Incidental Mutation 'R1452:Olfr1047'
ID161049
Institutional Source Beutler Lab
Gene Symbol Olfr1047
Ensembl Gene ENSMUSG00000075196
Gene Nameolfactory receptor 1047
SynonymsMOR188-3, GA_x6K02T2Q125-47703682-47702723
MMRRC Submission 039507-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #R1452 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location86226567-86231401 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86228455 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 172 (N172I)
Ref Sequence ENSEMBL: ENSMUSP00000150247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099901] [ENSMUST00000216056]
Predicted Effect probably damaging
Transcript: ENSMUST00000099901
AA Change: N172I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097485
Gene: ENSMUSG00000075196
AA Change: N172I

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: N172I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.1250 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T C 1: 93,152,939 Y415C probably damaging Het
2810474O19Rik A T 6: 149,326,632 K392I probably damaging Het
A2m A G 6: 121,678,056 I1446M probably benign Het
Acaca T A 11: 84,295,059 probably benign Het
Adgre4 A T 17: 55,784,996 E85D probably benign Het
Akt3 A T 1: 177,131,067 Y26N possibly damaging Het
Arl15 T C 13: 113,967,783 V132A probably benign Het
Atp6v1h A G 1: 5,098,137 probably benign Het
Atrip T A 9: 109,072,659 D110V probably damaging Het
Bahcc1 T G 11: 120,282,239 probably benign Het
Cd53 C T 3: 106,768,959 G31S probably damaging Het
Cdk14 T C 5: 4,888,927 S404G possibly damaging Het
Cers3 A T 7: 66,783,404 K156N probably damaging Het
Colgalt2 C A 1: 152,504,153 L448M probably damaging Het
Cox15 G T 19: 43,746,905 T141K probably damaging Het
Csnk2a2 C T 8: 95,457,375 probably benign Het
Cyp2b10 A T 7: 25,925,388 probably benign Het
Cyp2c55 A G 19: 39,011,090 Y80C probably damaging Het
Depdc1a A G 3: 159,526,691 Y693C possibly damaging Het
Des T C 1: 75,363,477 S343P probably damaging Het
Dync1i2 T C 2: 71,249,863 probably benign Het
Eif3m T A 2: 105,006,777 Q199L probably damaging Het
Emsy G T 7: 98,600,674 T802K probably damaging Het
Endov A G 11: 119,491,825 T33A probably damaging Het
Epb41l5 G A 1: 119,549,166 T728I probably damaging Het
Fbxo39 A G 11: 72,318,402 I363V probably benign Het
Gm8674 C T 13: 49,900,517 noncoding transcript Het
Gm9733 G T 3: 15,332,152 T24K unknown Het
Il6st T A 13: 112,481,464 N137K possibly damaging Het
Inf2 A G 12: 112,601,344 N136S probably damaging Het
Iqub A T 6: 24,491,559 I376N probably benign Het
Kansl3 A G 1: 36,354,793 probably benign Het
Kbtbd2 A T 6: 56,781,924 H71Q probably damaging Het
Lgals8 G T 13: 12,453,327 Y140* probably null Het
Macf1 T A 4: 123,493,998 I924L probably benign Het
Mcoln2 A T 3: 146,181,814 T329S possibly damaging Het
Mex3d A T 10: 80,381,520 L621Q probably damaging Het
Mut A G 17: 40,937,468 probably benign Het
Ncor1 T C 11: 62,334,631 H1038R probably damaging Het
Neb A G 2: 52,271,297 probably null Het
Ngrn A G 7: 80,264,772 T224A probably benign Het
Nin G A 12: 70,017,650 R2019* probably null Het
Nphp4 C G 4: 152,547,018 Q792E probably damaging Het
Olfr1166 C T 2: 88,124,311 V225I probably benign Het
Olfr140 C T 2: 90,051,671 V218I possibly damaging Het
Olfr373 C T 8: 72,100,176 Q139* probably null Het
Olfr70 C T 4: 43,696,823 V117M probably benign Het
Pde4dip C A 3: 97,724,102 V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 probably benign Het
Pole2 G A 12: 69,207,929 L381F probably benign Het
Ppp2r5e A G 12: 75,469,536 probably benign Het
Prim2 T A 1: 33,630,404 E163D probably benign Het
Prrc2b A T 2: 32,194,985 D296V probably damaging Het
Pter A G 2: 12,978,621 probably benign Het
Robo2 C A 16: 73,961,910 V662L probably damaging Het
Slco1b2 A T 6: 141,672,200 I424F probably benign Het
Snx29 A T 16: 11,631,471 H260L probably damaging Het
Stil A G 4: 115,039,195 N959S probably benign Het
Taar8c A T 10: 24,101,610 D101E probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trpc6 G A 9: 8,653,147 M573I probably damaging Het
Tsr1 A T 11: 74,899,599 D171V probably benign Het
Ube4b T C 4: 149,371,169 T348A probably damaging Het
Vmn1r85 A T 7: 13,084,881 I112N probably damaging Het
Vps36 A G 8: 22,218,210 probably null Het
Wdfy3 G A 5: 101,937,738 A630V possibly damaging Het
Wdsub1 A T 2: 59,876,800 D14E probably null Het
Ylpm1 T C 12: 85,030,383 I1294T possibly damaging Het
Zdhhc17 A G 10: 110,955,075 F378L 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
R0370:Olfr1047 UTSW 2 86228713 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
Z1088:Olfr1047 UTSW 2 86228222 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCTGGAATTAGGCTGCACATAC -3'
(R):5'- TGATCATCCTCACCACAGTGGACTC -3'

Sequencing Primer
(F):5'- CAATGACTACTGTCAGGTGGGAC -3'
(R):5'- ACATCTGGCGATTACAGATCTTGG -3'
Posted On2014-03-14