Incidental Mutation 'IGL00234:Or4d2'
ID 2214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4d2
Ensembl Gene ENSMUSG00000093920
Gene Name olfactory receptor family 4 subfamily D member 2
Synonyms MOR240-1, GA_x6K02T2PAEV-9540823-9539888, Olfr463
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # IGL00234
Quality Score
Status
Chromosome 11
Chromosomal Location 87783813-87784748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87784191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 186 (R186S)
Ref Sequence ENSEMBL: ENSMUSP00000149255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049743] [ENSMUST00000081417] [ENSMUST00000213672] [ENSMUST00000213928] [ENSMUST00000215150] [ENSMUST00000217095]
AlphaFold Q5SW49
Predicted Effect probably benign
Transcript: ENSMUST00000049743
SMART Domains Protein: ENSMUSP00000055334
Gene: ENSMUSG00000093839

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.2e-40 PFAM
Pfam:7tm_1 41 287 1.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000081417
AA Change: R186S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080146
Gene: ENSMUSG00000093920
AA Change: R186S

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 6.3e-41 PFAM
Pfam:7tm_1 41 287 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213672
Predicted Effect probably benign
Transcript: ENSMUST00000213928
Predicted Effect possibly damaging
Transcript: ENSMUST00000215150
AA Change: R186S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217095
AA Change: R186S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 34,000,242 (GRCm39) N42S probably damaging Het
Apoc4 A T 7: 19,412,665 (GRCm39) S27T probably benign Het
Atp13a3 T A 16: 30,170,097 (GRCm39) Q363L probably damaging Het
Cfap69 A G 5: 5,667,295 (GRCm39) Y417H probably benign Het
Cry1 A G 10: 84,982,698 (GRCm39) S243P probably benign Het
Epb41l2 A G 10: 25,377,734 (GRCm39) T116A probably damaging Het
Foxb1 A G 9: 69,667,480 (GRCm39) S17P probably damaging Het
Glb1l3 A T 9: 26,764,967 (GRCm39) L148H probably damaging Het
Hnrnpk T C 13: 58,543,111 (GRCm39) probably benign Het
Icam5 G A 9: 20,948,091 (GRCm39) probably null Het
Lats1 A G 10: 7,567,330 (GRCm39) I34V probably damaging Het
Lipc A T 9: 70,727,719 (GRCm39) Y43N possibly damaging Het
Maml3 A G 3: 51,598,125 (GRCm39) I207T probably benign Het
Nfatc2 A T 2: 168,346,810 (GRCm39) S761R probably damaging Het
Nubp1 G A 16: 10,240,703 (GRCm39) G280S probably damaging Het
Pabpc4 A G 4: 123,180,497 (GRCm39) N73S probably damaging Het
Pcsk6 G A 7: 65,577,568 (GRCm39) C163Y probably damaging Het
Phf3 G A 1: 30,850,928 (GRCm39) T1142M probably damaging Het
Prune2 T A 19: 17,145,708 (GRCm39) probably null Het
Psmd7 A G 8: 108,312,342 (GRCm39) V85A probably damaging Het
Rc3h2 A G 2: 37,279,759 (GRCm39) V490A possibly damaging Het
Sh3tc1 A C 5: 35,868,301 (GRCm39) S388A probably damaging Het
Trank1 T C 9: 111,221,677 (GRCm39) F2805L probably damaging Het
Yars2 T C 16: 16,121,185 (GRCm39) L113P probably damaging Het
Zfp82 G A 7: 29,765,755 (GRCm39) S16L probably damaging Het
Other mutations in Or4d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Or4d2 APN 11 87,784,447 (GRCm39) missense possibly damaging 0.52
R0463:Or4d2 UTSW 11 87,784,022 (GRCm39) missense probably damaging 1.00
R0608:Or4d2 UTSW 11 87,784,022 (GRCm39) missense probably damaging 1.00
R2984:Or4d2 UTSW 11 87,784,572 (GRCm39) missense possibly damaging 0.90
R3055:Or4d2 UTSW 11 87,784,198 (GRCm39) missense possibly damaging 0.95
R5276:Or4d2 UTSW 11 87,784,018 (GRCm39) missense probably damaging 1.00
R5517:Or4d2 UTSW 11 87,783,892 (GRCm39) missense probably damaging 1.00
R5540:Or4d2 UTSW 11 87,784,511 (GRCm39) nonsense probably null
R5934:Or4d2 UTSW 11 87,784,049 (GRCm39) missense possibly damaging 0.73
R6002:Or4d2 UTSW 11 87,784,633 (GRCm39) missense probably damaging 0.99
R6602:Or4d2 UTSW 11 87,784,478 (GRCm39) missense probably benign 0.02
R8975:Or4d2 UTSW 11 87,784,645 (GRCm39) missense probably damaging 0.99
R9495:Or4d2 UTSW 11 87,784,082 (GRCm39) missense probably benign 0.07
Posted On 2011-12-09