Mutagenetix > Incidental Mutations

Incidental Mutation 'R1721:Olfr331'

191482

Institutional Source

Beutler Lab

Gene Symbol

Olfr331

Ensembl Gene

ENSMUSG00000058807

Gene Name

olfactory receptor 331

Synonyms

GA_x6K02T2NKPP-912840-913784, MOR275-4

MMRRC Submission

039753-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58501598-58502572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58501939 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 206 (V206M)

Ref Sequence

ENSEMBL: ENSMUSP00000132693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081743] [ENSMUST00000170501]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081743
AA Change: V212M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: V212M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	1e-42	PFAM
Pfam:7tm_1	45	299	1.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170501
AA Change: V206M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: V206M

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:7tm_1	39	292	4.9e-28	PFAM
Pfam:7tm_4	141	285	3.6e-42	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (87/88)

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, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,743,598	S743T	probably damaging	Het
Acin1	A	T	14: 54,664,538	V559E	probably benign	Het
Adamts20	A	G	15: 94,338,459	F844L	probably benign	Het
Adcy5	C	A	16: 35,298,424	D1048E	probably damaging	Het
Agrn	A	T	4: 156,175,173	C768*	probably null	Het
Aldh18a1	G	T	19: 40,564,838	Q487K	probably damaging	Het
Aldh3b1	G	A	19: 3,921,271		probably benign	Het
Asb18	T	G	1: 89,968,580	D246A	probably benign	Het
Atp2b1	T	C	10: 98,996,888	V417A	probably damaging	Het
Bcl2l15	A	G	3: 103,838,598		probably null	Het
Cage1	T	A	13: 38,023,333	K285*	probably null	Het
Cldn17	A	G	16: 88,506,556	L95P	probably damaging	Het
Cldn20	A	T	17: 3,532,882	D110V	probably damaging	Het
Cnot10	T	C	9: 114,614,999	T443A	probably benign	Het
Col14a1	T	A	15: 55,447,462		probably benign	Het
Col23a1	T	C	11: 51,527,889	Y135H	unknown	Het
Cse1l	T	C	2: 166,926,411	S210P	probably damaging	Het
Cspg4	T	G	9: 56,888,743	V1254G	probably damaging	Het
Ctgf	A	C	10: 24,596,797	T202P	probably damaging	Het
Dip2c	A	G	13: 9,659,368	T1415A	probably damaging	Het
Epc2	A	G	2: 49,532,105	Y337C	probably damaging	Het
Epha2	A	G	4: 141,322,652	S799G	probably damaging	Het
Fndc10	A	G	4: 155,694,898	Y133C	probably damaging	Het
Gli3	G	T	13: 15,726,297	S1423I	probably benign	Het
Gm6034	A	T	17: 36,043,153		probably benign	Het
Gmip	A	G	8: 69,811,232	S109G	probably damaging	Het
Grik2	C	A	10: 49,523,746	W296L	possibly damaging	Het
Gucy2d	T	A	7: 98,454,061	L504H	probably damaging	Het
Il6	T	A	5: 30,013,492	Y46N	possibly damaging	Het
Ints8	C	A	4: 11,241,684	C253F	probably damaging	Het
Itga9	A	G	9: 118,698,306		probably benign	Het
Kcna7	T	C	7: 45,406,921	V187A	possibly damaging	Het
Kdm5b	G	T	1: 134,613,181		probably benign	Het
Knl1	T	G	2: 119,076,334	S1635A	probably damaging	Het
Lce1b	A	G	3: 92,656,011	S72P	unknown	Het
Lox	T	G	18: 52,520,911		probably null	Het
Mdc1	A	G	17: 35,847,826	D366G	possibly damaging	Het
Meiob	T	C	17: 24,834,047	C344R	probably damaging	Het
Mier2	A	G	10: 79,548,830	V150A	probably damaging	Het
Mon2	A	T	10: 123,031,097	M551K	probably damaging	Het
Mrps15	A	G	4: 126,051,394	T125A	probably benign	Het
Mtmr14	A	G	6: 113,253,732	H99R	probably damaging	Het
Mup4	A	G	4: 59,960,598	M1T	probably null	Het
Mup5	G	A	4: 61,832,370	R179*	probably null	Het
Ncoa3	T	G	2: 166,069,301	V1326G	possibly damaging	Het
Noa1	A	T	5: 77,307,581	N429K	probably benign	Het
Nrxn1	C	T	17: 90,162,404	A241T	probably damaging	Het
Olfr59	A	T	11: 74,289,300	Y218F	probably damaging	Het
Pcdh9	G	A	14: 93,888,035	S233L	probably damaging	Het
Peg3	C	A	7: 6,709,901	S774I	possibly damaging	Het
Phyh	A	G	2: 4,937,809	K321R	probably null	Het
Plcg1	T	A	2: 160,731,920	M35K	probably damaging	Het
Pnisr	C	T	4: 21,874,086		probably benign	Het
Ppargc1b	T	A	18: 61,307,204		probably null	Het
Prcd	A	C	11: 116,657,545	S27R	probably benign	Het
Prx	T	A	7: 27,517,523	M622K	probably benign	Het
Psmd1	T	A	1: 86,071,845	D51E	probably damaging	Het
Psmd13	C	T	7: 140,883,517	T38I	probably damaging	Het
Ptprf	A	C	4: 118,224,899	D1047E	possibly damaging	Het
Rai14	C	A	15: 10,633,228	Q25H	probably damaging	Het
Riiad1	G	A	3: 94,472,869	P40S	possibly damaging	Het
Rnft1	T	A	11: 86,486,270	N53K	probably benign	Het
Scn4a	C	T	11: 106,320,820	R1457H	probably benign	Het
Sema6c	A	T	3: 95,170,788	I492F	probably damaging	Het
Shbg	T	C	11: 69,614,972	H403R	probably damaging	Het
Slc15a5	A	T	6: 138,072,847		probably benign	Het
Slc38a1	G	A	15: 96,587,135	T221M	probably damaging	Het
Slc6a16	T	A	7: 45,261,176	V375E	possibly damaging	Het
Slc6a17	T	A	3: 107,472,176	M559L	probably damaging	Het
Slmap	A	G	14: 26,460,218		probably benign	Het
Sorcs2	G	A	5: 36,026,748	R965W	probably damaging	Het
St8sia4	C	A	1: 95,653,669	R116L	probably damaging	Het
Tcaf1	A	C	6: 42,675,338	S737A	possibly damaging	Het
Thbs2	T	A	17: 14,678,810	Y676F	probably benign	Het
Tmod2	A	G	9: 75,586,042		probably benign	Het
Trim75	T	C	8: 64,982,739		probably null	Het
Ubr5	A	T	15: 38,041,846	S169T	probably benign	Het
Usp54	A	T	14: 20,583,440	Y37*	probably null	Het
Vill	T	C	9: 119,066,014	F100S	probably damaging	Het
Vstm5	A	G	9: 15,257,367	R76G	probably benign	Het
Zfp608	T	C	18: 54,899,249	T540A	probably benign	Het
Zfp947	A	C	17: 22,146,203	N163K	probably benign	Het
Zfyve26	T	C	12: 79,261,799	H228R	possibly damaging	Het

