Incidental Mutation 'IGL03255:Olfr290'
ID414614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr290
Ensembl Gene ENSMUSG00000116179
Gene Name
SynonymsGA_x6K02T2NHDJ-11170115-11169168, MOR254-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL03255
Quality Score
Status
Chromosome7
Chromosomal Location84915781-84916728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84916517 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 246 (L246P)
Ref Sequence ENSEMBL: ENSMUSP00000149523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073468] [ENSMUST00000214501] [ENSMUST00000216184] [ENSMUST00000216367]
Predicted Effect possibly damaging
Transcript: ENSMUST00000073468
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: L246P

DomainStartEndE-ValueType
Pfam:7tm_4 31 309 8.4e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 304 1.2e-10 PFAM
Pfam:7tm_1 41 291 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173463
Predicted Effect possibly damaging
Transcript: ENSMUST00000214501
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216184
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216367
AA Change: L246P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,969,351 noncoding transcript Het
Alpk3 A G 7: 81,092,562 D709G probably benign Het
AY761184 T C 8: 21,703,518 T29A possibly damaging Het
Capn3 G T 2: 120,489,708 R309L probably damaging Het
Card11 T C 5: 140,898,331 I398V possibly damaging Het
Cps1 T A 1: 67,145,801 Y162* probably null Het
Defa26 A T 8: 21,618,241 D20V probably damaging Het
Dnah8 T G 17: 30,741,381 L2244R probably damaging Het
Fhad1 T A 4: 141,972,880 N353I possibly damaging Het
Flt1 T A 5: 147,588,521 probably benign Het
Glyr1 G A 16: 5,048,757 probably null Het
Gm10220 A G 5: 26,116,901 S258P possibly damaging Het
Lama3 A T 18: 12,539,703 D845V probably damaging Het
Myh2 T A 11: 67,193,225 L1558Q probably damaging Het
Nelfb G T 2: 25,203,195 H482N probably benign Het
Olfr482 A G 7: 108,094,817 V251A probably damaging Het
Ppfia2 A G 10: 106,896,507 T972A possibly damaging Het
Slc5a4a G A 10: 76,150,512 V85M probably damaging Het
Slc6a12 T G 6: 121,354,287 C166G probably damaging Het
Tm7sf3 T C 6: 146,606,120 probably benign Het
Tmem94 G T 11: 115,792,068 probably benign Het
Tmod2 T C 9: 75,577,258 probably benign Het
Tmprss11c T A 5: 86,271,482 I73F probably damaging Het
Vmn1r10 A G 6: 57,113,926 M168V probably benign Het
Vmn2r77 T A 7: 86,811,923 M819K probably benign Het
Vmo1 C T 11: 70,514,410 probably null Het
Ywhab A G 2: 164,014,016 D104G probably benign Het
Other mutations in Olfr290
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Olfr290 APN 7 84916370 missense probably damaging 0.99
IGL01322:Olfr290 APN 7 84916382 missense probably damaging 0.99
IGL01834:Olfr290 APN 7 84916652 missense probably damaging 1.00
IGL02556:Olfr290 APN 7 84916359 nonsense probably null
IGL03246:Olfr290 APN 7 84916711 missense probably benign 0.03
R0322:Olfr290 UTSW 7 84916313 missense probably damaging 1.00
R1253:Olfr290 UTSW 7 84916709 missense probably benign
R1652:Olfr290 UTSW 7 84916520 missense probably damaging 1.00
R1673:Olfr290 UTSW 7 84916117 missense probably damaging 0.97
R1891:Olfr290 UTSW 7 84916253 missense possibly damaging 0.93
R1895:Olfr290 UTSW 7 84916279 missense probably benign 0.01
R1946:Olfr290 UTSW 7 84916279 missense probably benign 0.01
R2128:Olfr290 UTSW 7 84916493 missense probably damaging 1.00
R4435:Olfr290 UTSW 7 84916021 missense probably benign 0.45
R4822:Olfr290 UTSW 7 84916426 missense possibly damaging 0.81
R4834:Olfr290 UTSW 7 84916283 missense probably damaging 1.00
R5354:Olfr290 UTSW 7 84916149 nonsense probably null
R5644:Olfr290 UTSW 7 84916119 missense probably benign 0.15
R5650:Olfr290 UTSW 7 84916418 missense possibly damaging 0.50
R5708:Olfr290 UTSW 7 84916183 missense possibly damaging 0.56
R6585:Olfr290 UTSW 7 84916462 missense probably damaging 0.99
R7774:Olfr290 UTSW 7 84916531 missense probably damaging 0.97
R8126:Olfr290 UTSW 7 84915906 missense probably damaging 1.00
R8443:Olfr290 UTSW 7 84916579 missense probably benign 0.00
Posted On2016-08-02