Incidental Mutation 'IGL02064:Or51a39'
ID 185545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51a39
Ensembl Gene ENSMUSG00000066273
Gene Name olfactory receptor family 51 subfamily A member 39
Synonyms MTPCR33, MOR11-2, GA_x6K02T2PBJ9-5431102-5430146, Olfr33
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # IGL02064
Quality Score
Status
Chromosome 7
Chromosomal Location 102362662-102363618 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102362808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 271 (F271L)
Ref Sequence ENSEMBL: ENSMUSP00000149588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]
AlphaFold Q8VGX7
Predicted Effect probably damaging
Transcript: ENSMUST00000084817
AA Change: F271L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273
AA Change: F271L

DomainStartEndE-ValueType
Pfam:7tm_4 37 317 2.1e-117 PFAM
Pfam:7TM_GPCR_Srsx 41 211 7.5e-11 PFAM
Pfam:7tm_1 47 299 2.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094124
SMART Domains Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.2e-117 PFAM
Pfam:7TM_GPCR_Srsx 37 308 2.4e-7 PFAM
Pfam:7tm_1 43 293 2.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210002
Predicted Effect probably damaging
Transcript: ENSMUST00000216312
AA Change: F271L

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Or51a39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02349:Or51a39 APN 7 102,363,333 (GRCm39) missense probably damaging 0.99
IGL02739:Or51a39 APN 7 102,363,521 (GRCm39) missense possibly damaging 0.58
IGL03110:Or51a39 APN 7 102,363,090 (GRCm39) missense probably damaging 1.00
IGL03014:Or51a39 UTSW 7 102,362,753 (GRCm39) missense probably null 0.91
R0158:Or51a39 UTSW 7 102,363,162 (GRCm39) missense probably benign 0.03
R1455:Or51a39 UTSW 7 102,363,205 (GRCm39) nonsense probably null
R1996:Or51a39 UTSW 7 102,362,999 (GRCm39) missense probably damaging 1.00
R2032:Or51a39 UTSW 7 102,363,083 (GRCm39) missense probably benign 0.00
R2152:Or51a39 UTSW 7 102,362,788 (GRCm39) missense probably benign 0.01
R4852:Or51a39 UTSW 7 102,362,750 (GRCm39) missense probably damaging 0.99
R4965:Or51a39 UTSW 7 102,362,702 (GRCm39) missense probably damaging 1.00
R5264:Or51a39 UTSW 7 102,363,558 (GRCm39) missense probably benign 0.00
R5464:Or51a39 UTSW 7 102,362,889 (GRCm39) missense probably benign
R6680:Or51a39 UTSW 7 102,363,522 (GRCm39) missense possibly damaging 0.70
R7195:Or51a39 UTSW 7 102,362,873 (GRCm39) missense possibly damaging 0.74
R7373:Or51a39 UTSW 7 102,363,306 (GRCm39) missense possibly damaging 0.53
R7391:Or51a39 UTSW 7 102,363,189 (GRCm39) missense probably benign 0.02
R7872:Or51a39 UTSW 7 102,363,389 (GRCm39) missense probably benign 0.01
R7948:Or51a39 UTSW 7 102,362,895 (GRCm39) missense probably benign 0.00
R8097:Or51a39 UTSW 7 102,363,197 (GRCm39) missense possibly damaging 0.53
R8969:Or51a39 UTSW 7 102,363,558 (GRCm39) missense probably benign 0.00
R9349:Or51a39 UTSW 7 102,362,875 (GRCm39) nonsense probably null
R9589:Or51a39 UTSW 7 102,363,372 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07