Incidental Mutation 'IGL02375:Or5b12b'
ID 291057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b12b
Ensembl Gene ENSMUSG00000045126
Gene Name olfactory receptor family 5 subfamily B member 12B
Synonyms MOR202-7, GA_x6K02T2RE5P-3213352-3214296, Olfr1445
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL02375
Quality Score
Status
Chromosome 19
Chromosomal Location 12861247-12862191 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12861305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 20 (E20G)
Ref Sequence ENSEMBL: ENSMUSP00000058933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049624] [ENSMUST00000216805]
AlphaFold Q8VFW9
Predicted Effect probably benign
Transcript: ENSMUST00000049624
AA Change: E20G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: E20G

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.7e-54 PFAM
Pfam:7tm_1 39 288 4.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216805
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,813 (GRCm39) K76N possibly damaging Het
Agxt A G 1: 93,063,425 (GRCm39) E109G probably damaging Het
Alcam T C 16: 52,109,299 (GRCm39) T325A probably benign Het
Apol7c T C 15: 77,413,049 (GRCm39) E67G probably damaging Het
Bco1 C A 8: 117,840,178 (GRCm39) S232Y probably benign Het
Cacna1c A T 6: 118,652,884 (GRCm39) V763D probably damaging Het
Ccdc15 T C 9: 37,215,628 (GRCm39) D618G probably damaging Het
Cimip1 A G 2: 173,364,496 (GRCm39) M14V probably benign Het
Col6a5 T C 9: 105,783,312 (GRCm39) N1603S unknown Het
Cyp4v3 A G 8: 45,761,411 (GRCm39) probably null Het
Eml5 A T 12: 98,810,346 (GRCm39) V870E probably damaging Het
Epn2 A G 11: 61,410,497 (GRCm39) V512A probably damaging Het
Farp2 A G 1: 93,504,185 (GRCm39) R321G probably damaging Het
Garin3 G T 11: 46,297,379 (GRCm39) V228L probably damaging Het
Gprasp1 T C X: 134,701,552 (GRCm39) S582P probably damaging Het
Grhl2 T C 15: 37,291,821 (GRCm39) V303A probably damaging Het
Grik1 A T 16: 87,743,444 (GRCm39) F594L probably damaging Het
Hivep1 A G 13: 42,309,925 (GRCm39) K722E probably benign Het
Htr5b G A 1: 121,455,564 (GRCm39) R119C probably damaging Het
Ifit2 T C 19: 34,551,737 (GRCm39) S426P probably benign Het
Kif13a T C 13: 46,978,698 (GRCm39) Y234C probably damaging Het
Mios T A 6: 8,222,598 (GRCm39) F511I probably benign Het
Mtfmt T C 9: 65,346,849 (GRCm39) W148R probably damaging Het
Myo1c C A 11: 75,552,400 (GRCm39) T391N probably benign Het
Nlrp1a A T 11: 71,004,339 (GRCm39) L710* probably null Het
Nlrp1b A G 11: 71,052,506 (GRCm39) I971T probably damaging Het
Nup43 A G 10: 7,549,358 (GRCm39) D171G probably damaging Het
P2rx7 T C 5: 122,811,719 (GRCm39) probably benign Het
Pgap6 T A 17: 26,338,473 (GRCm39) Y512N probably benign Het
Poli C T 18: 70,656,363 (GRCm39) G155R probably damaging Het
Rad9b T C 5: 122,471,405 (GRCm39) S220G possibly damaging Het
Rgn C T X: 20,416,700 (GRCm39) S28L probably damaging Het
Tcp11l2 G A 10: 84,440,932 (GRCm39) probably null Het
Tenm4 G A 7: 96,353,344 (GRCm39) V379I possibly damaging Het
Thsd7a A T 6: 12,343,264 (GRCm39) C1118S probably damaging Het
Trpm7 A G 2: 126,667,664 (GRCm39) Y776H probably damaging Het
Trpv4 T C 5: 114,774,418 (GRCm39) N222S probably benign Het
Tut1 C T 19: 8,941,403 (GRCm39) R397C probably damaging Het
Vmn1r72 T A 7: 11,403,672 (GRCm39) T259S probably benign Het
Wdr17 A G 8: 55,149,423 (GRCm39) S2P possibly damaging Het
Other mutations in Or5b12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Or5b12b APN 19 12,861,265 (GRCm39) missense probably benign 0.03
IGL01786:Or5b12b APN 19 12,861,641 (GRCm39) missense probably damaging 0.99
IGL03220:Or5b12b APN 19 12,861,815 (GRCm39) missense possibly damaging 0.80
IGL03232:Or5b12b APN 19 12,861,636 (GRCm39) nonsense probably null
R0505:Or5b12b UTSW 19 12,861,910 (GRCm39) missense probably damaging 1.00
R0505:Or5b12b UTSW 19 12,861,443 (GRCm39) missense probably damaging 1.00
R0541:Or5b12b UTSW 19 12,861,458 (GRCm39) missense probably damaging 1.00
R0681:Or5b12b UTSW 19 12,861,910 (GRCm39) missense probably damaging 1.00
R0681:Or5b12b UTSW 19 12,861,443 (GRCm39) missense probably damaging 1.00
R2187:Or5b12b UTSW 19 12,861,619 (GRCm39) missense probably damaging 1.00
R2231:Or5b12b UTSW 19 12,861,313 (GRCm39) missense probably benign 0.00
R3706:Or5b12b UTSW 19 12,861,260 (GRCm39) missense probably damaging 1.00
R4698:Or5b12b UTSW 19 12,861,985 (GRCm39) missense probably benign 0.08
R5558:Or5b12b UTSW 19 12,861,751 (GRCm39) missense probably benign 0.01
R6163:Or5b12b UTSW 19 12,861,472 (GRCm39) missense probably damaging 1.00
R7057:Or5b12b UTSW 19 12,862,006 (GRCm39) missense probably damaging 0.98
R7063:Or5b12b UTSW 19 12,861,449 (GRCm39) missense probably damaging 1.00
R7705:Or5b12b UTSW 19 12,861,871 (GRCm39) missense probably benign 0.01
R8073:Or5b12b UTSW 19 12,861,980 (GRCm39) missense probably benign 0.00
R8174:Or5b12b UTSW 19 12,861,268 (GRCm39) missense probably benign 0.04
R8922:Or5b12b UTSW 19 12,861,458 (GRCm39) missense probably damaging 1.00
R9283:Or5b12b UTSW 19 12,861,961 (GRCm39) missense probably damaging 1.00
R9461:Or5b12b UTSW 19 12,861,875 (GRCm39) missense possibly damaging 0.54
R9590:Or5b12b UTSW 19 12,861,980 (GRCm39) missense probably benign
R9784:Or5b12b UTSW 19 12,861,874 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16