Incidental Mutation 'IGL02935:Or2bd2'
ID 364273
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: 0.057) question?
Stock # IGL02935
Quality Score
Status
Chromosome 7
Chromosomal Location 6442901-6443866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6443753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 285 (V285M)
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 possibly damaging
Transcript: ENSMUST00000168341
AA Change: V285M

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: V285M

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 possibly damaging
Transcript: ENSMUST00000218906
AA Change: V285M

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,709,675 (GRCm39) P13L possibly damaging Het
A930016O22Rik A T 7: 19,154,338 (GRCm39) probably benign Het
Ajuba A G 14: 54,807,924 (GRCm39) F436S probably damaging Het
Bptf C A 11: 106,971,625 (GRCm39) A961S probably damaging Het
Brca1 A G 11: 101,380,693 (GRCm39) V1780A probably benign Het
Bub1 A G 2: 127,643,215 (GRCm39) L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 (GRCm39) M433K possibly damaging Het
Col4a1 T C 8: 11,269,166 (GRCm39) D928G probably damaging Het
Colq G A 14: 31,257,591 (GRCm39) P259S probably damaging Het
Csmd1 T C 8: 16,273,348 (GRCm39) Y828C probably damaging Het
Dennd5a T C 7: 109,520,514 (GRCm39) R448G possibly damaging Het
Dip2c A G 13: 9,712,182 (GRCm39) D1435G probably damaging Het
Dst T A 1: 34,225,926 (GRCm39) L1188* probably null Het
Duox1 G T 2: 122,155,000 (GRCm39) G462C possibly damaging Het
Flcn A T 11: 59,686,062 (GRCm39) I402N possibly damaging Het
Fuca2 G A 10: 13,383,063 (GRCm39) E344K probably null Het
Golim4 T C 3: 75,802,299 (GRCm39) H331R possibly damaging Het
Grid1 A T 14: 34,544,515 (GRCm39) I29F possibly damaging Het
Hltf T A 3: 20,123,215 (GRCm39) F201Y probably damaging Het
Ipo8 A T 6: 148,691,339 (GRCm39) I677N probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Meox2 A T 12: 37,159,104 (GRCm39) H92L probably damaging Het
Mlec C A 5: 115,295,873 (GRCm39) R74L probably benign Het
Mrpl58 G A 11: 115,301,054 (GRCm39) probably benign Het
Mtch1 T C 17: 29,555,184 (GRCm39) D288G probably benign Het
Myo16 A G 8: 10,582,990 (GRCm39) E1090G probably benign Het
Nicn1 A G 9: 108,167,845 (GRCm39) N39S probably benign Het
Nlrp9c A G 7: 26,084,701 (GRCm39) S293P probably benign Het
Or51b4 T C 7: 103,530,871 (GRCm39) N193S probably damaging Het
Or5al1 G T 2: 85,990,714 (GRCm39) probably benign Het
Pcdh20 T A 14: 88,704,438 (GRCm39) probably benign Het
Peg3 C A 7: 6,714,128 (GRCm39) V365F probably damaging Het
Penk A G 4: 4,133,843 (GRCm39) F268S probably damaging Het
Pitrm1 T A 13: 6,603,300 (GRCm39) Y116N probably damaging Het
Prex1 C A 2: 166,412,265 (GRCm39) G389C probably damaging Het
Ptch2 C T 4: 116,971,967 (GRCm39) A1163V probably damaging Het
Rasgrp3 G A 17: 75,804,065 (GRCm39) V123I probably benign Het
Slc36a2 G T 11: 55,060,854 (GRCm39) N185K possibly damaging Het
Sox9 G T 11: 112,676,175 (GRCm39) G455C probably damaging Het
St6galnac1 G T 11: 116,660,171 (GRCm39) D47E probably benign Het
Taar5 A T 10: 23,847,415 (GRCm39) D271V probably damaging Het
Top3a A T 11: 60,653,354 (GRCm39) I85K possibly damaging Het
Ttll8 T A 15: 88,798,759 (GRCm39) M659L probably benign Het
Ythdc2 C T 18: 44,988,112 (GRCm39) R656C 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
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 2015-12-18