Incidental Mutation 'R6412:Or4b1b'
ID 514616
Institutional Source Beutler Lab
Gene Symbol Or4b1b
Ensembl Gene ENSMUSG00000075061
Gene Name olfactory receptor family 4 subfamily B member 1B
Synonyms Olfr1272, GA_x6K02T2Q125-51636504-51635578, MOR227-3
MMRRC Submission 044385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R6412 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 90111991-90112917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90112202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 239 (A239D)
Ref Sequence ENSEMBL: ENSMUSP00000150745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099750] [ENSMUST00000117141]
AlphaFold Q8VGN8
Predicted Effect probably damaging
Transcript: ENSMUST00000099750
AA Change: A239D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: A239D

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000117141
AA Change: A239D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 A G 9: 107,807,116 (GRCm39) I480V probably benign Het
BC025920 T C 10: 81,445,195 (GRCm39) V106A probably benign Het
Bhlhe23 A G 2: 180,417,963 (GRCm39) F192L possibly damaging Het
Cftr C T 6: 18,285,603 (GRCm39) T1137I probably damaging Het
Chst8 T C 7: 34,375,504 (GRCm39) M112V probably benign Het
Cilk1 T C 9: 78,047,258 (GRCm39) S53P probably damaging Het
Fbxw26 T A 9: 109,561,715 (GRCm39) M160L probably damaging Het
Gm3264 A G 14: 16,058,238 (GRCm39) K81R probably damaging Het
Htr3b T C 9: 48,857,819 (GRCm39) N141S possibly damaging Het
Itgb2l T C 16: 96,228,929 (GRCm39) S425G probably benign Het
Kbtbd12 T C 6: 88,595,638 (GRCm39) E64G probably damaging Het
Lct T C 1: 128,255,455 (GRCm39) T196A probably benign Het
Luzp2 T C 7: 54,707,794 (GRCm39) S61P probably damaging Het
Or5l14 A T 2: 87,792,693 (GRCm39) L181Q probably damaging Het
Rag1 A G 2: 101,472,865 (GRCm39) V759A probably damaging Het
Ret C T 6: 118,161,245 (GRCm39) R77H probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sbno1 T C 5: 124,530,777 (GRCm39) T840A probably damaging Het
Skic2 A G 17: 35,059,276 (GRCm39) V1057A possibly damaging Het
Spocd1 C T 4: 129,847,365 (GRCm39) S518L probably benign Het
Thbs2 A C 17: 14,897,339 (GRCm39) L723R probably damaging Het
Vmn1r223 G T 13: 23,433,825 (GRCm39) V140F probably benign Het
Vmn2r52 A G 7: 9,904,936 (GRCm39) V301A probably benign Het
Vwf T C 6: 125,656,279 (GRCm39) F2615L probably benign Het
Wdr81 G T 11: 75,341,989 (GRCm39) P1093T probably benign Het
Xdh T C 17: 74,242,902 (GRCm39) E135G probably benign Het
Zfp990 C A 4: 145,264,138 (GRCm39) P379T probably benign Het
Other mutations in Or4b1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Or4b1b APN 2 90,112,425 (GRCm39) missense possibly damaging 0.55
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
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
Predicted Primers PCR Primer
(F):5'- GCCCCACAATTTCTTCATGG -3'
(R):5'- TGGTCCCAATGTGATTGACC -3'

Sequencing Primer
(F):5'- ACAATTTCTTCATGGCATTTTTCAC -3'
(R):5'- GTGACCTGCAGCCATTATTTAAGC -3'
Posted On 2018-05-04