Other mutations in Olfr331

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Olfr331	APN	11	58502194	missense	possibly damaging	0.89
IGL02458:Olfr331	APN	11	58502247	missense	probably benign	0.20
IGL02971:Olfr331	APN	11	58502385	missense	probably damaging	1.00
IGL03346:Olfr331	APN	11	58501755	missense	possibly damaging	0.76
R0416:Olfr331	UTSW	11	58502396	missense	unknown
R1547:Olfr331	UTSW	11	58501825	missense	probably damaging	1.00
R1697:Olfr331	UTSW	11	58501676	missense	probably damaging	1.00
R1717:Olfr331	UTSW	11	58502059	missense	probably benign	0.09
R2194:Olfr331	UTSW	11	58501642	missense	probably damaging	0.97
R3606:Olfr331	UTSW	11	58502131	missense	possibly damaging	0.49
R4457:Olfr331	UTSW	11	58502118	missense	probably damaging	1.00
R4766:Olfr331	UTSW	11	58501668	missense	probably damaging	1.00
R4858:Olfr331	UTSW	11	58501909	missense	probably damaging	1.00
R5475:Olfr331	UTSW	11	58501605	missense	probably benign	0.10
R5822:Olfr331	UTSW	11	58501638	missense	possibly damaging	0.61
R6337:Olfr331	UTSW	11	58502012	nonsense	probably null
R6416:Olfr331	UTSW	11	58502340	missense	probably damaging	1.00
R7101:Olfr331	UTSW	11	58502553	missense	probably benign	0.00
R7108:Olfr331	UTSW	11	58502554	missense	probably benign
R8327:Olfr331	UTSW	11	58502116	missense	probably benign
RF035:Olfr331	UTSW	11	58502382	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACACCACCATGTCCTTCTCAGG -3'
(R):5'- TGTCACTGTGCCCAAGATGCTC -3'

Sequencing Primer
(F):5'- ATGTCCTTCTCAGGGGTGTG -3'
(R):5'- CTACCTGACATTAGCAGGGTC -3'

Posted On

2014-05-14