Incidental Mutation 'IGL01878:Olfr1265'
ID178953
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: 0.061) question?
Stock #IGL01878
Quality Score
Status
Chromosome2
Chromosomal Location90035337-90042214 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90037134 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 72 (S72P)
Ref Sequence ENSEMBL: ENSMUSP00000149684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080311] [ENSMUST00000214855]
Predicted Effect probably damaging
Transcript: ENSMUST00000080311
AA Change: S72P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079190
Gene: ENSMUSG00000059910
AA Change: S72P

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: S72P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Hs3st4 T G 7: 124,397,313 C401G probably damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Olfr1265
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Olfr1265 APN 2 90037468 missense probably damaging 1.00
IGL01470:Olfr1265 APN 2 90037818 missense possibly damaging 0.81
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
R7645:Olfr1265 UTSW 2 90037747 missense possibly damaging 0.90
R7849:Olfr1265 UTSW 2 90037282 missense probably damaging 1.00
R7932:Olfr1265 UTSW 2 90037282 missense probably damaging 1.00
X0019:Olfr1265 UTSW 2 90037644 missense probably benign 0.02
Posted On2014-05-07