Incidental Mutation 'IGL03095:Or12d2'
ID 418519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or12d2
Ensembl Gene ENSMUSG00000091531
Gene Name olfactory receptor family 12 subfamily D member 2
Synonyms Olfr102, MOR250-4, GA_x6K02T2PSCP-1775063-1774137
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL03095
Quality Score
Status
Chromosome 17
Chromosomal Location 37624302-37625328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37624664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 204 (I204F)
Ref Sequence ENSEMBL: ENSMUSP00000149168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169373] [ENSMUST00000217590]
AlphaFold B2RT33
Predicted Effect probably benign
Transcript: ENSMUST00000169373
AA Change: I204F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: I204F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.6e-52 PFAM
Pfam:7tm_1 39 289 8.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217590
AA Change: I204F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bche A G 3: 73,609,216 (GRCm39) L70P probably damaging Het
Cacna1h C A 17: 25,602,752 (GRCm39) probably benign Het
Ccdc60 A T 5: 116,284,274 (GRCm39) probably benign Het
Cep152 T C 2: 125,460,371 (GRCm39) N194D probably benign Het
Chodl T A 16: 78,738,321 (GRCm39) D96E probably damaging Het
Clca3b C A 3: 144,552,671 (GRCm39) G122* probably null Het
Crybg1 T C 10: 43,865,245 (GRCm39) I1411V probably damaging Het
Dock9 A C 14: 121,876,940 (GRCm39) V477G probably damaging Het
Fam149a T A 8: 45,794,265 (GRCm39) E632D probably damaging Het
Gabra4 A G 5: 71,781,358 (GRCm39) V351A probably damaging Het
Gen1 T A 12: 11,298,265 (GRCm39) I319L probably benign Het
Gne C A 4: 44,055,211 (GRCm39) D255Y probably damaging Het
Gpr146 A G 5: 139,378,705 (GRCm39) H169R probably benign Het
Htatip2 A G 7: 49,409,522 (GRCm39) E92G probably benign Het
Ipcef1 A G 10: 6,869,732 (GRCm39) S223P probably damaging Het
Kcnmb2 T A 3: 32,252,276 (GRCm39) *37R probably null Het
Lin54 A T 5: 100,602,337 (GRCm39) V400E probably damaging Het
Ltbp1 C A 17: 75,589,413 (GRCm39) Q511K possibly damaging Het
Lyg1 A G 1: 37,989,849 (GRCm39) probably benign Het
Nampt T A 12: 32,892,685 (GRCm39) V324D possibly damaging Het
Nat8b-ps T G 6: 85,909,950 (GRCm39) probably benign Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Nfkb1 T C 3: 135,324,591 (GRCm39) E179G possibly damaging Het
Nlrc5 T A 8: 95,248,536 (GRCm39) probably benign Het
Or8k38 A T 2: 86,488,775 (GRCm39) L9Q possibly damaging Het
Pcdh15 G A 10: 74,191,706 (GRCm39) V601M probably damaging Het
Pigc G A 1: 161,798,345 (GRCm39) R109Q possibly damaging Het
Plxna2 A G 1: 194,483,435 (GRCm39) N1582S probably damaging Het
Pros1 C T 16: 62,728,132 (GRCm39) Q279* probably null Het
Psmb5 A G 14: 54,854,014 (GRCm39) S155P probably damaging Het
Rock2 T A 12: 17,003,341 (GRCm39) D393E probably benign Het
Slc25a21 T C 12: 56,785,410 (GRCm39) T156A probably benign Het
Slc44a1 T A 4: 53,536,374 (GRCm39) Y183* probably null Het
Sytl2 C T 7: 90,041,642 (GRCm39) P580L probably damaging Het
Tktl2 G T 8: 66,964,936 (GRCm39) V165F probably damaging Het
Trim55 A G 3: 19,728,629 (GRCm39) E480G probably benign Het
Vmn2r92 T A 17: 18,386,972 (GRCm39) S104T possibly damaging Het
Vps51 C T 19: 6,120,078 (GRCm39) R490H probably damaging Het
Wdr43 G A 17: 71,948,282 (GRCm39) V391I probably benign Het
Zranb1 T G 7: 132,551,635 (GRCm39) Y121* probably null Het
Other mutations in Or12d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Or12d2 APN 17 37,624,598 (GRCm39) missense possibly damaging 0.90
IGL01947:Or12d2 APN 17 37,624,556 (GRCm39) missense probably damaging 1.00
IGL02164:Or12d2 APN 17 37,624,578 (GRCm39) missense probably benign 0.01
IGL02465:Or12d2 APN 17 37,624,802 (GRCm39) missense probably damaging 0.99
R0712:Or12d2 UTSW 17 37,624,975 (GRCm39) missense probably damaging 0.96
R1572:Or12d2 UTSW 17 37,624,371 (GRCm39) missense probably benign
R1749:Or12d2 UTSW 17 37,624,952 (GRCm39) missense probably benign 0.05
R3083:Or12d2 UTSW 17 37,625,086 (GRCm39) missense probably damaging 1.00
R4022:Or12d2 UTSW 17 37,625,165 (GRCm39) missense probably benign
R5203:Or12d2 UTSW 17 37,625,092 (GRCm39) missense probably damaging 1.00
R5367:Or12d2 UTSW 17 37,625,147 (GRCm39) missense probably damaging 1.00
R5387:Or12d2 UTSW 17 37,625,183 (GRCm39) missense probably benign 0.22
R5488:Or12d2 UTSW 17 37,624,559 (GRCm39) missense probably damaging 1.00
R6804:Or12d2 UTSW 17 37,625,021 (GRCm39) missense probably damaging 1.00
R7442:Or12d2 UTSW 17 37,624,816 (GRCm39) missense possibly damaging 0.89
R7473:Or12d2 UTSW 17 37,624,522 (GRCm39) missense probably benign 0.03
R8110:Or12d2 UTSW 17 37,624,604 (GRCm39) missense probably benign 0.00
R8887:Or12d2 UTSW 17 37,624,642 (GRCm39) missense probably damaging 1.00
R9400:Or12d2 UTSW 17 37,624,554 (GRCm39) nonsense probably null
Posted On 2016-08-02