Incidental Mutation 'IGL01304:Or4b1b'
ID 73346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4b1b
Ensembl Gene ENSMUSG00000075061
Gene Name olfactory receptor family 4 subfamily B member 1B
Synonyms Olfr1272, GA_x6K02T2Q125-51636504-51635578, MOR227-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01304
Quality Score
Chromosome 2
Chromosomal Location 90111991-90112917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90112425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 165 (P165S)
Ref Sequence ENSEMBL: ENSMUSP00000150745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099750] [ENSMUST00000117141]
AlphaFold Q8VGN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000099750
AA Change: P165S

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: P165S

Pfam:7tm_4 29 303 7.5e-52 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.5e-5 PFAM
Pfam:7tm_1 39 285 1.8e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117141
AA Change: P165S

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,204,153 (GRCm39) D79E probably benign Het
Aplf A C 6: 87,618,882 (GRCm39) S421A possibly damaging Het
Arnt T G 3: 95,355,696 (GRCm39) D13E probably damaging Het
Asap1 T C 15: 64,184,298 (GRCm39) E45G probably damaging Het
C2cd2l T C 9: 44,230,884 (GRCm39) N101S probably damaging Het
Cby2 T A 14: 75,830,085 (GRCm39) D36V possibly damaging Het
Chmp7 G A 14: 69,956,062 (GRCm39) P402L probably benign Het
Cir1 A T 2: 73,118,068 (GRCm39) probably null Het
Clock A G 5: 76,414,202 (GRCm39) probably null Het
Col18a1 T G 10: 76,911,975 (GRCm39) probably benign Het
Csf2ra G A 19: 61,215,271 (GRCm39) H115Y possibly damaging Het
Cspg5 T A 9: 110,085,236 (GRCm39) L469H probably damaging Het
Dapk2 T C 9: 66,139,139 (GRCm39) probably benign Het
F13a1 T C 13: 37,172,852 (GRCm39) D176G probably benign Het
Fbn2 T C 18: 58,194,817 (GRCm39) E1448G probably damaging Het
Gtf2b C T 3: 142,487,359 (GRCm39) S265L probably benign Het
Hmcn1 C T 1: 150,498,675 (GRCm39) G4068D probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Ksr1 T C 11: 78,918,468 (GRCm39) Q562R probably damaging Het
Lrif1 C T 3: 106,639,049 (GRCm39) P20S probably damaging Het
Mamdc4 T C 2: 25,453,588 (GRCm39) T1194A possibly damaging Het
Med18 C A 4: 132,186,930 (GRCm39) A190S probably damaging Het
Mia2 G A 12: 59,151,324 (GRCm39) E105K probably damaging Het
Mnt T A 11: 74,733,011 (GRCm39) Y48N probably damaging Het
Mpp4 A C 1: 59,188,678 (GRCm39) probably null Het
Popdc3 T G 10: 45,194,005 (GRCm39) S269A probably benign Het
Ppp6r3 A T 19: 3,517,261 (GRCm39) M662K probably damaging Het
Qser1 C A 2: 104,617,976 (GRCm39) Q945H probably damaging Het
Rad52 A G 6: 119,895,594 (GRCm39) E198G probably damaging Het
Ranbp17 A G 11: 33,216,147 (GRCm39) V867A possibly damaging Het
Rdh16 G T 10: 127,649,365 (GRCm39) A274S probably benign Het
Slco1a5 G T 6: 142,187,876 (GRCm39) Q488K probably benign Het
Snai2 T C 16: 14,524,635 (GRCm39) I47T probably benign Het
Snw1 T C 12: 87,500,685 (GRCm39) D358G possibly damaging Het
Speg T C 1: 75,404,841 (GRCm39) F2878L probably benign Het
Spg11 T C 2: 121,902,771 (GRCm39) Y1386C probably damaging Het
Tgfb2 A C 1: 186,357,670 (GRCm39) I435S probably damaging Het
Ttc9b G A 7: 27,355,410 (GRCm39) D227N probably benign Het
Txndc2 T C 17: 65,945,448 (GRCm39) E243G possibly damaging Het
Usp28 A G 9: 48,938,119 (GRCm39) D563G probably damaging Het
Vmn1r77 T C 7: 11,775,962 (GRCm39) V178A probably damaging Het
Zfp316 A G 5: 143,240,181 (GRCm39) F613L probably benign Het
Zfp870 A T 17: 33,101,980 (GRCm39) C450S possibly damaging Het
Other mutations in Or4b1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Or4b1b APN 2 90,112,263 (GRCm39) missense probably damaging 1.00
IGL01951:Or4b1b APN 2 90,112,351 (GRCm39) missense probably damaging 1.00
IGL02473:Or4b1b APN 2 90,112,040 (GRCm39) missense probably null 1.00
IGL02494:Or4b1b APN 2 90,112,295 (GRCm39) missense probably benign 0.35
IGL03410:Or4b1b APN 2 90,112,557 (GRCm39) missense probably damaging 1.00
R0350:Or4b1b UTSW 2 90,112,926 (GRCm39) splice site probably null
R0363:Or4b1b UTSW 2 90,112,200 (GRCm39) missense probably damaging 1.00
R0401:Or4b1b UTSW 2 90,112,748 (GRCm39) missense probably damaging 1.00
R0666:Or4b1b UTSW 2 90,112,212 (GRCm39) missense probably damaging 0.96
R1860:Or4b1b UTSW 2 90,112,502 (GRCm39) missense probably damaging 1.00
R1861:Or4b1b UTSW 2 90,112,502 (GRCm39) missense probably damaging 1.00
R2374:Or4b1b UTSW 2 90,112,795 (GRCm39) missense possibly damaging 0.76
R4256:Or4b1b UTSW 2 90,112,406 (GRCm39) missense probably damaging 1.00
R4737:Or4b1b UTSW 2 90,112,725 (GRCm39) missense probably damaging 1.00
R4827:Or4b1b UTSW 2 90,112,547 (GRCm39) missense probably damaging 1.00
R5198:Or4b1b UTSW 2 90,126,737 (GRCm39) missense probably damaging 1.00
R5589:Or4b1b UTSW 2 90,112,313 (GRCm39) missense probably damaging 1.00
R6412:Or4b1b UTSW 2 90,112,202 (GRCm39) missense probably damaging 1.00
R7130:Or4b1b UTSW 2 90,112,266 (GRCm39) missense probably benign
R7317:Or4b1b UTSW 2 90,112,748 (GRCm39) missense probably damaging 1.00
R7497:Or4b1b UTSW 2 90,112,098 (GRCm39) missense possibly damaging 0.74
R7762:Or4b1b UTSW 2 90,126,975 (GRCm39) nonsense probably null
R8271:Or4b1b UTSW 2 90,112,616 (GRCm39) missense possibly damaging 0.74
R8347:Or4b1b UTSW 2 90,112,020 (GRCm39) missense probably benign 0.22
R8703:Or4b1b UTSW 2 90,126,837 (GRCm39) missense probably damaging 1.00
R8794:Or4b1b UTSW 2 90,112,150 (GRCm39) nonsense probably null
R8824:Or4b1b UTSW 2 90,126,356 (GRCm39) missense probably damaging 0.98
R8910:Or4b1b UTSW 2 90,126,848 (GRCm39) missense possibly damaging 0.80
R8934:Or4b1b UTSW 2 90,112,356 (GRCm39) missense probably benign 0.07
R9548:Or4b1b UTSW 2 90,111,991 (GRCm39) makesense probably null
Posted On 2013-10-07