Incidental Mutation 'IGL02488:Olfr648'
ID295515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr648
Ensembl Gene ENSMUSG00000042909
Gene Nameolfactory receptor 648
SynonymsGA_x6K02T2PBJ9-6914780-6913830, MOR31-12
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.327) question?
Stock #IGL02488
Quality Score
Status
Chromosome7
Chromosomal Location104177598-104183392 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104180271 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 46 (I46F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052659] [ENSMUST00000216612]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052659
AA Change: I46F

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: I46F

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 309 7.7e-7 PFAM
Pfam:7tm_1 43 294 3.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000104877
AA Change: I46F

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: I46F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 309 1.1e-8 PFAM
Pfam:7tm_1 43 294 3.6e-28 PFAM
Pfam:7tm_4 141 287 1.9e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216612
AA Change: I46F

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Olfr648
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Olfr648 APN 7 104180225 missense probably damaging 1.00
IGL02956:Olfr648 APN 7 104180127 missense probably damaging 1.00
R0001:Olfr648 UTSW 7 104179473 nonsense probably null
R0057:Olfr648 UTSW 7 104180329 missense probably benign 0.13
R1054:Olfr648 UTSW 7 104180291 missense probably benign 0.02
R1262:Olfr648 UTSW 7 104179416 splice site probably null
R4589:Olfr648 UTSW 7 104179429 splice site probably null
R4975:Olfr648 UTSW 7 104179529 missense probably damaging 1.00
R5068:Olfr648 UTSW 7 104180241 missense probably damaging 1.00
R5643:Olfr648 UTSW 7 104179884 missense probably benign 0.00
R6195:Olfr648 UTSW 7 104179754 missense possibly damaging 0.78
R6211:Olfr648 UTSW 7 104179747 nonsense probably null
R6233:Olfr648 UTSW 7 104179754 missense possibly damaging 0.78
R6259:Olfr648 UTSW 7 104180054 missense possibly damaging 0.53
R7138:Olfr648 UTSW 7 104180297 missense probably damaging 1.00
R7357:Olfr648 UTSW 7 104179771 missense probably damaging 1.00
R7570:Olfr648 UTSW 7 104179748 missense probably damaging 1.00
R8352:Olfr648 UTSW 7 104179896 missense probably damaging 1.00
R8452:Olfr648 UTSW 7 104179896 missense probably damaging 1.00
X0018:Olfr648 UTSW 7 104179590 missense probably benign 0.00
Posted On2015-04-16