Incidental Mutation 'IGL02493:Olfr480'
ID295716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr480
Ensembl Gene ENSMUSG00000063120
Gene Nameolfactory receptor 480
SynonymsGA_x6K02T2PBJ9-10395807-10394869, MOR204-32
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02493
Quality Score
Status
Chromosome7
Chromosomal Location108064878-108067346 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108065805 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 331 (M331K)
Ref Sequence ENSEMBL: ENSMUSP00000071583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071658] [ENSMUST00000217653]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071658
AA Change: M331K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071583
Gene: ENSMUSG00000063120
AA Change: M331K

DomainStartEndE-ValueType
Pfam:7tm_4 61 338 1.7e-50 PFAM
Pfam:7tm_1 71 320 1.4e-20 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: M301K

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-49 PFAM
Pfam:7tm_1 41 290 8.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217653
AA Change: M301K

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 60,016,463 S43R probably benign Het
Afap1l1 G T 18: 61,737,523 Q595K possibly damaging Het
Alpk2 T C 18: 65,350,331 E202G probably benign Het
Ap3b1 T C 13: 94,404,020 V150A probably damaging Het
BC037034 T C 5: 138,263,170 probably null Het
Bcas3 T C 11: 85,495,882 I381T probably damaging Het
Best3 A T 10: 117,024,601 R589W possibly damaging Het
Birc6 A G 17: 74,652,059 probably benign Het
Clcn4 A C 7: 7,284,244 D728E probably damaging Het
Commd2 C A 3: 57,651,659 probably benign Het
Csrp1 T A 1: 135,751,063 F175L probably damaging Het
Eif3c A T 7: 126,558,901 N294K probably damaging Het
Fam184a A G 10: 53,694,693 probably null Het
Fndc1 G T 17: 7,775,545 P297Q unknown Het
Galnt13 A G 2: 54,880,137 I314V probably benign Het
Gimap6 T A 6: 48,702,669 K144N probably damaging Het
Gm10188 A T 1: 132,229,405 C74* probably null Het
Gpatch2 C T 1: 187,233,128 probably benign Het
Hace1 T A 10: 45,588,419 M39K probably damaging Het
Has2 G T 15: 56,667,924 T465K probably damaging Het
Homer3 T A 8: 70,290,071 V144D probably benign Het
Ift140 A T 17: 25,087,924 K878* probably null Het
Ikbip A G 10: 91,096,594 N367D probably damaging Het
Immt T C 6: 71,844,716 probably benign Het
Isca1 A G 13: 59,762,782 V32A possibly damaging Het
Kcnu1 T A 8: 25,937,520 N288K possibly damaging Het
Kmt2b C T 7: 30,569,511 probably benign Het
Lrguk T A 6: 34,129,192 D717E probably benign Het
Lrp1 C T 10: 127,581,778 G1037E probably damaging Het
Man2a2 T A 7: 80,369,615 Q37L possibly damaging Het
Msh4 C T 3: 153,877,908 probably null Het
Mtf1 C T 4: 124,821,319 R246W probably damaging Het
Mvb12b A G 2: 33,840,209 S57P probably benign Het
Nat8f5 A G 6: 85,817,562 F139L probably benign Het
Npepps A G 11: 97,238,159 F400L probably damaging Het
Ntsr2 T A 12: 16,658,389 S248T possibly damaging Het
Olfr1450 T C 19: 12,953,774 F62L probably benign Het
Oplah G A 15: 76,300,955 R853* probably null Het
Plekhh2 G A 17: 84,606,963 probably null Het
Pskh1 G A 8: 105,929,756 V355I probably benign Het
Rab31 A T 17: 65,717,552 M44K possibly damaging Het
Slc5a4b A G 10: 76,075,015 V329A probably damaging Het
Slc5a7 A G 17: 54,293,880 Y76H probably damaging Het
Treh A T 9: 44,682,949 D164V possibly damaging Het
Trim6 A G 7: 104,232,640 Y366C probably benign Het
Ubr7 T C 12: 102,768,220 V251A probably benign Het
Vmn1r35 T A 6: 66,679,479 N69I possibly damaging Het
Zan A G 5: 137,435,706 L2255P unknown Het
Other mutations in Olfr480
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Olfr480 APN 7 108066288 missense probably benign 0.32
IGL02060:Olfr480 APN 7 108066671 missense probably benign 0.03
IGL02392:Olfr480 APN 7 108066503 missense probably benign 0.10
IGL02634:Olfr480 APN 7 108066771 missense probably benign 0.00
F5770:Olfr480 UTSW 7 108066678 missense probably benign 0.11
R0446:Olfr480 UTSW 7 108066725 nonsense probably null
R1070:Olfr480 UTSW 7 108066651 missense probably benign 0.00
R1510:Olfr480 UTSW 7 108066528 missense probably damaging 1.00
R1862:Olfr480 UTSW 7 108066725 nonsense probably null
R1863:Olfr480 UTSW 7 108066725 nonsense probably null
R1885:Olfr480 UTSW 7 108066778 missense probably benign 0.00
R1886:Olfr480 UTSW 7 108066778 missense probably benign 0.00
R1887:Olfr480 UTSW 7 108066778 missense probably benign 0.00
R3609:Olfr480 UTSW 7 108066369 missense probably damaging 1.00
R3921:Olfr480 UTSW 7 108065901 missense possibly damaging 0.94
R4259:Olfr480 UTSW 7 108065893 nonsense probably null
R5276:Olfr480 UTSW 7 108066216 nonsense probably null
R6224:Olfr480 UTSW 7 108066742 missense probably benign 0.00
R8059:Olfr480 UTSW 7 108066016 missense probably benign 0.01
R8229:Olfr480 UTSW 7 108066587 missense probably benign 0.01
R8271:Olfr480 UTSW 7 108065773 missense probably damaging 0.99
R8926:Olfr480 UTSW 7 108066306 missense probably benign 0.06
V7581:Olfr480 UTSW 7 108066678 missense probably benign 0.11
X0021:Olfr480 UTSW 7 108066588 missense probably benign 0.01
X0066:Olfr480 UTSW 7 108066435 missense probably benign 0.00
Z1088:Olfr480 UTSW 7 108066327 missense probably damaging 0.99
Posted On2015-04-16