Incidental Mutation 'IGL01109:Olfr1278'
ID50537
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: 0.068) question?
Stock #IGL01109
Quality Score
Status
Chromosome2
Chromosomal Location111290136-111298886 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 111292519 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 84 (D84N)
Ref Sequence ENSEMBL: ENSMUSP00000150587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090330] [ENSMUST00000213516] [ENSMUST00000213727] [ENSMUST00000214669] [ENSMUST00000215210] [ENSMUST00000216229]
Predicted Effect probably benign
Transcript: ENSMUST00000090330
AA Change: D84N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000087802
Gene: ENSMUSG00000068647
AA Change: D84N

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 benign
Transcript: ENSMUST00000213516
AA Change: D84N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000213727
AA Change: D84N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000214669
AA Change: D84N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215210
AA Change: D84N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000216229
AA Change: D84N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
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
Alpk2 T C 18: 65,307,140 D861G probably benign Het
Anapc4 A G 5: 52,848,628 T326A probably damaging Het
Atm T C 9: 53,490,293 I1425M probably damaging Het
Bend5 T C 4: 111,448,641 L294P probably damaging Het
Casp7 T A 19: 56,436,745 D193E probably benign Het
Cdc16 T C 8: 13,764,606 V130A probably benign Het
Chl1 T G 6: 103,715,393 Y331D probably damaging Het
Cntn1 C A 15: 92,339,577 Y1017* probably null Het
Cyb5d1 C A 11: 69,393,784 probably null Het
Cyp2c38 A G 19: 39,462,885 probably null Het
Dzip3 T C 16: 48,929,674 M827V probably benign Het
Ehd1 T A 19: 6,298,147 M385K possibly damaging Het
Eya3 C A 4: 132,693,000 Y52* probably null Het
Itsn1 C T 16: 91,806,201 probably benign Het
Ktn1 A T 14: 47,714,721 N983I probably damaging Het
Lrrk2 T A 15: 91,738,832 N1068K probably damaging Het
Mup6 T A 4: 60,006,001 N156K probably damaging Het
Nedd9 T A 13: 41,316,234 H481L probably benign Het
Obscn T C 11: 59,133,762 D484G probably damaging Het
Ogdh T C 11: 6,348,790 V674A probably damaging Het
Olfr1079 T A 2: 86,538,330 D195V probably benign Het
Olfr1166 T C 2: 88,124,679 Q102R probably damaging Het
Olfr1197 T C 2: 88,729,065 D178G probably damaging Het
Olfr1467 A G 19: 13,364,699 I24V probably benign Het
Olfr968 T C 9: 39,771,997 M268V probably benign Het
Osbpl6 A G 2: 76,549,527 T154A probably damaging Het
P2rx1 T C 11: 73,008,215 V84A probably damaging Het
Pcdh11x G A X: 120,400,914 V685I possibly damaging Het
Ppp4r3b T A 11: 29,188,288 V212E probably damaging Het
Prune2 A G 19: 17,123,879 D2249G probably benign Het
Slc5a8 T A 10: 88,906,392 S317T possibly damaging Het
Ssc5d T A 7: 4,937,112 L822* probably null Het
Swt1 A G 1: 151,411,139 S201P probably damaging Het
Tet1 T A 10: 62,879,774 M81L probably benign Het
Tex9 T A 9: 72,488,067 N39I probably damaging Het
Ttc4 T C 4: 106,663,163 Y378C probably damaging Het
Ubap2 T C 4: 41,195,155 N1131S probably damaging Het
Ugt2b35 C T 5: 87,008,306 T419I probably damaging Het
Ugt3a2 T G 15: 9,367,268 F366V probably damaging Het
Zfp324 A G 7: 12,969,435 T95A probably benign Het
Other mutations in Olfr1278
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03327:Olfr1278 APN 2 111292462 missense probably damaging 1.00
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 On2013-06-21