Incidental Mutation 'IGL00088:Olfr290'
ID1476
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: 0.187) question?
Stock #IGL00088
Quality Score
Status
Chromosome7
Chromosomal Location84915781-84916728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84916370 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 197 (M197K)
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: M197K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: M197K

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: M197K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216184
AA Change: M197K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216367
AA Change: M197K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Ankhd1 A G 18: 36,665,459 probably benign Het
Anpep A G 7: 79,825,736 V879A possibly damaging Het
Asb13 T G 13: 3,643,476 V78G probably null Het
Atad2b A G 12: 5,024,593 R1051G probably damaging Het
Bdp1 T C 13: 100,098,510 Y192C probably damaging Het
C1ql2 G T 1: 120,341,670 G185C probably damaging Het
C87499 T A 4: 88,629,070 K121N probably benign Het
Catsperg2 A G 7: 29,705,404 S745P possibly damaging Het
Col19a1 A T 1: 24,561,306 S52T unknown Het
Col4a2 G T 8: 11,443,685 G1418V probably damaging Het
Crnkl1 C T 2: 145,918,468 D677N possibly damaging Het
Cyp2j8 T A 4: 96,503,842 N125I probably benign Het
Cyp2t4 A T 7: 27,155,298 M68L probably benign Het
Dclk2 T A 3: 86,799,090 probably null Het
Dmxl2 T C 9: 54,401,704 D1921G probably benign Het
Dnah10 G A 5: 124,828,603 G4104S probably damaging Het
Echdc2 T C 4: 108,178,911 I273T probably damaging Het
Extl1 T C 4: 134,358,019 K596E probably damaging Het
Fads3 A T 19: 10,052,299 D108V probably null Het
Fam135b A G 15: 71,450,494 L1274P probably damaging Het
Fat1 T A 8: 45,024,602 H2228Q possibly damaging Het
Gcc2 C T 10: 58,292,680 H1341Y probably damaging Het
Gls2 A G 10: 128,200,971 probably null Het
Gm13119 T A 4: 144,362,530 H139Q possibly damaging Het
Gpr137 A C 19: 6,939,704 V139G probably damaging Het
Ikbke A G 1: 131,270,012 probably null Het
Irak2 A T 6: 113,678,675 N285Y probably benign Het
Kcnu1 G A 8: 25,897,856 C566Y probably benign Het
Klhl29 G A 12: 5,140,705 P97S probably benign Het
Lama4 T C 10: 39,065,595 probably benign Het
Lhx6 G A 2: 36,091,716 probably benign Het
Mdn1 T C 4: 32,723,651 L2529P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Naa15 T A 3: 51,438,405 V19D probably damaging Het
Ncbp3 A T 11: 73,073,529 probably benign Het
Nckipsd G A 9: 108,814,969 V530I probably benign Het
Neb A G 2: 52,308,747 I394T possibly damaging Het
Nnmt A T 9: 48,591,924 probably benign Het
Nupl1 T A 14: 60,242,577 I207L probably benign Het
Olfr113 A T 17: 37,574,917 C169S probably damaging Het
Olfr180 C T 16: 58,915,850 E264K probably benign Het
Otud4 T A 8: 79,672,881 N741K probably damaging Het
Pard6a T A 8: 105,703,201 C264S probably benign Het
Plch2 T C 4: 155,006,642 N276S probably damaging Het
Racgap1 T C 15: 99,636,122 probably benign Het
Rad51d T C 11: 82,889,746 D70G probably damaging Het
Recql4 C T 15: 76,707,336 A484T possibly damaging Het
Reg3g A T 6: 78,466,779 S149T probably benign Het
Rpl13a C A 7: 45,127,071 probably null Het
Scn10a T C 9: 119,672,226 Y164C probably damaging Het
Scn2a A G 2: 65,764,440 I1878V probably benign Het
Sgcg T A 14: 61,240,347 R98* probably null Het
Tas2r137 A T 6: 40,491,340 I35F probably benign Het
Tex19.2 A G 11: 121,116,812 F270S possibly damaging Het
Traip C T 9: 107,970,550 R391W probably benign Het
Trim7 A G 11: 48,845,571 N251D probably damaging Het
Trmt2a T A 16: 18,249,487 V8D probably benign Het
Ubr3 A C 2: 69,988,810 I9L probably benign Het
Usp42 A G 5: 143,717,142 S575P probably benign Het
Vmn2r52 G T 7: 10,169,096 H468Q probably benign Het
Vmn2r59 T A 7: 42,012,064 T776S possibly damaging Het
Zcchc6 T C 13: 59,816,698 E221G probably damaging Het
Other mutations in Olfr290
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2011-07-12