Incidental Mutation 'IGL03122:Olfr1500'
ID410016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1500
Ensembl Gene ENSMUSG00000054526
Gene Nameolfactory receptor 1500
SynonymsMOR212-4P, GA_x6K02T2RE5P-4160554-4159619
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL03122
Quality Score
Status
Chromosome19
Chromosomal Location13826882-13830488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13827650 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 249 (S249P)
Ref Sequence ENSEMBL: ENSMUSP00000151471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067670] [ENSMUST00000214475] [ENSMUST00000215760] [ENSMUST00000216287] [ENSMUST00000217079] [ENSMUST00000219674]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067670
AA Change: S249P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067303
Gene: ENSMUSG00000054526
AA Change: S249P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.8e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 220 9.5e-9 PFAM
Pfam:7tm_1 41 290 4.1e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214475
AA Change: S249P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214579
Predicted Effect possibly damaging
Transcript: ENSMUST00000215760
AA Change: S249P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216287
AA Change: S249P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217079
AA Change: S249P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219674
AA Change: S249P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,196,514 Q84R possibly damaging Het
Adgrg7 G A 16: 56,770,362 probably benign Het
Afap1l1 T C 18: 61,733,831 D719G probably benign Het
Amph C T 13: 19,102,943 T274M probably damaging Het
Atp2c2 T A 8: 119,742,675 D396E possibly damaging Het
Atpaf1 T C 4: 115,791,278 I164T probably damaging Het
Avpr1b C A 1: 131,600,519 P260Q probably damaging Het
Cacna1a T C 8: 84,462,676 probably benign Het
Cald1 A G 6: 34,765,028 I449V probably damaging Het
Ccdc24 A G 4: 117,871,745 probably null Het
Cenpk C A 13: 104,242,377 Q134K probably damaging Het
Clasp1 A G 1: 118,510,277 N373D probably damaging Het
Col7a1 T A 9: 108,961,683 S1042T unknown Het
Cry2 G A 2: 92,413,295 R439C probably damaging Het
Dip2a G T 10: 76,275,046 D1138E probably benign Het
Dlgap3 T C 4: 127,195,225 S205P possibly damaging Het
Echdc2 T A 4: 108,165,580 S18T probably benign Het
Efcab2 T A 1: 178,437,477 V36E probably damaging Het
Galk1 A T 11: 116,010,239 probably null Het
Hoxc11 A T 15: 102,954,955 N144Y probably damaging Het
Ift140 T A 17: 25,086,910 C824S probably damaging Het
Inf2 A G 12: 112,604,229 S401G probably benign Het
Kcnn1 T G 8: 70,855,080 D106A probably damaging Het
Lama4 A G 10: 39,067,963 N754S probably benign Het
March6 A G 15: 31,478,293 probably null Het
Nlrp1b A C 11: 71,181,833 C395G probably benign Het
Olfr136 T C 17: 38,335,301 V48A probably benign Het
Olfr194 T C 16: 59,119,438 M211V probably benign Het
Olfr730 A T 14: 50,187,004 M71K probably damaging Het
Scel A G 14: 103,599,406 R477G possibly damaging Het
Sdk2 A G 11: 113,842,068 S984P probably damaging Het
Slc4a7 C T 14: 14,782,040 probably benign Het
Tas2r103 A G 6: 133,036,909 S65P probably damaging Het
Tnip2 T C 5: 34,503,751 E119G possibly damaging Het
Zgrf1 T A 3: 127,588,133 L310M possibly damaging Het
Other mutations in Olfr1500
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02004:Olfr1500 APN 19 13828063 missense possibly damaging 0.93
R0003:Olfr1500 UTSW 19 13827686 missense probably damaging 1.00
R0003:Olfr1500 UTSW 19 13827686 missense probably damaging 1.00
R0118:Olfr1500 UTSW 19 13827565 missense possibly damaging 0.74
R0458:Olfr1500 UTSW 19 13828229 missense probably benign 0.01
R0507:Olfr1500 UTSW 19 13827776 missense possibly damaging 0.49
R0515:Olfr1500 UTSW 19 13827821 missense probably damaging 0.99
R0907:Olfr1500 UTSW 19 13827856 missense probably damaging 1.00
R1524:Olfr1500 UTSW 19 13828315 missense probably damaging 1.00
R2883:Olfr1500 UTSW 19 13827875 missense probably damaging 1.00
R4278:Olfr1500 UTSW 19 13828429 start gained probably benign
R4824:Olfr1500 UTSW 19 13828354 missense probably damaging 1.00
R4981:Olfr1500 UTSW 19 13828094 missense probably damaging 1.00
R5785:Olfr1500 UTSW 19 13827619 missense probably damaging 1.00
R6597:Olfr1500 UTSW 19 13828457 start gained probably benign
Posted On2016-08-02