Incidental Mutation 'R0370:Olfr1047'
ID30414
Institutional Source Beutler Lab
Gene Symbol Olfr1047
Ensembl Gene ENSMUSG00000075196
Gene Nameolfactory receptor 1047
SynonymsMOR188-3, GA_x6K02T2Q125-47703682-47702723
MMRRC Submission 038576-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #R0370 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location86226567-86231401 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86228713 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 86 (V86D)
Ref Sequence ENSEMBL: ENSMUSP00000150247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099901] [ENSMUST00000216056]
Predicted Effect probably damaging
Transcript: ENSMUST00000099901
AA Change: V86D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097485
Gene: ENSMUSG00000075196
AA Change: V86D

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5e-51 PFAM
Pfam:7tm_1 41 290 4.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216056
AA Change: V86D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 123,501,554 S666P probably damaging Het
B3gntl1 A T 11: 121,624,154 W263R probably damaging Het
Carmil3 A G 14: 55,495,442 N270S possibly damaging Het
Ctdp1 T C 18: 80,449,354 E642G probably damaging Het
Cyp2b9 A T 7: 26,210,106 K433M probably damaging Het
Dcc A G 18: 71,587,985 V435A possibly damaging Het
Defa26 A T 8: 21,618,859 M87L probably benign Het
Dnah11 T A 12: 117,995,227 I2974L probably benign Het
Dnah3 T C 7: 120,086,720 D131G possibly damaging Het
Dock6 A T 9: 21,814,565 S1447R probably benign Het
Dtl G T 1: 191,575,350 N17K probably benign Het
Grid2 A G 6: 64,345,734 I573V possibly damaging Het
Hoxa9 T C 6: 52,225,704 E134G possibly damaging Het
Kcnn3 A T 3: 89,667,092 N637I probably damaging Het
Ktn1 T C 14: 47,664,075 F97L probably benign Het
Lmbrd2 T C 15: 9,165,852 I271T probably damaging Het
Lrp6 A C 6: 134,479,766 I845S probably damaging Het
Med13l T A 5: 118,741,826 N994K probably benign Het
Mrrf A T 2: 36,177,113 probably null Het
Mtmr1 G A X: 71,388,231 V125I probably damaging Het
Nol8 C T 13: 49,662,447 A677V possibly damaging Het
Olfr309 T A 7: 86,306,849 N88I probably benign Het
Olfr639 T G 7: 104,012,059 L214F probably damaging Het
Paxip1 C A 5: 27,760,086 V659F probably damaging Het
Pclo T C 5: 14,521,090 V163A probably damaging Het
Pkn3 T A 2: 30,087,172 H641Q probably damaging Het
Plekhg6 G A 6: 125,370,660 R444C probably damaging Het
Rfx2 T C 17: 56,799,308 E175G probably benign Het
Samd9l A C 6: 3,377,264 probably benign Het
Sec14l5 A T 16: 5,180,706 T537S probably damaging Het
Serpinb9d A G 13: 33,195,966 E96G probably damaging Het
Setd4 T C 16: 93,591,118 E160G probably damaging Het
Sf3b2 C T 19: 5,274,824 D845N probably damaging Het
Slc16a4 A G 3: 107,301,097 I308V possibly damaging Het
Slco2b1 T A 7: 99,690,437 N100Y probably damaging Het
Sptbn1 A T 11: 30,121,545 S1475R probably benign Het
Tecta T C 9: 42,366,804 D1136G probably benign Het
Tmem94 G C 11: 115,788,717 R273S probably damaging Het
Tns3 A G 11: 8,445,730 S1225P possibly damaging Het
Ugt2b36 A G 5: 87,091,975 Y184H probably benign Het
Vmn2r59 A T 7: 42,012,726 M555K probably benign Het
Other mutations in Olfr1047
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Olfr1047 APN 2 86228629 missense possibly damaging 0.78
IGL01470:Olfr1047 APN 2 86228284 missense probably benign 0.26
IGL02179:Olfr1047 APN 2 86228247 nonsense probably null
IGL02703:Olfr1047 APN 2 86228979 utr 5 prime probably benign
R1452:Olfr1047 UTSW 2 86228455 missense probably damaging 0.99
R1655:Olfr1047 UTSW 2 86228080 missense possibly damaging 0.95
R1866:Olfr1047 UTSW 2 86228728 missense probably damaging 0.99
R1970:Olfr1047 UTSW 2 86228252 missense probably damaging 1.00
R2385:Olfr1047 UTSW 2 86228473 nonsense probably null
R3411:Olfr1047 UTSW 2 86228642 missense probably benign 0.08
R3730:Olfr1047 UTSW 2 86228851 missense probably benign 0.00
R4655:Olfr1047 UTSW 2 86228693 missense probably benign 0.26
R6168:Olfr1047 UTSW 2 86228594 missense probably damaging 0.99
R6190:Olfr1047 UTSW 2 86228234 missense possibly damaging 0.67
R6492:Olfr1047 UTSW 2 86228387 missense possibly damaging 0.91
R7419:Olfr1047 UTSW 2 86228213 missense probably damaging 1.00
R8074:Olfr1047 UTSW 2 86228129 missense possibly damaging 0.55
R8220:Olfr1047 UTSW 2 86228965 missense probably benign 0.00
R8506:Olfr1047 UTSW 2 86228578 missense possibly damaging 0.84
R8559:Olfr1047 UTSW 2 86228644 missense probably benign 0.00
R8723:Olfr1047 UTSW 2 86228442 missense probably damaging 1.00
Z1088:Olfr1047 UTSW 2 86228222 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGAGTTCATCCTCACAATGGC -3'
(R):5'- GGAGACACAACCTTACAGTGGTGAC -3'

Sequencing Primer
(F):5'- TGACTGATGACATTGTAGCCACAG -3'
(R):5'- AATTTGTCCTGATGGGCATCAC -3'
Posted On2013-04-24