Incidental Mutation 'R9426:Or4d2b'
ID 712639
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R9426 (G1)
Quality Score 225.009
Status Not 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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 48 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
Adprhl1 A G 8: 13,274,034 (GRCm39) F908S possibly damaging Het
Arhgef16 A C 4: 154,366,300 (GRCm39) L489R probably damaging Het
Asmt G A X: 169,110,199 (GRCm39) G236E probably damaging Het
Ces2e A G 8: 105,656,220 (GRCm39) Y177C probably damaging Het
Cfap43 A G 19: 47,814,237 (GRCm39) I199T probably damaging Het
Chac1 T A 2: 119,183,914 (GRCm39) F172Y possibly damaging Het
Cldnd2 A T 7: 43,092,688 (GRCm39) I160F possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Coq10b C G 1: 55,106,719 (GRCm39) L175V possibly damaging Het
Cpne6 T C 14: 55,751,176 (GRCm39) probably null 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
Fcgbpl1 A T 7: 27,843,281 (GRCm39) H723L possibly damaging Het
Fhod1 C T 8: 106,056,490 (GRCm39) R1100Q probably benign Het
Hao1 T A 2: 134,347,555 (GRCm39) H250L probably benign Het
Has3 A G 8: 107,600,823 (GRCm39) Y95C probably damaging Het
Hoxc10 A T 15: 102,879,289 (GRCm39) K270* probably null Het
Kcnq5 A G 1: 21,473,118 (GRCm39) F710L probably benign Het
Knl1 C T 2: 118,899,979 (GRCm39) T560I possibly damaging 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
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Optn T A 2: 5,059,485 (GRCm39) E11V possibly damaging Het
Phf3 A T 1: 30,870,625 (GRCm39) L141* probably null Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prkcg C T 7: 3,375,975 (GRCm39) S540F probably damaging 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
Scmh1 T C 4: 120,362,556 (GRCm39) V264A probably benign Het
Sec23a A G 12: 59,053,890 (GRCm39) V36A probably benign Het
Senp2 A G 16: 21,828,491 (GRCm39) S34G probably damaging Het
Serpina3a A G 12: 104,087,649 (GRCm39) N191D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smchd1 C T 17: 71,672,125 (GRCm39) S1643N probably benign Het
Snrk T A 9: 121,986,326 (GRCm39) Y232N probably damaging Het
Spata31h1 T A 10: 82,126,610 (GRCm39) K2133N probably damaging Het
Spmip3 T A 1: 177,570,834 (GRCm39) L56* probably null 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
Tcp10c T C 17: 13,584,463 (GRCm39) S275P probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Urb2 T G 8: 124,755,285 (GRCm39) L331V probably damaging 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
R9141:Or4d2b UTSW 11 87,780,056 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAGCGTGTAGATCATGGG -3'
(R):5'- ATTGTCCAGCTGTCTCTGATGC -3'

Sequencing Primer
(F):5'- AGATCATGGGGTTGAGCATG -3'
(R):5'- AGCTGTCTCTGATGCTCCCG -3'
Posted On 2022-05-16