Incidental Mutation 'R0152:Olfr293'
ID22781
Institutional Source Beutler Lab
Gene Symbol Olfr293
Ensembl Gene ENSMUSG00000063394
Gene Nameolfactory receptor 293
SynonymsGA_x6K02T2NHDJ-9457744-9456734, MOR221-3
MMRRC Submission 038435-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R0152 (G1)
Quality Score225
Status Validated (trace)
Chromosome7
Chromosomal Location86649061-86666045 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86664511 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 283 (Y283F)
Ref Sequence ENSEMBL: ENSMUSP00000149959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]
Predicted Effect probably damaging
Transcript: ENSMUST00000081474
AA Change: Y283F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: Y283F

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2.1e-45 PFAM
Pfam:7tm_1 45 295 1.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214401
AA Change: Y283F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215280
AA Change: Y283F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5892 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,689 D834G probably damaging Het
Abca13 T A 11: 9,581,724 H4650Q probably damaging Het
Aqr T A 2: 114,159,010 T111S probably benign Het
Arfip2 G A 7: 105,637,223 T124M probably damaging Het
Arhgap44 G T 11: 65,011,919 A574E probably benign Het
Arhgef26 T C 3: 62,423,544 S560P probably damaging Het
Car5a T A 8: 121,916,446 N273I probably damaging Het
Cd4 G A 6: 124,867,746 Q359* probably null Het
Cgrrf1 G A 14: 46,853,913 C298Y probably damaging Het
Clip3 G A 7: 30,303,432 A416T probably benign Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Eif3e G A 15: 43,252,236 A378V possibly damaging Het
Ercc6 C G 14: 32,546,905 probably benign Het
Eri2 A G 7: 119,790,383 V104A probably damaging Het
Exph5 T A 9: 53,353,204 probably null Het
Hmcn1 A T 1: 150,663,879 Y2954N probably benign Het
Itga2 C T 13: 114,866,314 G547R probably benign Het
Kbtbd11 T C 8: 15,027,428 V9A probably damaging Het
Ldb2 T C 5: 44,541,799 D99G possibly damaging Het
Mfsd12 G T 10: 81,357,799 D68Y probably damaging Het
Mgarp T C 3: 51,388,963 D228G probably benign Het
Myh14 A T 7: 44,623,181 L1441Q probably damaging Het
Obscn T C 11: 59,052,576 D4810G probably benign Het
Olfr1331 T A 4: 118,868,886 I34N possibly damaging Het
Olfr1448 A G 19: 12,920,108 V67A possibly damaging Het
Olfr372 C T 8: 72,058,400 T240M probably damaging Het
Olfr948 A G 9: 39,319,461 I51T probably benign Het
Pdhx A G 2: 103,028,280 V393A probably benign Het
Pdpk1 C T 17: 24,106,946 R92H possibly damaging Het
Pgr A T 9: 8,965,022 I889F probably benign Het
Pum2 T A 12: 8,728,754 I468K possibly damaging Het
Recql5 A G 11: 115,894,673 S666P probably benign Het
Rims4 C T 2: 163,863,929 V262M possibly damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc26a4 T C 12: 31,529,498 I588M probably damaging Het
Slc9a2 A G 1: 40,742,804 T398A probably damaging Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Tub A T 7: 109,020,927 N93Y probably damaging Het
Usp3 T C 9: 66,540,150 T181A probably damaging Het
Vars2 A G 17: 35,660,027 L637P probably damaging Het
Vmn2r1 T C 3: 64,081,819 S60P possibly damaging Het
Wdcp A G 12: 4,851,583 S480G probably benign Het
Zbtb38 T C 9: 96,686,280 Y917C probably damaging Het
Zfp68 T C 5: 138,606,613 K445E probably damaging Het
Zmynd10 A G 9: 107,550,945 probably null Het
Other mutations in Olfr293
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Olfr293 APN 7 86664136 missense probably damaging 0.97
IGL02659:Olfr293 APN 7 86664081 missense probably benign 0.06
IGL02730:Olfr293 APN 7 86664067 missense probably damaging 0.98
IGL02959:Olfr293 APN 7 86664529 missense probably damaging 0.98
R0045:Olfr293 UTSW 7 86664340 missense possibly damaging 0.90
R0094:Olfr293 UTSW 7 86664294 missense probably benign
R0094:Olfr293 UTSW 7 86664294 missense probably benign
R0669:Olfr293 UTSW 7 86664336 missense possibly damaging 0.79
R0942:Olfr293 UTSW 7 86664106 missense probably damaging 0.98
R1467:Olfr293 UTSW 7 86663977 missense possibly damaging 0.90
R1467:Olfr293 UTSW 7 86663977 missense possibly damaging 0.90
R1656:Olfr293 UTSW 7 86664123 missense probably benign 0.04
R2010:Olfr293 UTSW 7 86664603 missense probably benign
R2056:Olfr293 UTSW 7 86664383 missense probably damaging 1.00
R2059:Olfr293 UTSW 7 86664383 missense probably damaging 1.00
R2105:Olfr293 UTSW 7 86664383 missense probably damaging 1.00
R4166:Olfr293 UTSW 7 86664394 missense probably damaging 1.00
R4303:Olfr293 UTSW 7 86663955 missense probably benign 0.16
R4531:Olfr293 UTSW 7 86664271 missense probably benign 0.02
R4808:Olfr293 UTSW 7 86663938 missense probably benign 0.00
R5748:Olfr293 UTSW 7 86664085 missense possibly damaging 0.61
R5937:Olfr293 UTSW 7 86664476 missense probably benign 0.00
R6178:Olfr293 UTSW 7 86664611 missense probably benign 0.45
R6766:Olfr293 UTSW 7 86664085 missense probably damaging 0.98
R7315:Olfr293 UTSW 7 86664237 missense probably damaging 0.99
R7585:Olfr293 UTSW 7 86664672 makesense probably null
Predicted Primers PCR Primer
(F):5'- TGCTCTGACACCTTTAACAACAAACTCT -3'
(R):5'- TGTCTGTGTGCCTCTGTTTTGCATAA -3'

Sequencing Primer
(F):5'- TGACTGCCATTGGTCTCAG -3'
(R):5'- CCTCTTGAAAACTCTGACAAGTACT -3'
Posted On2013-04-16