Incidental Mutation 'IGL02217:Or2bd2'
ID 284957
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02217
Quality Score
Status
Chromosome 7
Chromosomal Location 6442901-6443866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6443244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 115 (I115N)
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 damaging
Transcript: ENSMUST00000168341
AA Change: I115N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: I115N

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 damaging
Transcript: ENSMUST00000218906
AA Change: I115N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cul3 A T 1: 80,261,484 (GRCm39) M247K probably damaging Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hace1 A T 10: 45,466,471 (GRCm39) probably null Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nme4 A G 17: 26,312,834 (GRCm39) M108T probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Proser1 A G 3: 53,378,912 (GRCm39) K115E probably damaging Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rbbp8nl A G 2: 179,919,981 (GRCm39) probably benign Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Setd4 A G 16: 93,390,183 (GRCm39) L82P probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T probably benign Het
Other mutations in Or2bd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5275:Or2bd2 UTSW 7 6,443,015 (GRCm39) missense probably benign 0.01
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
Posted On 2015-04-16