Incidental Mutation 'IGL01599:Olfr460'
ID 92029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr460
Ensembl Gene ENSMUSG00000045514
Gene Name olfactory receptor 460
Synonyms GA_x6K02T2P3E9-6947292-6946348, MOR120-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # IGL01599
Quality Score
Status
Chromosome 6
Chromosomal Location 40569487-40574343 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40572252 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 289 (I289L)
Ref Sequence ENSEMBL: ENSMUSP00000151187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051540] [ENSMUST00000101491] [ENSMUST00000216942]
AlphaFold Q8VF31
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031975
Predicted Effect probably damaging
Transcript: ENSMUST00000051540
AA Change: I289L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054887
Gene: ENSMUSG00000045514
AA Change: I289L

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 3e-44 PFAM
Pfam:7TM_GPCR_Srsx 34 296 3e-5 PFAM
Pfam:7tm_1 40 290 2.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101491
SMART Domains Protein: ENSMUSP00000099030
Gene: ENSMUSG00000029915

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 161 3.83e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000216942
AA Change: I289L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,214,134 V105A probably benign Het
Acr T C 15: 89,568,414 V18A probably benign Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Aldh16a1 A G 7: 45,142,093 F753L probably damaging Het
Ankfy1 T A 11: 72,738,365 Y338N probably benign Het
Aox3 C T 1: 58,169,794 R829C probably damaging Het
Arhgef11 T C 3: 87,737,046 S1535P probably benign Het
C4b A G 17: 34,743,019 probably benign Het
Ccdc157 A G 11: 4,148,781 C242R probably damaging Het
Cep135 T A 5: 76,593,347 M90K possibly damaging Het
Cfap36 A T 11: 29,244,057 probably null Het
Chl1 A G 6: 103,708,484 T829A probably benign Het
Copb2 T C 9: 98,581,150 S473P probably damaging Het
Cpb1 C T 3: 20,251,954 probably null Het
Cpsf1 A G 15: 76,596,541 L1295P probably damaging Het
Dmp1 C T 5: 104,212,462 Q335* probably null Het
Dyrk1a T A 16: 94,691,884 S621T possibly damaging Het
Exoc5 T A 14: 49,034,964 Q331L probably benign Het
Fmnl1 G A 11: 103,186,656 V287M probably damaging Het
Fras1 T C 5: 96,709,891 S2015P possibly damaging Het
Gm7052 T C 17: 22,040,004 probably benign Het
Gprc5c A G 11: 114,864,252 I252V probably benign Het
Ints3 C T 3: 90,394,322 probably null Het
L1td1 A G 4: 98,737,344 D592G probably damaging Het
Lamb3 A G 1: 193,343,412 M1137V probably benign Het
Leng8 C A 7: 4,145,482 A751E probably benign Het
Lfng T C 5: 140,612,535 V204A probably damaging Het
Lsm14b A G 2: 180,032,603 D233G probably damaging Het
Map4 C T 9: 110,034,768 P354S probably benign Het
Mapt G A 11: 104,294,915 V53M probably damaging Het
Mier1 T G 4: 103,155,541 S377A possibly damaging Het
Neurog1 T C 13: 56,251,847 D29G probably damaging Het
Npr3 G A 15: 11,895,789 A257V probably damaging Het
Nup188 T C 2: 30,327,525 V824A possibly damaging Het
Olfm4 T C 14: 80,021,310 S333P probably damaging Het
Olfr849 T G 9: 19,441,815 F301V probably benign Het
Pbxip1 C A 3: 89,443,590 probably benign Het
Pde9a G T 17: 31,414,150 C38F probably damaging Het
Plb1 A T 5: 32,342,544 probably benign Het
Plcz1 T C 6: 140,002,256 probably benign Het
Plxnb1 T C 9: 109,110,604 V1447A probably damaging Het
Pnldc1 A T 17: 12,906,528 M73K probably benign Het
Psg20 C T 7: 18,681,038 V311M possibly damaging Het
Psmd2 G T 16: 20,659,405 probably null Het
Rabgap1 T C 2: 37,556,269 V859A probably damaging Het
Rad51b T A 12: 79,327,228 S194T probably benign Het
Rb1cc1 C T 1: 6,248,771 Q788* probably null Het
Ror2 C T 13: 53,111,617 G468R probably damaging Het
Slamf7 A G 1: 171,641,186 I46T possibly damaging Het
Stab2 A G 10: 86,922,895 S1060P probably damaging Het
Syndig1 T A 2: 150,003,283 V242E probably damaging Het
Tgfbr3 G A 5: 107,118,451 T801M probably damaging Het
Tmem132c T C 5: 127,359,552 probably benign Het
Trav21-dv12 T C 14: 53,876,731 Y103H probably damaging Het
Ubr3 T C 2: 69,938,178 V443A probably damaging Het
Uhrf2 G T 19: 30,092,120 C749F probably damaging Het
Ulk2 G T 11: 61,791,436 S751* probably null Het
Wrn G A 8: 33,241,011 P1098S possibly damaging Het
Xrcc5 T C 1: 72,346,349 V533A possibly damaging Het
Zc3h13 T C 14: 75,309,723 S223P probably damaging Het
Zcchc11 T C 4: 108,513,399 S871P possibly damaging Het
Other mutations in Olfr460
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Olfr460 APN 6 40571454 missense probably benign 0.01
IGL02168:Olfr460 APN 6 40571383 utr 5 prime probably benign
PIT4280001:Olfr460 UTSW 6 40571716 missense probably damaging 0.98
R0964:Olfr460 UTSW 6 40572205 missense probably benign 0.06
R1446:Olfr460 UTSW 6 40571899 missense probably benign 0.06
R2925:Olfr460 UTSW 6 40571408 missense probably benign 0.00
R4295:Olfr460 UTSW 6 40572156 missense probably damaging 1.00
R4382:Olfr460 UTSW 6 40572064 missense probably damaging 1.00
R7432:Olfr460 UTSW 6 40572306 missense probably benign 0.01
R7980:Olfr460 UTSW 6 40572220 missense probably benign 0.00
R8338:Olfr460 UTSW 6 40571976 missense probably benign 0.00
R8953:Olfr460 UTSW 6 40571742 missense possibly damaging 0.89
R9080:Olfr460 UTSW 6 40571629 missense probably damaging 1.00
R9417:Olfr460 UTSW 6 40572162 missense
R9675:Olfr460 UTSW 6 40571625 missense possibly damaging 0.79
Posted On 2013-12-09