Incidental Mutation 'R9141:Or4d2b'
ID 694354
Institutional Source Beutler Lab
Gene Symbol Or4d2b
Ensembl Gene ENSMUSG00000093839
Gene Name olfactory receptor family 4 subfamily D member 2B
Synonyms GA_x6K02T2PAEV-9536824-9535889, Olfr462, MOR240-3
MMRRC Submission 068933-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R9141 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 87779785-87780720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87780056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 222 (L222Q)
Ref Sequence ENSEMBL: ENSMUSP00000149954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049743] [ENSMUST00000081417] [ENSMUST00000213672] [ENSMUST00000213928] [ENSMUST00000215150] [ENSMUST00000217095]
AlphaFold Q5SW50
Predicted Effect probably damaging
Transcript: ENSMUST00000049743
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055334
Gene: ENSMUSG00000093839
AA Change: L222Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.2e-40 PFAM
Pfam:7tm_1 41 287 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081417
SMART Domains Protein: ENSMUSP00000080146
Gene: ENSMUSG00000093920

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 6.3e-41 PFAM
Pfam:7tm_1 41 287 8.6e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213672
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213928
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215150
Predicted Effect probably benign
Transcript: ENSMUST00000217095
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,851,264 (GRCm39) D2159G possibly damaging Het
Adamts8 A G 9: 30,864,721 (GRCm39) Y404C possibly damaging Het
Arhgef16 A C 4: 154,366,300 (GRCm39) L489R probably damaging Het
BC034090 C T 1: 155,108,474 (GRCm39) probably benign Het
Cdc25b T C 2: 131,033,857 (GRCm39) probably null Het
Cert1 T A 13: 96,753,568 (GRCm39) F393I probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cttnbp2 A T 6: 18,429,138 (GRCm39) C163* probably null Het
Dclre1a A T 19: 56,533,542 (GRCm39) F351I probably damaging Het
Ddx46 T A 13: 55,823,892 (GRCm39) Y933N probably damaging Het
Dnai4 A T 4: 102,906,743 (GRCm39) I690N probably damaging Het
Eif2b3 C A 4: 116,923,578 (GRCm39) Y264* probably null Het
Esco1 T C 18: 10,594,731 (GRCm39) K185R possibly damaging Het
F11 A G 8: 45,703,092 (GRCm39) probably null Het
Fmo2 T C 1: 162,709,623 (GRCm39) M255V probably null Het
Hdac7 T C 15: 97,697,649 (GRCm39) T677A probably benign Het
Iqcn C T 8: 71,162,421 (GRCm39) T538M probably benign Het
Krt84 C A 15: 101,440,974 (GRCm39) V73F probably benign Het
Lamc1 A G 1: 153,123,196 (GRCm39) Y665H probably benign Het
Lrrc27 A G 7: 138,807,861 (GRCm39) I323V probably benign Het
Ltbp1 C T 17: 75,598,309 (GRCm39) R597W possibly damaging Het
Nfib T G 4: 82,416,529 (GRCm39) T170P probably damaging Het
Nufip1 A T 14: 76,370,413 (GRCm39) E371D possibly damaging Het
Optn T A 2: 5,059,485 (GRCm39) E11V possibly damaging Het
Pdha2 T C 3: 140,917,211 (GRCm39) E99G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prox1 T C 1: 189,892,511 (GRCm39) probably null Het
Ptbp1 T A 10: 79,694,897 (GRCm39) I75N probably damaging Het
R3hdm1 T C 1: 128,164,212 (GRCm39) L1042P probably damaging Het
Ralgapb A T 2: 158,262,811 (GRCm39) Q16H possibly damaging Het
Scmh1 T C 4: 120,362,556 (GRCm39) V264A probably benign Het
Sec23a A G 12: 59,053,890 (GRCm39) V36A probably benign Het
Serpina3a A G 12: 104,087,649 (GRCm39) N191D probably benign Het
Slc10a7 T A 8: 79,236,241 (GRCm39) M13K probably benign Het
Slco2a1 G T 9: 102,945,254 (GRCm39) probably benign Het
Smchd1 C T 17: 71,672,125 (GRCm39) S1643N probably benign Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Spata31h1 T A 10: 82,126,610 (GRCm39) K2133N probably damaging Het
St6galnac6 T C 2: 32,505,094 (GRCm39) I202T probably damaging Het
Stab2 T C 10: 86,704,911 (GRCm39) K1819R probably damaging Het
Strn3 T C 12: 51,694,873 (GRCm39) T297A probably damaging Het
Sult1b1 T A 5: 87,665,280 (GRCm39) E218V probably damaging Het
Urb2 T G 8: 124,755,285 (GRCm39) L331V probably damaging Het
Vmn1r86 A T 7: 12,836,789 (GRCm39) L29* probably null Het
Vmn2r52 G T 7: 9,905,331 (GRCm39) Y169* probably null Het
Zfp592 A T 7: 80,674,205 (GRCm39) T390S probably damaging Het
Other mutations in Or4d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0613:Or4d2b UTSW 11 87,780,053 (GRCm39) missense possibly damaging 0.90
R1116:Or4d2b UTSW 11 87,780,234 (GRCm39) missense probably benign 0.00
R1371:Or4d2b UTSW 11 87,780,122 (GRCm39) missense probably damaging 1.00
R1415:Or4d2b UTSW 11 87,780,473 (GRCm39) missense possibly damaging 0.91
R1444:Or4d2b UTSW 11 87,780,585 (GRCm39) missense probably benign 0.00
R4591:Or4d2b UTSW 11 87,780,375 (GRCm39) missense probably benign 0.35
R4860:Or4d2b UTSW 11 87,780,051 (GRCm39) missense probably damaging 1.00
R4860:Or4d2b UTSW 11 87,780,051 (GRCm39) missense probably damaging 1.00
R5019:Or4d2b UTSW 11 87,779,801 (GRCm39) missense probably benign
R5521:Or4d2b UTSW 11 87,780,545 (GRCm39) missense probably damaging 0.99
R6967:Or4d2b UTSW 11 87,780,324 (GRCm39) missense probably benign 0.02
R7186:Or4d2b UTSW 11 87,780,591 (GRCm39) missense possibly damaging 0.69
R8025:Or4d2b UTSW 11 87,779,777 (GRCm39) critical splice donor site probably null
R8245:Or4d2b UTSW 11 87,780,443 (GRCm39) missense probably damaging 1.00
R8918:Or4d2b UTSW 11 87,780,284 (GRCm39) missense probably benign 0.01
R9426:Or4d2b UTSW 11 87,780,056 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGAGCGTGTAGATCATGG -3'
(R):5'- TGTCCAGCTGTCTCTGATGC -3'

Sequencing Primer
(F):5'- AGATCATGGGGTTGAGCATG -3'
(R):5'- AGCTGTCTCTGATGCTCCCG -3'
Posted On 2022-01-20