Incidental Mutation 'R5006:Or6b6'
ID 390165
Institutional Source Beutler Lab
Gene Symbol Or6b6
Ensembl Gene ENSMUSG00000045013
Gene Name olfactory receptor family 6 subfamily B member 6
Synonyms MOR103-4, Olfr711, GA_x6K02T2PBJ9-9352783-9351839
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5006 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 106570575-106574658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106570808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 248 (V248I)
Ref Sequence ENSEMBL: ENSMUSP00000149016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051715] [ENSMUST00000207200] [ENSMUST00000216335]
AlphaFold Q9EPG2
Predicted Effect probably damaging
Transcript: ENSMUST00000051715
AA Change: V248I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055724
Gene: ENSMUSG00000045013
AA Change: V248I

Pfam:7tm_4 31 307 1.5e-58 PFAM
Pfam:7tm_1 41 290 1.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207200
AA Change: V248I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216335
AA Change: V248I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 C A 5: 24,781,535 (GRCm39) E51* probably null Het
Bcl11a T A 11: 24,114,989 (GRCm39) Y777* probably null Het
C2cd4c T A 10: 79,448,341 (GRCm39) T269S probably benign Het
Ciao2a G A 9: 66,043,634 (GRCm39) probably null Het
Efcab3 T A 11: 104,620,503 (GRCm39) probably null Het
Foxp1 A C 6: 99,139,819 (GRCm39) V54G probably damaging Het
Il2ra T G 2: 11,679,157 (GRCm39) L39R possibly damaging Het
Klk1b9 A T 7: 43,628,711 (GRCm39) K72* probably null Het
Lmo7 A G 14: 102,163,673 (GRCm39) probably benign Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Nebl T A 2: 17,393,582 (GRCm39) probably null Het
Or7e169 G T 9: 19,757,567 (GRCm39) A116E probably benign Het
Or7g30 A G 9: 19,352,545 (GRCm39) N112S probably benign Het
Ralgapa1 A T 12: 55,764,899 (GRCm39) C918S probably benign Het
Rasd2 G T 8: 75,945,234 (GRCm39) R21L probably damaging Het
Sema4a A G 3: 88,344,091 (GRCm39) M720T probably benign Het
Susd3 A G 13: 49,392,181 (GRCm39) probably benign Het
Vmn1r235 T C 17: 21,482,467 (GRCm39) M264T probably benign Het
Wls A G 3: 159,617,428 (GRCm39) I368V possibly damaging Het
Ypel4 A G 2: 84,567,182 (GRCm39) D5G probably benign Het
Zbtb38 C T 9: 96,567,704 (GRCm39) G1127S probably damaging Het
Other mutations in Or6b6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02600:Or6b6 APN 7 106,570,756 (GRCm39) missense possibly damaging 0.51
R0087:Or6b6 UTSW 7 106,571,323 (GRCm39) missense probably benign 0.01
R0580:Or6b6 UTSW 7 106,571,447 (GRCm39) missense probably damaging 1.00
R1375:Or6b6 UTSW 7 106,571,305 (GRCm39) missense probably damaging 1.00
R1538:Or6b6 UTSW 7 106,571,190 (GRCm39) nonsense probably null
R1875:Or6b6 UTSW 7 106,571,389 (GRCm39) missense possibly damaging 0.86
R2156:Or6b6 UTSW 7 106,570,775 (GRCm39) missense probably damaging 1.00
R4290:Or6b6 UTSW 7 106,570,918 (GRCm39) missense probably damaging 0.97
R4332:Or6b6 UTSW 7 106,571,354 (GRCm39) missense probably benign 0.00
R4400:Or6b6 UTSW 7 106,571,209 (GRCm39) missense probably damaging 1.00
R4688:Or6b6 UTSW 7 106,571,068 (GRCm39) missense probably benign 0.02
R4868:Or6b6 UTSW 7 106,570,974 (GRCm39) missense probably benign
R4970:Or6b6 UTSW 7 106,570,778 (GRCm39) missense probably benign 0.35
R5082:Or6b6 UTSW 7 106,570,871 (GRCm39) missense probably benign 0.00
R5121:Or6b6 UTSW 7 106,571,438 (GRCm39) missense probably benign
R6465:Or6b6 UTSW 7 106,571,419 (GRCm39) missense possibly damaging 0.63
R6541:Or6b6 UTSW 7 106,571,410 (GRCm39) missense probably benign 0.20
R7419:Or6b6 UTSW 7 106,571,353 (GRCm39) missense probably benign 0.01
R8048:Or6b6 UTSW 7 106,571,671 (GRCm39) start gained probably benign
R9310:Or6b6 UTSW 7 106,570,678 (GRCm39) missense probably damaging 1.00
R9470:Or6b6 UTSW 7 106,571,461 (GRCm39) missense probably benign 0.26
R9603:Or6b6 UTSW 7 106,571,103 (GRCm39) nonsense probably null
Z1177:Or6b6 UTSW 7 106,571,122 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06