Incidental Mutation 'IGL01393:Olfr1298'
ID79277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1298
Ensembl Gene ENSMUSG00000109487
Gene Nameolfactory receptor 1298
SynonymsGA_x6K02T2Q125-72697413-72696475, MOR248-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL01393
Quality Score
Status
Chromosome2
Chromosomal Location111644498-111649201 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111645256 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 247 (V247A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]
Predicted Effect probably damaging
Transcript: ENSMUST00000090322
AA Change: V247A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: V247A

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 6.7e-48 PFAM
Pfam:7tm_1 41 287 1.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119566
AA Change: V247A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000208284
AA Change: V247A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 36,096,422 V126I possibly damaging Het
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd3 T C 1: 189,000,290 I74V probably benign Het
Kctd5 A T 17: 24,059,318 probably null Het
Lrsam1 A T 2: 32,955,173 probably benign Het
Mblac1 A G 5: 138,194,774 N126S possibly damaging Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Pard6b T A 2: 168,087,378 S35T probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Pot1a G A 6: 25,744,631 R625* probably null Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Rev1 A G 1: 38,092,063 V168A probably damaging Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging Het
Other mutations in Olfr1298
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Olfr1298 APN 2 111645380 missense probably benign 0.00
IGL02605:Olfr1298 APN 2 111645505 missense probably benign 0.00
IGL02652:Olfr1298 APN 2 111645494 missense probably benign 0.16
IGL02669:Olfr1298 APN 2 111645891 nonsense probably null
R0197:Olfr1298 UTSW 2 111645791 missense probably benign 0.00
R0701:Olfr1298 UTSW 2 111645791 missense probably benign 0.00
R0883:Olfr1298 UTSW 2 111645791 missense probably benign 0.00
R1563:Olfr1298 UTSW 2 111645682 missense probably damaging 1.00
R1567:Olfr1298 UTSW 2 111645926 missense possibly damaging 0.92
R1740:Olfr1298 UTSW 2 111645869 missense probably damaging 0.97
R2142:Olfr1298 UTSW 2 111645221 missense probably benign 0.04
R3949:Olfr1298 UTSW 2 111645526 missense possibly damaging 0.67
R4766:Olfr1298 UTSW 2 111645881 missense probably benign
R4924:Olfr1298 UTSW 2 111645776 missense possibly damaging 0.87
R7320:Olfr1298 UTSW 2 111645952 missense probably benign 0.03
R7695:Olfr1298 UTSW 2 111645625 missense probably damaging 1.00
R7961:Olfr1298 UTSW 2 111645937 missense probably damaging 0.97
Posted On2013-11-05