Incidental Mutation 'IGL03327:Olfr1278'
ID416671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1278
Ensembl Gene ENSMUSG00000068647
Gene Nameolfactory receptor 1278
SynonymsGA_x6K02T2Q125-72343713-72344654, MOR245-11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03327
Quality Score
Status
Chromosome2
Chromosomal Location111290136-111298886 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111292462 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 65 (N65Y)
Ref Sequence ENSEMBL: ENSMUSP00000150587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090330] [ENSMUST00000213516] [ENSMUST00000213727] [ENSMUST00000214669] [ENSMUST00000215210] [ENSMUST00000216229]
Predicted Effect probably damaging
Transcript: ENSMUST00000090330
AA Change: N65Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087802
Gene: ENSMUSG00000068647
AA Change: N65Y

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 2.3e-43 PFAM
Pfam:7TM_GPCR_Srsx 35 281 5.3e-6 PFAM
Pfam:7tm_1 41 288 1.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213516
AA Change: N65Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213727
AA Change: N65Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214669
AA Change: N65Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215210
AA Change: N65Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216229
AA Change: N65Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,761,670 N79S probably damaging Het
Adcy8 T C 15: 64,920,267 Y280C probably damaging Het
Anapc1 T C 2: 128,623,934 T1647A probably benign Het
Ano3 T C 2: 110,697,178 I562V possibly damaging Het
Ash1l C T 3: 89,023,083 P1956S probably benign Het
Cd160 C T 3: 96,805,533 probably null Het
Chd3 G T 11: 69,350,186 A1527E probably damaging Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cntnap3 G A 13: 64,887,768 Q44* probably null Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Col6a6 T C 9: 105,767,234 D1285G possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Dcaf1 T C 9: 106,858,624 S924P possibly damaging Het
Eif5b T C 1: 38,041,691 probably benign Het
Fat1 A C 8: 44,950,468 K85N probably damaging Het
Fnip2 T C 3: 79,518,081 E69G probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Galc A G 12: 98,207,476 probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Hmmr A G 11: 40,715,415 C243R probably damaging Het
Il25 T C 14: 54,935,360 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Kifc3 C T 8: 95,108,432 D242N probably damaging Het
Lig1 T G 7: 13,303,855 I677S probably damaging Het
Lrig1 G T 6: 94,606,123 A1004E probably benign Het
Nras A G 3: 103,059,024 T35A probably damaging Het
Nt5c1b C T 12: 10,374,861 Q136* probably null Het
Olfr1046 C T 2: 86,217,274 W145* probably null Het
Olfr815 T G 10: 129,902,582 I43L possibly damaging Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Plpp2 T C 10: 79,530,984 probably null Het
Ptpre G A 7: 135,672,822 probably null Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Sh3bp4 C A 1: 89,144,163 Y244* probably null Het
Trip11 A T 12: 101,883,418 N1462K possibly damaging Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Virma A G 4: 11,518,984 T694A probably benign Het
Wdr35 T C 12: 8,978,694 probably benign Het
Xdh T C 17: 73,916,792 E535G probably benign Het
Other mutations in Olfr1278
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Olfr1278 APN 2 111292519 missense probably benign 0.11
IGL02301:Olfr1278 APN 2 111292697 missense probably benign 0.03
IGL02480:Olfr1278 APN 2 111292513 missense possibly damaging 0.66
IGL03056:Olfr1278 APN 2 111293172 missense possibly damaging 0.90
R0284:Olfr1278 UTSW 2 111292586 missense probably benign 0.34
R1614:Olfr1278 UTSW 2 111293066 missense probably damaging 0.97
R1698:Olfr1278 UTSW 2 111292560 nonsense probably null
R1733:Olfr1278 UTSW 2 111292865 missense probably damaging 0.98
R2265:Olfr1278 UTSW 2 111293179 missense probably benign 0.01
R4857:Olfr1278 UTSW 2 111293143 missense possibly damaging 0.95
R5061:Olfr1278 UTSW 2 111292487 missense probably damaging 1.00
R5208:Olfr1278 UTSW 2 111292601 missense probably damaging 1.00
R5940:Olfr1278 UTSW 2 111292384 missense possibly damaging 0.80
R6355:Olfr1278 UTSW 2 111292885 missense probably benign 0.05
R6820:Olfr1278 UTSW 2 111293110 missense probably damaging 1.00
Posted On2016-08-02