Incidental Mutation 'IGL02391:Or12d17'
ID 293846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or12d17
Ensembl Gene ENSMUSG00000029184
Gene Name olfactory receptor family 12 subfamily D member 17
Synonyms GA_x6K02T2PSCP-1914078-1915022, Olfr109, MOR250-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02391
Quality Score
Status
Chromosome 17
Chromosomal Location 37777099-37778043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37777477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 127 (P127S)
Ref Sequence ENSEMBL: ENSMUSP00000150044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031086] [ENSMUST00000214668] [ENSMUST00000214938] [ENSMUST00000217602]
AlphaFold Q8VG96
Predicted Effect probably damaging
Transcript: ENSMUST00000031086
AA Change: P127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: P127S

DomainStartEndE-ValueType
Pfam:7tm_4 29 309 3.4e-54 PFAM
Pfam:7tm_1 39 291 6.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214668
AA Change: P127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214938
AA Change: P127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217602
AA Change: P127S

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,790,764 (GRCm39) N748Y probably damaging Het
Actbl2 A G 13: 111,391,701 (GRCm39) D12G possibly damaging Het
Adamts10 T C 17: 33,747,785 (GRCm39) S74P probably benign Het
Adprs C T 4: 126,211,701 (GRCm39) probably benign Het
Amn1 A G 6: 149,070,944 (GRCm39) probably null Het
Antxr1 A T 6: 87,264,038 (GRCm39) I144N probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cabp5 A T 7: 13,132,269 (GRCm39) R13* probably null Het
Cacna1e A G 1: 154,296,859 (GRCm39) Y1669H probably damaging Het
Ccdc174 A G 6: 91,875,263 (GRCm39) E364G possibly damaging Het
Ccdc18 C T 5: 108,283,918 (GRCm39) P74S probably damaging Het
Clec3a C T 8: 115,152,240 (GRCm39) S82L probably benign Het
Cnih3 A G 1: 181,234,078 (GRCm39) D43G probably damaging Het
Dpp10 G A 1: 123,578,087 (GRCm39) T128M probably damaging Het
Edar A T 10: 58,464,403 (GRCm39) F79I probably damaging Het
Eif2ak4 T A 2: 118,251,272 (GRCm39) H199Q probably benign Het
Fermt1 A G 2: 132,783,871 (GRCm39) L46P probably damaging Het
Glipr1 A G 10: 111,824,799 (GRCm39) probably benign Het
Gsdmc T C 15: 63,675,428 (GRCm39) N129S probably damaging Het
Ift88 T C 14: 57,718,871 (GRCm39) S619P possibly damaging Het
Itga9 T A 9: 118,679,873 (GRCm39) V262E probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mta1 T A 12: 113,100,203 (GRCm39) I688N possibly damaging Het
Muc4 A T 16: 32,570,894 (GRCm39) R651S probably benign Het
Opcml A G 9: 28,586,560 (GRCm39) I93V probably damaging Het
Or13p4 A G 4: 118,547,538 (GRCm39) L37P probably damaging Het
Or9r7 A G 10: 129,962,773 (GRCm39) V51A possibly damaging Het
Parg T G 14: 31,984,638 (GRCm39) probably null Het
Rps3a3 A G 13: 108,807,417 (GRCm39) probably benign Het
Safb T A 17: 56,907,813 (GRCm39) probably benign Het
Sat2 G T 11: 69,513,575 (GRCm39) C54F probably damaging Het
Scin T A 12: 40,127,530 (GRCm39) Y420F probably benign Het
Slc22a29 A T 19: 8,146,717 (GRCm39) S362T probably benign Het
Smchd1 T C 17: 71,738,254 (GRCm39) D537G probably null Het
Spred3 A G 7: 28,865,830 (GRCm39) S126P probably benign Het
Ssh1 C T 5: 114,080,578 (GRCm39) E951K probably damaging Het
Ssmem1 A G 6: 30,512,441 (GRCm39) E28G possibly damaging Het
Stox1 A T 10: 62,495,455 (GRCm39) probably benign Het
Syn3 T C 10: 85,900,770 (GRCm39) I373V probably benign Het
Tecrl A T 5: 83,502,674 (GRCm39) F58L probably benign Het
Trp53bp1 T C 2: 121,033,191 (GRCm39) N1655S possibly damaging Het
Usp2 G T 9: 44,002,524 (GRCm39) Q147H probably damaging Het
Usp24 T A 4: 106,264,326 (GRCm39) N1751K possibly damaging Het
Wipf1 T A 2: 73,264,487 (GRCm39) D438V probably damaging Het
Other mutations in Or12d17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01813:Or12d17 APN 17 37,777,649 (GRCm39) missense probably damaging 1.00
IGL02039:Or12d17 APN 17 37,777,340 (GRCm39) missense possibly damaging 0.49
IGL02730:Or12d17 APN 17 37,777,750 (GRCm39) missense probably damaging 1.00
IGL02751:Or12d17 APN 17 37,777,306 (GRCm39) missense probably damaging 0.98
IGL02891:Or12d17 APN 17 37,777,835 (GRCm39) missense probably damaging 1.00
IGL03023:Or12d17 APN 17 37,777,885 (GRCm39) missense probably benign
IGL03343:Or12d17 APN 17 37,777,300 (GRCm39) missense probably damaging 1.00
R0026:Or12d17 UTSW 17 37,777,694 (GRCm39) missense probably damaging 0.99
R0579:Or12d17 UTSW 17 37,777,238 (GRCm39) missense probably benign 0.01
R1751:Or12d17 UTSW 17 37,777,792 (GRCm39) missense probably benign 0.00
R1848:Or12d17 UTSW 17 37,777,938 (GRCm39) missense probably damaging 0.99
R2392:Or12d17 UTSW 17 37,777,310 (GRCm39) missense probably damaging 1.00
R4249:Or12d17 UTSW 17 37,777,715 (GRCm39) missense probably damaging 0.98
R4464:Or12d17 UTSW 17 37,777,742 (GRCm39) missense probably damaging 1.00
R4857:Or12d17 UTSW 17 37,777,714 (GRCm39) missense possibly damaging 0.80
R4947:Or12d17 UTSW 17 37,777,634 (GRCm39) missense probably damaging 1.00
R5107:Or12d17 UTSW 17 37,777,144 (GRCm39) missense probably damaging 0.97
R5526:Or12d17 UTSW 17 37,778,003 (GRCm39) missense unknown
R6147:Or12d17 UTSW 17 37,777,430 (GRCm39) missense probably benign 0.00
R6416:Or12d17 UTSW 17 37,777,971 (GRCm39) nonsense probably null
R7450:Or12d17 UTSW 17 37,777,507 (GRCm39) missense probably benign 0.00
R7487:Or12d17 UTSW 17 37,777,457 (GRCm39) missense probably damaging 0.96
R7822:Or12d17 UTSW 17 37,777,994 (GRCm39) missense probably benign 0.00
R8041:Or12d17 UTSW 17 37,777,540 (GRCm39) missense probably benign
R8051:Or12d17 UTSW 17 37,777,213 (GRCm39) missense probably damaging 1.00
R9013:Or12d17 UTSW 17 37,777,441 (GRCm39) missense probably benign 0.13
X0063:Or12d17 UTSW 17 37,777,415 (GRCm39) missense probably damaging 1.00
X0065:Or12d17 UTSW 17 37,777,209 (GRCm39) missense probably damaging 1.00
Z1176:Or12d17 UTSW 17 37,777,552 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16