Incidental Mutation 'IGL03246:Olfr290'
ID414399
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 #IGL03246
Quality Score
Status
Chromosome7
Chromosomal Location84915781-84916728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84916711 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 311 (C311R)
Ref Sequence ENSEMBL: ENSMUSP00000149523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073468] [ENSMUST00000214501] [ENSMUST00000216184] [ENSMUST00000216367]
Predicted Effect probably benign
Transcript: ENSMUST00000073468
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073172
Gene: ENSMUSG00000116179
AA Change: C311R

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 benign
Transcript: ENSMUST00000214501
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000216184
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000216367
AA Change: C311R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,615 H392Q probably benign Het
Alox8 T A 11: 69,186,015 I547L probably damaging Het
Capn13 T C 17: 73,382,860 H52R probably benign Het
Cfap57 T A 4: 118,576,645 I979L probably benign Het
Ctdnep1 T C 11: 69,984,330 probably benign Het
Ercc5 C A 1: 44,167,081 P385T probably damaging Het
Fam98a C T 17: 75,538,853 M299I probably damaging Het
Flcn A T 11: 59,794,110 I505N possibly damaging Het
Fn1 G A 1: 71,624,296 T1011I possibly damaging Het
Gm12355 T A 11: 98,625,293 R85* probably null Het
Gm44 C A X: 90,892,402 H87Q probably benign Het
Klhl28 T C 12: 64,957,286 D151G probably benign Het
Klk13 T A 7: 43,720,998 N28K probably damaging Het
Macc1 T C 12: 119,446,685 V396A probably benign Het
Magi2 T A 5: 20,358,950 I360K probably damaging Het
Myh7b T C 2: 155,617,872 I251T probably damaging Het
Naalad2 A T 9: 18,385,099 I85K possibly damaging Het
Pbrm1 A T 14: 31,110,549 M1490L probably benign Het
Pclo C T 5: 14,677,617 probably benign Het
Pdcd6ip T C 9: 113,678,417 K357R possibly damaging Het
Pnpla6 C T 8: 3,531,530 T601I probably benign Het
Pof1b A T X: 112,648,120 N366K probably benign Het
Prr9 A G 3: 92,122,979 probably benign Het
Ptprz1 G T 6: 22,986,160 A320S probably damaging Het
Ripor1 A G 8: 105,615,858 Y187C possibly damaging Het
Rnf13 A G 3: 57,769,050 E42G probably damaging Het
Sdf4 T C 4: 156,000,697 V163A probably benign Het
Smc2 C T 4: 52,440,301 Q16* probably null Het
Tbck T A 3: 132,774,570 C737S probably benign Het
Tra2a A T 6: 49,249,085 Y140* probably null Het
Vcpip1 A C 1: 9,745,957 L734V probably benign Het
Vmn1r87 G A 7: 13,132,361 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
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
R8443:Olfr290 UTSW 7 84916579 missense probably benign 0.00
Posted On2016-08-02