Incidental Mutation 'R5275:Or2bd2'
ID 403883
Institutional Source Beutler Lab
Gene Symbol Or2bd2
Ensembl Gene ENSMUSG00000090824
Gene Name olfactory receptor family 2 subfamily BD member 2
Synonyms GA_x6K02T2QGBW-3169916-3170881, MOR124-1, Olfr1344, 4930415J05Rik
MMRRC Submission 042838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5275 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 6442901-6443866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6443015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 39 (T39S)
Ref Sequence ENSEMBL: ENSMUSP00000151666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054781] [ENSMUST00000168341] [ENSMUST00000218906]
AlphaFold Q7TQV3
Predicted Effect probably benign
Transcript: ENSMUST00000054781
SMART Domains Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929

DomainStartEndE-ValueType
low complexity region 57 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168341
AA Change: T39S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: T39S

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3e-49 PFAM
Pfam:7TM_GPCR_Srsx 37 224 1.9e-7 PFAM
Pfam:7tm_1 43 295 1.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218906
AA Change: T39S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (59/59)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Abcc1 C T 16: 14,284,050 (GRCm39) L1222F probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Apold1 G T 6: 134,960,763 (GRCm39) L72F probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Becn2 A G 1: 175,748,336 (GRCm39) H134R probably benign Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Chd6 A G 2: 160,811,283 (GRCm39) L1440P probably benign Het
Clca3a2 A G 3: 144,519,340 (GRCm39) S279P probably damaging Het
Cma1 A T 14: 56,179,157 (GRCm39) I233N probably damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Dst T C 1: 34,219,229 (GRCm39) S1890P probably benign Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm5117 T A 8: 32,229,595 (GRCm39) noncoding transcript Het
H2-T5 T C 17: 36,472,567 (GRCm39) probably null Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Opa1 C T 16: 29,430,397 (GRCm39) T451I probably damaging Het
Or4f15 T A 2: 111,814,174 (GRCm39) I82F probably damaging Het
Or4k1 T A 14: 50,377,953 (GRCm39) I48F probably benign Het
Pcdh12 T A 18: 38,417,154 (GRCm39) probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Ppan T A 9: 20,801,069 (GRCm39) Y115* probably null Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Ptpn20 A G 14: 33,353,149 (GRCm39) H296R probably benign Het
Rergl A G 6: 139,478,819 (GRCm39) probably null Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Scfd1 A T 12: 51,462,372 (GRCm39) H409L probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Slc24a5 C T 2: 124,927,781 (GRCm39) T360I probably benign Het
Snx6 T C 12: 54,830,807 (GRCm39) H51R probably damaging Het
Sorl1 A T 9: 41,942,198 (GRCm39) V1009D probably benign Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Tlk1 C T 2: 70,582,549 (GRCm39) probably benign Het
Tnc G A 4: 63,882,967 (GRCm39) Q1885* probably null Het
Vcl T C 14: 21,060,146 (GRCm39) V595A probably damaging Het
Vmn1r84 A T 7: 12,095,741 (GRCm39) N305K probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Other mutations in Or2bd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02217:Or2bd2 APN 7 6,443,244 (GRCm39) missense probably damaging 0.96
IGL02689:Or2bd2 APN 7 6,443,574 (GRCm39) missense possibly damaging 0.95
IGL02935:Or2bd2 APN 7 6,443,753 (GRCm39) missense possibly damaging 0.91
R0100:Or2bd2 UTSW 7 6,443,399 (GRCm39) missense probably damaging 1.00
R0100:Or2bd2 UTSW 7 6,443,399 (GRCm39) missense probably damaging 1.00
R0108:Or2bd2 UTSW 7 6,443,399 (GRCm39) missense probably damaging 1.00
R4041:Or2bd2 UTSW 7 6,443,688 (GRCm39) missense probably damaging 1.00
R4247:Or2bd2 UTSW 7 6,441,901 (GRCm39) utr 5 prime probably benign
R5475:Or2bd2 UTSW 7 6,443,169 (GRCm39) missense probably benign 0.21
R6016:Or2bd2 UTSW 7 6,443,613 (GRCm39) missense probably benign
R6048:Or2bd2 UTSW 7 6,443,354 (GRCm39) missense possibly damaging 0.58
R6541:Or2bd2 UTSW 7 6,443,492 (GRCm39) missense probably benign 0.04
R7945:Or2bd2 UTSW 7 6,443,354 (GRCm39) missense probably benign
R8134:Or2bd2 UTSW 7 6,441,922 (GRCm39) utr 5 prime probably benign
R8893:Or2bd2 UTSW 7 6,443,285 (GRCm39) missense probably damaging 1.00
R8956:Or2bd2 UTSW 7 6,442,020 (GRCm39) splice site probably benign
R9211:Or2bd2 UTSW 7 6,443,417 (GRCm39) missense probably damaging 1.00
R9639:Or2bd2 UTSW 7 6,443,290 (GRCm39) missense probably benign 0.12
X0060:Or2bd2 UTSW 7 6,443,074 (GRCm39) missense probably damaging 1.00
Z1177:Or2bd2 UTSW 7 6,443,820 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TACACTCCCAGCTCAGACTGTC -3'
(R):5'- TCACCAGGGTCGCATAATGC -3'

Sequencing Primer
(F):5'- CAGCTCAGACTGTCTGCAG -3'
(R):5'- TCGCATAATGCAGCGGTCTG -3'
Posted On 2016-07-22