Incidental Mutation 'IGL01834:Olfr290'
ID154871
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 #IGL01834
Quality Score
Status
Chromosome7
Chromosomal Location84915781-84916728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84916652 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 291 (Y291C)
Ref Sequence ENSEMBL: ENSMUSP00000149523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073468] [ENSMUST00000214501] [ENSMUST00000216184] [ENSMUST00000216367]
Predicted Effect probably damaging
Transcript: ENSMUST00000073468
AA Change: Y291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: Y291C

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 probably damaging
Transcript: ENSMUST00000214501
AA Change: Y291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216184
AA Change: Y291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216367
AA Change: Y291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,309,024 I634V possibly damaging Het
Atp13a4 T G 16: 29,415,777 probably benign Het
BC049715 A T 6: 136,840,491 Q243L probably benign Het
C2cd6 G A 1: 58,997,445 probably benign Het
Cd2ap C T 17: 42,826,360 probably null Het
Cd2ap T A 17: 42,826,361 probably null Het
Cd86 G A 16: 36,607,119 R283W probably benign Het
CK137956 T A 4: 127,946,649 K421N probably damaging Het
Coro2b G A 9: 62,431,357 T193I possibly damaging Het
Dido1 G A 2: 180,684,031 probably benign Het
Fas A G 19: 34,318,603 T149A probably benign Het
Gbp4 T A 5: 105,125,602 I121F probably damaging Het
Hes3 C T 4: 152,287,100 A106T probably damaging Het
Hyal2 T C 9: 107,570,906 Y253H probably damaging Het
Kcnt1 T C 2: 25,912,719 probably null Het
Klhl12 C A 1: 134,489,420 R557S probably damaging Het
Kmt2c T C 5: 25,395,455 T315A probably benign Het
Mchr1 A G 15: 81,237,865 Y272C probably damaging Het
Mroh7 T C 4: 106,680,874 I1202V probably benign Het
Mrpl38 T A 11: 116,135,314 K87* probably null Het
Msh6 A G 17: 87,985,712 T632A probably damaging Het
Myo9b T C 8: 71,356,318 I1767T probably damaging Het
Myo9b C A 8: 71,355,257 H1630Q possibly damaging Het
Naprt A G 15: 75,893,799 F92S probably damaging Het
Nsd3 T A 8: 25,640,652 I11N probably damaging Het
Otof T C 5: 30,399,220 T306A probably damaging Het
Pcdh18 A G 3: 49,756,830 F12S probably benign Het
Pcdhb12 A T 18: 37,437,639 N613Y probably damaging Het
Polr1a T C 6: 71,948,462 I731T probably benign Het
Ptprd G A 4: 76,128,595 T465I probably damaging Het
Rabgap1 A G 2: 37,564,761 probably benign Het
Ryr2 T A 13: 11,595,425 I607L possibly damaging Het
Slc39a9 G A 12: 80,673,299 probably benign Het
Srek1 C A 13: 103,748,785 probably benign Het
Ssb A G 2: 69,870,803 T377A possibly damaging Het
Sympk G T 7: 19,043,435 A537S probably benign Het
Tcf20 A G 15: 82,855,697 S518P probably damaging Het
Ttc39d A G 17: 80,216,046 K45E probably benign Het
Vmn1r40 T C 6: 89,714,572 F124L possibly damaging Het
Vmn2r69 A G 7: 85,412,368 Y133H probably damaging Het
Vmn2r79 A T 7: 87,037,146 E578D probably benign Het
Vwf G A 6: 125,590,170 probably benign Het
Zbtb11 A G 16: 55,991,008 N510D 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
IGL02556:Olfr290 APN 7 84916359 nonsense probably null
IGL03246:Olfr290 APN 7 84916711 missense probably benign 0.03
IGL03255:Olfr290 APN 7 84916517 missense possibly damaging 0.95
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
Posted On2014-02-04