Incidental Mutation 'IGL02453:Or1b1'
ID 293739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1b1
Ensembl Gene ENSMUSG00000075377
Gene Name olfactory receptor family 1 subfamily B member 1
Synonyms Olfr362, GA_x6K02T2NLDC-33797415-33796462, MOR158-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02453
Quality Score
Status
Chromosome 2
Chromosomal Location 36994707-36995660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36995209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 151 (V151E)
Ref Sequence ENSEMBL: ENSMUSP00000150819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100144] [ENSMUST00000213817] [ENSMUST00000215927]
AlphaFold Q8VGV7
Predicted Effect probably benign
Transcript: ENSMUST00000100144
AA Change: V151E

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097722
Gene: ENSMUSG00000075377
AA Change: V151E

DomainStartEndE-ValueType
Pfam:7tm_4 32 313 6.3e-50 PFAM
Pfam:7TM_GPCR_Srsx 36 164 1.6e-7 PFAM
Pfam:7tm_1 42 295 1.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119049
Predicted Effect probably benign
Transcript: ENSMUST00000213817
AA Change: V151E

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215927
AA Change: V151E

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,075 (GRCm39) probably null Het
Actr1b A G 1: 36,741,588 (GRCm39) S51P probably damaging Het
Cdhr3 T C 12: 33,092,502 (GRCm39) Y703C probably damaging Het
Col9a1 A T 1: 24,218,438 (GRCm39) L54F unknown Het
Crim1 A G 17: 78,651,913 (GRCm39) K546E probably damaging Het
Dap3 A G 3: 88,835,634 (GRCm39) V240A probably benign Het
Dmtf1l G T X: 125,722,223 (GRCm39) S294* probably null Het
Dmtf1l T C X: 125,722,686 (GRCm39) I140V possibly damaging Het
Hadha T C 5: 30,349,304 (GRCm39) probably benign Het
Imp3 G T 9: 56,845,293 (GRCm39) R168L probably benign Het
Otop2 T A 11: 115,215,455 (GRCm39) Y125* probably null Het
Pacs1 A G 19: 5,185,033 (GRCm39) W931R probably damaging Het
Rasgrf1 A T 9: 89,826,813 (GRCm39) M141L possibly damaging Het
Ryr3 C A 2: 112,512,073 (GRCm39) probably benign Het
Strbp A T 2: 37,476,520 (GRCm39) probably null Het
Sult2a5 T A 7: 13,396,432 (GRCm39) M173K possibly damaging Het
Tmem63a G A 1: 180,790,634 (GRCm39) V431M probably benign Het
Vmn2r114 T A 17: 23,530,108 (GRCm39) T100S probably benign Het
Wdr45 T C X: 7,593,520 (GRCm39) probably null Het
Other mutations in Or1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02032:Or1b1 APN 2 36,994,773 (GRCm39) missense probably damaging 1.00
IGL02141:Or1b1 APN 2 36,995,437 (GRCm39) missense probably benign 0.00
IGL02444:Or1b1 APN 2 36,994,786 (GRCm39) missense probably damaging 0.99
R0699:Or1b1 UTSW 2 36,995,074 (GRCm39) missense possibly damaging 0.92
R1053:Or1b1 UTSW 2 36,995,476 (GRCm39) missense probably damaging 1.00
R1387:Or1b1 UTSW 2 36,994,880 (GRCm39) missense probably benign 0.24
R4914:Or1b1 UTSW 2 36,995,170 (GRCm39) missense possibly damaging 0.67
R4918:Or1b1 UTSW 2 36,995,170 (GRCm39) missense possibly damaging 0.67
R5009:Or1b1 UTSW 2 36,995,467 (GRCm39) missense possibly damaging 0.92
R5114:Or1b1 UTSW 2 36,994,814 (GRCm39) missense probably damaging 1.00
R5301:Or1b1 UTSW 2 36,995,210 (GRCm39) missense probably benign 0.01
R7322:Or1b1 UTSW 2 36,995,603 (GRCm39) missense probably null 0.00
R7440:Or1b1 UTSW 2 36,995,181 (GRCm39) missense possibly damaging 0.85
R7583:Or1b1 UTSW 2 36,995,539 (GRCm39) nonsense probably null
R8892:Or1b1 UTSW 2 36,995,523 (GRCm39) missense probably damaging 1.00
R9264:Or1b1 UTSW 2 36,994,801 (GRCm39) missense probably damaging 1.00
Z1176:Or1b1 UTSW 2 36,995,648 (GRCm39) missense probably benign
Posted On 2015-04-16