Incidental Mutation 'R6626:Or6b1'
ID 524799
Institutional Source Beutler Lab
Gene Symbol Or6b1
Ensembl Gene ENSMUSG00000049168
Gene Name olfactory receptor family 6 subfamily B member 1
Synonyms Olfr449, GA_x6K02T2P3E9-4722003-4721068, MOR103-1
MMRRC Submission 044748-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6626 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 42811350-42815816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42815582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 256 (M256V)
Ref Sequence ENSEMBL: ENSMUSP00000148895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050729] [ENSMUST00000204072] [ENSMUST00000204229] [ENSMUST00000214687]
AlphaFold Q8VGW8
Predicted Effect probably benign
Transcript: ENSMUST00000050729
AA Change: M256V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000059233
Gene: ENSMUSG00000049168
AA Change: M256V

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 2.7e-52 PFAM
Pfam:7tm_1 41 288 2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204072
AA Change: M256V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000204229
SMART Domains Protein: ENSMUSP00000145055
Gene: ENSMUSG00000049168

DomainStartEndE-ValueType
Pfam:7tm_4 31 130 1.7e-20 PFAM
Pfam:7tm_1 41 130 2.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214687
AA Change: M256V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T C 11: 3,888,056 (GRCm39) H110R unknown Het
Adgrv1 T A 13: 81,666,245 (GRCm39) D1937V probably damaging Het
Ank1 T A 8: 23,465,207 (GRCm39) L19H probably damaging Het
Bcl9 C T 3: 97,122,712 (GRCm39) R29H probably benign Het
Boc A T 16: 44,340,803 (GRCm39) I49N possibly damaging Het
C8a T C 4: 104,703,164 (GRCm39) I298V probably benign Het
Cacna1s T C 1: 136,022,703 (GRCm39) S879P probably damaging Het
Cacna2d3 T C 14: 28,786,143 (GRCm39) probably benign Het
Dnm1 A G 2: 32,230,892 (GRCm39) I63T probably damaging Het
Flnb C T 14: 7,929,012 (GRCm38) R1914C probably damaging Het
Gm9493 A T 19: 23,597,209 (GRCm39) K35M possibly damaging Het
Gpld1 T C 13: 25,163,953 (GRCm39) S552P probably damaging Het
Hacd1 T A 2: 14,031,755 (GRCm39) I243F probably benign Het
Klhdc4 A G 8: 122,546,901 (GRCm39) V110A probably benign Het
Krt26 C T 11: 99,220,528 (GRCm39) V441M probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Nav2 A G 7: 49,244,100 (GRCm39) Y2109C probably damaging Het
Ncbp3 T A 11: 72,964,210 (GRCm39) S387T possibly damaging Het
Notch2 T G 3: 98,008,921 (GRCm39) V513G probably damaging Het
Nt5c1b A T 12: 10,424,837 (GRCm39) R128* probably null Het
Olig2 T C 16: 91,024,044 (GRCm39) S253P unknown Het
Or8g17 A G 9: 38,930,402 (GRCm39) V145A possibly damaging Het
Or8k53 C T 2: 86,177,364 (GRCm39) V249I possibly damaging Het
Phkb T A 8: 86,648,780 (GRCm39) F199I probably damaging Het
Rnf17 A G 14: 56,665,381 (GRCm39) T178A possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Sfxn2 A T 19: 46,570,967 (GRCm39) N9I possibly damaging Het
Slc16a4 G A 3: 107,208,512 (GRCm39) A341T possibly damaging Het
Spata31h1 A G 10: 82,128,667 (GRCm39) F1448L probably benign Het
Tank T A 2: 61,480,640 (GRCm39) probably benign Het
Tnr A T 1: 159,677,822 (GRCm39) Y69F probably damaging Het
Trp53bp1 T C 2: 121,038,284 (GRCm39) D1518G probably damaging Het
Txndc16 T C 14: 45,398,792 (GRCm39) probably null Het
Ugp2 A G 11: 21,281,028 (GRCm39) Y227H probably damaging Het
Vps50 G A 6: 3,551,101 (GRCm39) W388* probably null Het
Zfp516 T A 18: 83,006,232 (GRCm39) D1045E probably damaging Het
Zscan10 C T 17: 23,824,831 (GRCm39) P96S probably damaging Het
Other mutations in Or6b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01904:Or6b1 APN 6 42,815,223 (GRCm39) missense possibly damaging 0.76
IGL02193:Or6b1 APN 6 42,815,753 (GRCm39) utr 3 prime probably benign
IGL02496:Or6b1 APN 6 42,815,738 (GRCm39) missense probably benign 0.00
IGL03302:Or6b1 APN 6 42,814,937 (GRCm39) nonsense probably null
IGL03333:Or6b1 APN 6 42,815,637 (GRCm39) missense possibly damaging 0.95
R1340:Or6b1 UTSW 6 42,814,943 (GRCm39) missense probably benign 0.00
R1926:Or6b1 UTSW 6 42,815,247 (GRCm39) missense probably damaging 1.00
R2418:Or6b1 UTSW 6 42,814,983 (GRCm39) missense probably benign 0.03
R4837:Or6b1 UTSW 6 42,814,783 (GRCm39) splice site probably null
R5466:Or6b1 UTSW 6 42,815,027 (GRCm39) missense probably benign 0.08
R5733:Or6b1 UTSW 6 42,815,180 (GRCm39) missense probably damaging 0.97
R6411:Or6b1 UTSW 6 42,815,654 (GRCm39) missense possibly damaging 0.57
R6912:Or6b1 UTSW 6 42,815,736 (GRCm39) missense probably benign
R7278:Or6b1 UTSW 6 42,811,330 (GRCm39) splice site probably null
R7399:Or6b1 UTSW 6 42,815,680 (GRCm39) nonsense probably null
R7703:Or6b1 UTSW 6 42,814,938 (GRCm39) missense probably damaging 1.00
R8325:Or6b1 UTSW 6 42,815,124 (GRCm39) missense probably damaging 1.00
R9182:Or6b1 UTSW 6 42,815,010 (GRCm39) missense probably benign 0.05
Z1176:Or6b1 UTSW 6 42,814,911 (GRCm39) missense probably damaging 1.00
Z1177:Or6b1 UTSW 6 42,815,310 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGCCCCAATGTCATCAACC -3'
(R):5'- AGTCAGATCGGATGACCTGG -3'

Sequencing Primer
(F):5'- ACATGTCCATTGCAGAGCTG -3'
(R):5'- TCGGATGACCTGGCAATAAATC -3'
Posted On 2018-06-22