Incidental Mutation 'R6199:Or6b2b'
ID 503082
Institutional Source Beutler Lab
Gene Symbol Or6b2b
Ensembl Gene ENSMUSG00000057464
Gene Name olfactory receptor family 6 subfamily B member 2B
Synonyms MOR103-12, GA_x6K02T2R7CC-81266841-81267776, Olfr1415
MMRRC Submission 044339-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6199 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 92418540-92419475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92419264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 71 (I71N)
Ref Sequence ENSEMBL: ENSMUSP00000144986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071521] [ENSMUST00000204009] [ENSMUST00000204766]
AlphaFold Q7TQS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000071521
AA Change: I71N

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084047
Gene: ENSMUSG00000057464
AA Change: I71N

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.3e-53 PFAM
Pfam:7tm_1 41 290 1.2e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204009
AA Change: I71N

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145446
Gene: ENSMUSG00000057464
AA Change: I71N

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.3e-53 PFAM
Pfam:7tm_1 41 290 1.2e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204766
AA Change: I71N

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144986
Gene: ENSMUSG00000057464
AA Change: I71N

DomainStartEndE-ValueType
Blast:CLECT 1 65 1e-7 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,407,887 (GRCm39) D206V possibly damaging Het
Ank2 T A 3: 126,797,655 (GRCm39) D685V probably damaging Het
Baz2b A G 2: 59,809,019 (GRCm39) S77P probably benign Het
Ccdc194 T C 8: 71,978,109 (GRCm39) N83D probably benign Het
Ceacam5 A T 7: 17,448,810 (GRCm39) T59S probably benign Het
Cemip2 G A 19: 21,822,186 (GRCm39) G1194S probably benign Het
Ces1e A C 8: 93,944,163 (GRCm39) F218L probably damaging Het
Cilk1 T C 9: 78,071,921 (GRCm39) V531A probably benign Het
Cps1 TGTCCATTGGTC TGTC 1: 67,201,774 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eftud2 A T 11: 102,730,883 (GRCm39) V843E probably damaging Het
Fuca2 G T 10: 13,381,783 (GRCm39) W232L probably damaging Het
Gdf7 T C 12: 8,348,832 (GRCm39) D155G unknown Het
Ggcx G T 6: 72,407,122 (GRCm39) V753F possibly damaging Het
Ghrhr A T 6: 55,356,173 (GRCm39) T89S probably benign Het
Gpr151 T C 18: 42,711,619 (GRCm39) K353R probably benign Het
Gpr75 T C 11: 30,841,527 (GRCm39) L144P probably damaging Het
Gsdmc2 A G 15: 63,696,962 (GRCm39) I403T probably benign Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Insc A T 7: 114,390,401 (GRCm39) probably null Het
Izumo4 G A 10: 80,538,707 (GRCm39) G53D probably damaging Het
Ksr1 G A 11: 78,911,267 (GRCm39) P693S possibly damaging Het
Lgals4 G A 7: 28,535,317 (GRCm39) R27H probably damaging Het
Lpcat2b A G 5: 107,581,171 (GRCm39) R167G probably benign Het
Man1a C T 10: 53,890,552 (GRCm39) V288I possibly damaging Het
Map2 T G 1: 66,464,637 (GRCm39) S1676A probably damaging Het
Mbl1 G T 14: 40,875,572 (GRCm39) V9F unknown Het
Mrgprb8 T A 7: 48,039,051 (GRCm39) C241S probably benign Het
Mrpl2 T C 17: 46,960,012 (GRCm39) L227P probably damaging Het
Mthfd1 T A 12: 76,335,685 (GRCm39) V253E probably damaging Het
