Incidental Mutation 'IGL01511:Olfr1387'
ID 89206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1387
Ensembl Gene ENSMUSG00000063386
Gene Name olfactory receptor 1387
Synonyms MOR256-22, GA_x6K02T2QP88-5975166-5974231
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01511
Quality Score
Status
Chromosome 11
Chromosomal Location 49455343-49464001 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49460216 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 179 (E179G)
Ref Sequence ENSEMBL: ENSMUSP00000073494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073824] [ENSMUST00000204518] [ENSMUST00000213674] [ENSMUST00000214541]
AlphaFold Q8VFA9
Predicted Effect probably damaging
Transcript: ENSMUST00000073824
AA Change: E179G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073494
Gene: ENSMUSG00000063386
AA Change: E179G

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1e-49 PFAM
Pfam:7tm_1 41 289 5.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204518
SMART Domains Protein: ENSMUSP00000145320
Gene: ENSMUSG00000108167

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 227 1.2e-5 PFAM
Pfam:7tm_1 41 289 7.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213674
Predicted Effect probably damaging
Transcript: ENSMUST00000214541
AA Change: E179G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 D216E probably benign Het
Abcc4 C A 14: 118,599,341 L669F probably benign Het
Adam29 C T 8: 55,871,421 G666D probably damaging Het
Adat2 T G 10: 13,560,238 M109R probably null Het
Atf3 T A 1: 191,171,496 T178S probably benign Het
Birc6 T A 17: 74,627,003 Y2522* probably null Het
Ccr8 G A 9: 120,094,625 G269R probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chrna4 C T 2: 181,028,668 V432I probably benign Het
Commd8 A G 5: 72,165,379 V65A probably benign Het
Cyp2j13 A G 4: 96,077,315 F52L possibly damaging Het
Desi1 T A 15: 82,002,588 K45* probably null Het
Dmbt1 T A 7: 131,116,728 M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 L3795V probably damaging Het
Fam221b T C 4: 43,660,135 probably null Het
Fbxw18 A T 9: 109,688,821 S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 Y125C unknown Het
Gcsam T C 16: 45,615,952 Y11H probably damaging Het
Gucy2f G T X: 142,161,734 D410E probably damaging Het
Hdac3 C T 18: 37,952,595 A53T probably benign Het
Lamp2 A G X: 38,431,875 L244P probably damaging Het
Lrrk1 A T 7: 66,265,450 F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 D434E probably benign Het
Mcmbp A G 7: 128,707,164 Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 W2063G probably damaging Het
Neto1 A C 18: 86,395,908 H9P possibly damaging Het
Nmu C T 5: 76,340,821 V126M probably damaging Het
Odf2 T C 2: 29,914,309 probably benign Het
Pdzrn3 T C 6: 101,153,256 H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 E1586* probably null Het
Plcb3 C A 19: 6,955,843 R970L probably damaging Het
Plxna3 A G X: 74,335,308 E686G probably damaging Het
Polrmt T A 10: 79,740,151 Y586F probably benign Het
Ppt1 T A 4: 122,854,425 F225I probably damaging Het
Prcc T G 3: 87,872,241 D162A probably damaging Het
Ripor1 T C 8: 105,619,930 probably benign Het
Rnaseh1 A G 12: 28,659,009 H263R probably damaging Het
Rnf19b T A 4: 129,080,418 S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 probably null Het
Slc35f4 T C 14: 49,298,877 M434V probably benign Het
Slc52a3 C T 2: 152,004,644 T175I probably benign Het
Slc5a2 C T 7: 128,270,622 T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 S108P probably benign Het
Thnsl2 T G 6: 71,139,793 Q125P probably benign Het
Ttc13 T C 8: 124,676,371 D672G probably damaging Het
Ttn G T 2: 76,753,745 H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 F792L probably damaging Het
Vac14 T C 8: 110,712,798 V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 V104D probably damaging Het
Wdr78 T C 4: 103,048,361 D741G possibly damaging Het
Zfp738 A T 13: 67,683,401 probably null Het
Zscan5b A C 7: 6,231,422 H149P probably benign Het
Other mutations in Olfr1387
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Olfr1387 APN 11 49460443 missense probably benign 0.05
IGL02322:Olfr1387 APN 11 49459957 missense probably benign 0.12
R1028:Olfr1387 UTSW 11 49460220 missense probably benign 0.03
R2173:Olfr1387 UTSW 11 49460140 missense probably benign 0.00
R3894:Olfr1387 UTSW 11 49459939 missense possibly damaging 0.60
R5860:Olfr1387 UTSW 11 49459736 missense probably damaging 1.00
R6279:Olfr1387 UTSW 11 49460212 missense probably damaging 1.00
R6300:Olfr1387 UTSW 11 49460212 missense probably damaging 1.00
R6621:Olfr1387 UTSW 11 49459771 missense probably benign 0.09
R6836:Olfr1387 UTSW 11 49460077 missense possibly damaging 0.90
R6888:Olfr1387 UTSW 11 49460260 missense probably damaging 0.97
R9238:Olfr1387 UTSW 11 49459702 missense probably benign
R9687:Olfr1387 UTSW 11 49459691 missense probably benign 0.03
Z1088:Olfr1387 UTSW 11 49460456 missense probably damaging 1.00
Posted On 2013-12-03