Incidental Mutation 'IGL01710:Olfr482'
ID104739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr482
Ensembl Gene ENSMUSG00000059031
Gene Nameolfactory receptor 482
SynonymsMOR204-14, GA_x6K02T2PBJ9-10424354-10423383
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01710
Quality Score
Status
Chromosome7
Chromosomal Location108092999-108097586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 108095242 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 109 (F109L)
Ref Sequence ENSEMBL: ENSMUSP00000150755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081184] [ENSMUST00000217304]
Predicted Effect probably benign
Transcript: ENSMUST00000081184
AA Change: F109L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079948
Gene: ENSMUSG00000059031
AA Change: F109L

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.2e-52 PFAM
Pfam:7tm_1 44 293 8.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207291
Predicted Effect probably benign
Transcript: ENSMUST00000217304
AA Change: F109L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Chst15 T A 7: 132,270,507 D15V probably benign Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ell3 T C 2: 121,441,512 H128R probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Hoxa3 T C 6: 52,170,574 probably benign Het
Kctd12b T C X: 153,689,483 D70G probably damaging Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tcerg1l T A 7: 138,395,060 K149N possibly damaging Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Uba1 C T X: 20,671,365 T274I possibly damaging Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Olfr482
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Olfr482 APN 7 108094839 missense probably damaging 1.00
IGL01482:Olfr482 APN 7 108095486 missense probably benign 0.01
IGL02064:Olfr482 APN 7 108095247 missense probably benign 0.20
IGL02930:Olfr482 APN 7 108095414 missense probably damaging 1.00
IGL03206:Olfr482 APN 7 108095054 missense probably damaging 1.00
IGL03255:Olfr482 APN 7 108094817 missense probably damaging 1.00
R0378:Olfr482 UTSW 7 108095222 missense probably benign 0.10
R0552:Olfr482 UTSW 7 108094778 missense probably benign 0.01
R1538:Olfr482 UTSW 7 108095286 missense probably damaging 1.00
R1771:Olfr482 UTSW 7 108095609 splice site probably null
R1939:Olfr482 UTSW 7 108095141 missense probably benign 0.06
R2258:Olfr482 UTSW 7 108095195 missense possibly damaging 0.95
R4169:Olfr482 UTSW 7 108095384 missense probably damaging 1.00
R4170:Olfr482 UTSW 7 108095073 missense probably benign 0.00
R4485:Olfr482 UTSW 7 108095015 missense probably benign
R4803:Olfr482 UTSW 7 108095459 missense probably damaging 0.99
R4887:Olfr482 UTSW 7 108095096 missense probably benign 0.18
R5059:Olfr482 UTSW 7 108095315 missense probably damaging 1.00
R5445:Olfr482 UTSW 7 108094742 missense possibly damaging 0.69
R5539:Olfr482 UTSW 7 108095226 missense probably benign 0.23
R5644:Olfr482 UTSW 7 108094804 nonsense probably null
R6200:Olfr482 UTSW 7 108095525 frame shift probably null
X0021:Olfr482 UTSW 7 108094959 missense probably benign 0.20
Posted On2014-01-21