Incidental Mutation 'R2984:Or4d2'
ID 257769
Institutional Source Beutler Lab
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: 0.780) question?
Stock # R2984 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 87783813-87784748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87784572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 59 (M59I)
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: M59I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080146
Gene: ENSMUSG00000093920
AA Change: M59I

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: M59I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217095
AA Change: M59I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A G 4: 56,744,531 (GRCm39) I353V probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Csmd1 C A 8: 16,003,782 (GRCm39) G2591C probably damaging Het
Lnx1 A T 5: 74,846,083 (GRCm39) C122* probably null Het
Lrp2 A T 2: 69,256,158 (GRCm39) probably null Het
Ncf4 A G 15: 78,146,520 (GRCm39) K317E probably benign Het
Pafah2 A G 4: 134,139,182 (GRCm39) E196G possibly damaging Het
Pkhd1 T C 1: 20,293,185 (GRCm39) N2812D possibly damaging Het
Sf3a3 A T 4: 124,612,202 (GRCm39) K153M probably damaging Het
Tex2 C A 11: 106,437,489 (GRCm39) probably null Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Other mutations in Or4d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Or4d2 APN 11 87,784,191 (GRCm39) missense possibly damaging 0.46
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
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
Predicted Primers PCR Primer
(F):5'- GCGGTCATAAGCCATTACTGAG -3'
(R):5'- CTTGGATCGGTCAGCCATTTC -3'

Sequencing Primer
(F):5'- TCATAAGCCATTACTGAGAGGAAG -3'
(R):5'- TCCTTTAGGTTCATGCAGAAGACACC -3'
Posted On 2015-01-11