Incidental Mutation 'R4169:Olfr482'
ID320694
Institutional Source Beutler Lab
Gene Symbol Olfr482
Ensembl Gene ENSMUSG00000059031
Gene Nameolfactory receptor 482
SynonymsMOR204-14, GA_x6K02T2PBJ9-10424354-10423383
MMRRC Submission 041010-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R4169 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location108092999-108097586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108095384 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 62 (M62K)
Ref Sequence ENSEMBL: ENSMUSP00000150755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081184] [ENSMUST00000217304]
Predicted Effect probably damaging
Transcript: ENSMUST00000081184
AA Change: M62K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079948
Gene: ENSMUSG00000059031
AA Change: M62K

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 damaging
Transcript: ENSMUST00000217304
AA Change: M62K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 T C 4: 152,217,793 C121R probably damaging Het
Ampd1 T A 3: 103,094,841 M546K probably damaging Het
Birc3 T A 9: 7,849,683 D535V possibly damaging Het
Btn1a1 A G 13: 23,465,155 L9P probably benign Het
Cmip A T 8: 117,456,917 N743I probably damaging Het
Col4a2 C T 8: 11,429,391 P758L probably benign Het
Ddx50 A T 10: 62,640,770 Y241* probably null Het
Elk3 A G 10: 93,265,335 probably null Het
Fbn1 T C 2: 125,363,952 T1042A possibly damaging Het
Gm5445 A G 13: 12,378,646 noncoding transcript Het
Gnat3 T C 5: 18,003,864 F189L probably damaging Het
Hectd1 T C 12: 51,790,225 T815A probably damaging Het
Hmcn1 A C 1: 150,595,999 probably null Het
Hrc A G 7: 45,336,757 D444G probably benign Het
Ighv1-53 T A 12: 115,158,546 I70F possibly damaging Het
Kat7 A G 11: 95,280,472 F469L probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Krt81 T A 15: 101,461,312 M242L probably benign Het
Krtap6-1 A G 16: 89,031,696 probably null Het
Man2c1 A G 9: 57,138,026 D473G probably benign Het
Mthfr-ps1 T C 5: 78,474,589 noncoding transcript Het
Nop53 A T 7: 15,942,319 W152R probably benign Het
Olfr220 T A 1: 174,449,596 S324R unknown Het
Olfr281 A G 15: 98,456,997 E229G probably benign Het
Pcdh1 A T 18: 38,198,305 N548K probably damaging Het
Pcdhga12 A G 18: 37,766,414 I100V probably benign Het
Piezo2 T C 18: 63,050,604 H1743R probably benign Het
Pkdrej A G 15: 85,816,314 V1807A probably benign Het
Rabl2 T C 15: 89,590,379 M1V probably null Het
Rexo5 A G 7: 119,827,398 probably benign Het
Rfng C G 11: 120,783,946 G73R probably benign Het
Rps6ka4 A G 19: 6,831,820 L459P possibly damaging Het
Samd11 T A 4: 156,247,746 D536V probably damaging Het
Slc9a5 A G 8: 105,357,400 T451A possibly damaging Het
Snapc1 T A 12: 73,982,491 N349K probably benign Het
Sox1ot A G 8: 12,430,544 noncoding transcript Het
Tmem178 C T 17: 80,944,803 H39Y possibly damaging Het
Trav8n-2 A T 14: 53,346,418 T111S possibly damaging Het
Ttn T A 2: 76,872,759 probably benign Het
Ttn T C 2: 76,932,565 D3250G probably damaging Het
Ube2nl T A 7: 61,549,632 noncoding transcript Het
Vps25 T C 11: 101,254,092 S39P probably damaging Het
Zkscan14 G A 5: 145,196,175 T182I possibly damaging 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
IGL01710:Olfr482 APN 7 108095242 missense probably benign 0.00
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
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
R7171:Olfr482 UTSW 7 108095135 missense probably benign 0.00
X0021:Olfr482 UTSW 7 108094959 missense probably benign 0.20
Predicted Primers
Posted On2015-06-12