Incidental Mutation 'IGL02648:Olfr1270'
ID302017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1270
Ensembl Gene ENSMUSG00000075065
Gene Nameolfactory receptor 1270
SynonymsMOR227-1, GA_x6K02T2Q125-51584440-51583526
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL02648
Quality Score
Status
Chromosome2
Chromosomal Location90145255-90153091 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 90149353 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 218 (I218F)
Ref Sequence ENSEMBL: ENSMUSP00000150561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099754] [ENSMUST00000213946] [ENSMUST00000215578] [ENSMUST00000215975] [ENSMUST00000216354] [ENSMUST00000217139]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099754
AA Change: I218F

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097343
Gene: ENSMUSG00000075065
AA Change: I218F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.3e-54 PFAM
Pfam:7TM_GPCR_Srsx 33 300 7.5e-6 PFAM
Pfam:7tm_1 39 285 2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165784
SMART Domains Protein: ENSMUSP00000126140
Gene: ENSMUSG00000091703

DomainStartEndE-ValueType
HOX 19 81 1.29e-3 SMART
low complexity region 118 128 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000213946
AA Change: I218F

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215578
AA Change: I218F

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215975
AA Change: I218F

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216354
AA Change: I218F

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217139
AA Change: I218F

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,617,822 probably null Het
Acp4 A G 7: 44,254,990 probably benign Het
Adgrv1 A T 13: 81,511,619 M1997K probably benign Het
Arhgdib T C 6: 136,933,649 D38G probably damaging Het
Bbox1 T G 2: 110,305,526 D36A probably damaging Het
Cacna1c T C 6: 118,757,496 K104R probably damaging Het
Cacna1i G A 15: 80,298,638 C75Y probably damaging Het
Ccdc14 T C 16: 34,697,158 L70S probably damaging Het
Ccdc88a T G 11: 29,501,051 V1580G probably benign Het
Cdadc1 C A 14: 59,586,363 D227Y probably damaging Het
Chd3 T C 11: 69,352,150 Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 N493S probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Gm10549 C A 18: 33,464,250 probably benign Het
Gm17677 A T 9: 35,741,109 M21L probably benign Het
Greb1 C T 12: 16,708,682 V678M probably damaging Het
Gucy2c G A 6: 136,729,213 R497* probably null Het
Itgad T C 7: 128,183,374 probably benign Het
Lgr4 C A 2: 110,012,373 T877K probably damaging Het
Lrig3 A G 10: 125,966,594 D40G probably benign Het
Myo3b T C 2: 70,105,372 probably benign Het
Neb A G 2: 52,271,081 Y2193H possibly damaging Het
Olfr918 T C 9: 38,673,016 M143V probably benign Het
Pard6b A G 2: 168,098,927 Q278R probably benign Het
Pkd2l1 T C 19: 44,155,536 Y366C possibly damaging Het
Prl2c1 A G 13: 27,857,559 D188G probably benign Het
Prl3a1 G T 13: 27,270,235 M65I probably benign Het
Psg26 T A 7: 18,482,766 E49D probably benign Het
Rapgef3 G A 15: 97,758,392 R38W probably damaging Het
Rrn3 T C 16: 13,811,589 F590L probably benign Het
Serpina12 T C 12: 104,038,008 K122E probably benign Het
Slc39a6 T C 18: 24,582,367 I699V probably damaging Het
Tmem259 G A 10: 79,977,817 P443S probably damaging Het
Vmn1r75 T A 7: 11,881,164 F274L probably benign Het
Other mutations in Olfr1270
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Olfr1270 APN 2 90149833 missense probably damaging 1.00
R0726:Olfr1270 UTSW 2 90149283 missense probably damaging 1.00
R1573:Olfr1270 UTSW 2 90148724 utr 3 prime probably benign
R1965:Olfr1270 UTSW 2 90149404 missense probably damaging 0.98
R1966:Olfr1270 UTSW 2 90149404 missense probably damaging 0.98
R2353:Olfr1270 UTSW 2 90149718 missense probably damaging 0.98
R3805:Olfr1270 UTSW 2 90148461 utr 3 prime probably benign
R4606:Olfr1270 UTSW 2 90148816 utr 3 prime probably benign
R4662:Olfr1270 UTSW 2 90149878 missense probably damaging 1.00
R6198:Olfr1270 UTSW 2 90149438 missense probably damaging 1.00
R6596:Olfr1270 UTSW 2 90149278 missense possibly damaging 0.73
R6957:Olfr1270 UTSW 2 90149150 nonsense probably null
R7408:Olfr1270 UTSW 2 90149844 missense probably benign
R7418:Olfr1270 UTSW 2 90149487 missense probably damaging 1.00
R7454:Olfr1270 UTSW 2 90149419 missense possibly damaging 0.78
Posted On2015-04-16