Mthfd1 A G 12: 76,350,454 (GRCm39) H464R probably damaging Het
Mug2 T A 6: 122,024,398 (GRCm39) M490K probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Notch1 A G 2: 26,359,911 (GRCm39) V1268A probably damaging Het
Or8b12c C A 9: 37,716,177 (GRCm39) probably null Het
Pgm1 A T 4: 99,836,151 (GRCm39) I412F probably damaging Het
Plaur A T 7: 24,164,628 (GRCm39) Q44L possibly damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppm1h G A 10: 122,756,644 (GRCm39) V430M probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Prph A G 15: 98,954,713 (GRCm39) T35A probably benign Het
Prrc2c C T 1: 162,510,085 (GRCm39) G780S probably damaging Het
Ptchd3 T A 11: 121,721,908 (GRCm39) N260K probably benign Het
Ptprz1 A G 6: 23,002,470 (GRCm39) D1520G probably benign Het
Samd9l T A 6: 3,376,686 (GRCm39) I192L probably benign Het
Slc39a10 T C 1: 46,874,993 (GRCm39) D103G probably damaging Het
Smndc1 G A 19: 53,372,063 (GRCm39) T117M probably benign Het
Tesk2 A G 4: 116,649,367 (GRCm39) D159G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r108 A T 17: 20,682,644 (GRCm39) N853K probably benign Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Other mutations in Or6b2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03066:Or6b2b APN 1 92,419,305 (GRCm39) missense probably damaging 1.00
R0538:Or6b2b UTSW 1 92,419,055 (GRCm39) missense possibly damaging 0.77
R0924:Or6b2b UTSW 1 92,419,127 (GRCm39) missense possibly damaging 0.95
R0930:Or6b2b UTSW 1 92,419,127 (GRCm39) missense possibly damaging 0.95
R1025:Or6b2b UTSW 1 92,419,445 (GRCm39) missense probably benign 0.19
R1201:Or6b2b UTSW 1 92,418,875 (GRCm39) missense probably benign 0.04
R1413:Or6b2b UTSW 1 92,418,610 (GRCm39) missense probably damaging 1.00
R1510:Or6b2b UTSW 1 92,419,339 (GRCm39) missense probably damaging 1.00
R1846:Or6b2b UTSW 1 92,418,822 (GRCm39) nonsense probably null
R1850:Or6b2b UTSW 1 92,419,124 (GRCm39) missense possibly damaging 0.89
R1940:Or6b2b UTSW 1 92,419,457 (GRCm39) missense probably benign 0.14
R2760:Or6b2b UTSW 1 92,418,802 (GRCm39) missense probably damaging 0.99
R4066:Or6b2b UTSW 1 92,418,911 (GRCm39) missense probably damaging 1.00
R4837:Or6b2b UTSW 1 92,418,697 (GRCm39) missense probably benign 0.39
R5310:Or6b2b UTSW 1 92,418,758 (GRCm39) missense probably damaging 1.00
R5503:Or6b2b UTSW 1 92,418,918 (GRCm39) missense probably benign 0.07
R5748:Or6b2b UTSW 1 92,418,815 (GRCm39) missense probably damaging 0.99
R5760:Or6b2b UTSW 1 92,418,922 (GRCm39) missense possibly damaging 0.95
R5853:Or6b2b UTSW 1 92,419,439 (GRCm39) missense probably benign 0.00
R5926:Or6b2b UTSW 1 92,419,288 (GRCm39) missense probably damaging 1.00
R7585:Or6b2b UTSW 1 92,419,042 (GRCm39) missense probably benign 0.10
R7627:Or6b2b UTSW 1 92,419,107 (GRCm39) nonsense probably null
R7726:Or6b2b UTSW 1 92,419,029 (GRCm39) missense probably benign 0.30
R8011:Or6b2b UTSW 1 92,418,997 (GRCm39) missense possibly damaging 0.60
R8306:Or6b2b UTSW 1 92,419,247 (GRCm39) missense possibly damaging 0.64
R9142:Or6b2b UTSW 1 92,419,411 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCATGATGACTTGGTAGCGCAG -3'
(R):5'- GGAGAACATCACCAAGGTCAGC -3'

Sequencing Primer
(F):5'- CAGGGGGTGGCAGATGGC -3'
(R):5'- AGCACCTTCATCCTGCTGGG -3'
Posted On 2018-02-27