGGGCATATATGTACTTGT -3'
(R):5'- CAGTGCTTATATATTATGTGCCTATGA -3'

Sequencing Primer
(F):5'- GCTTGTAGTAATGCTTTGAATC -3'
(R):5'- ATTATGTGCCTATGATTGGTGTGTC -3'

Posted On

2018-04-27