Incidental Mutation 'IGL01154:Olfr1265'
ID50660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1265
Ensembl Gene ENSMUSG00000059910
Gene Nameolfactory receptor 1265
SynonymsGA_x6K02T2Q125-51469027-51469956, MOR228-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01154
Quality Score
Status
Chromosome2
Chromosomal Location90035337-90042214 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90037468 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 183 (L183P)
Ref Sequence ENSEMBL: ENSMUSP00000149684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080311] [ENSMUST00000214855]
Predicted Effect probably damaging
Transcript: ENSMUST00000080311
AA Change: L183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079190
Gene: ENSMUSG00000059910
AA Change: L183P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.9e-49 PFAM
Pfam:7tm_1 39 285 1.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214855
AA Change: L183P

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Bpifa1 T A 2: 154,144,000 D78E probably benign Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Grm4 A T 17: 27,434,737 C699* probably null Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Irf4 T A 13: 30,757,421 H253Q possibly damaging Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Otud6b A T 4: 14,811,732 Y304N probably damaging Het
Pdcd10 A C 3: 75,541,233 M8R probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 K117* probably null Het
Tram1 C T 1: 13,579,449 probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Olfr1265
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Olfr1265 APN 2 90037818 missense possibly damaging 0.81
IGL01878:Olfr1265 APN 2 90037134 missense probably damaging 0.97
IGL02716:Olfr1265 APN 2 90037794 missense probably benign 0.05
IGL03066:Olfr1265 APN 2 90037434 missense probably damaging 0.99
R1310:Olfr1265 UTSW 2 90037703 missense probably benign 0.02
R4986:Olfr1265 UTSW 2 90037428 missense probably damaging 1.00
R5101:Olfr1265 UTSW 2 90037047 missense probably benign 0.00
R6149:Olfr1265 UTSW 2 90037516 missense probably benign 0.01
R6400:Olfr1265 UTSW 2 90037395 missense probably benign 0.00
R7367:Olfr1265 UTSW 2 90037812 missense probably benign 0.02
R7432:Olfr1265 UTSW 2 90037184 missense probably damaging 0.99
X0019:Olfr1265 UTSW 2 90037644 missense probably benign 0.02
Posted On2013-06-21