Incidental Mutation 'R0930:Or6b2b'
ID 80710
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0930 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 92418540-92419475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92419127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 117 (S117P)
Ref Sequence ENSEMBL: ENSMUSP00000145446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071521] [ENSMUST00000204009] [ENSMUST00000204766]
AlphaFold Q7TQS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000071521
AA Change: S117P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084047
Gene: ENSMUSG00000057464
AA Change: S117P

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: S117P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145446
Gene: ENSMUSG00000057464
AA Change: S117P

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.3e-53 PFAM
Pfam:7tm_1 41 290 1.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204766
SMART Domains Protein: ENSMUSP00000144986
Gene: ENSMUSG00000057464

DomainStartEndE-ValueType
Blast:CLECT 1 65 1e-7 BLAST
Meta Mutation Damage Score 0.2126 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G T 17: 84,990,705 (GRCm39) V16L probably benign Het
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Agpat4 A T 17: 12,417,723 (GRCm39) E88V probably damaging Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Ankrd2 T A 19: 42,032,292 (GRCm39) probably null Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Caprin2 T C 6: 148,785,009 (GRCm39) probably null Het
Cars1 T A 7: 143,124,307 (GRCm39) H373L probably damaging Het
Ccdc191 G T 16: 43,751,618 (GRCm39) G316V probably damaging Het
Cd244a T A 1: 171,404,801 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Cul3 A T 1: 80,267,835 (GRCm39) M102K probably damaging Het
Dact1 A G 12: 71,365,234 (GRCm39) R672G probably damaging Het
Dapk1 T C 13: 60,905,262 (GRCm39) F991L probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Exosc4 A G 15: 76,211,734 (GRCm39) I14M probably benign Het
Ezr G A 17: 7,021,398 (GRCm39) R180* probably null Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Fyb1 A T 15: 6,668,309 (GRCm39) I501F probably damaging Het
Hdac5 G T 11: 102,095,472 (GRCm39) P383Q probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Krt36 A G 11: 99,994,225 (GRCm39) F284S probably damaging Het
L1td1 A G 4: 98,625,862 (GRCm39) N686D probably damaging Het
Lsamp G A 16: 41,709,327 (GRCm39) G86S probably benign Het
Myh8 A G 11: 67,196,824 (GRCm39) E1819G possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nphp4 T G 4: 152,622,512 (GRCm39) L599R probably benign Het
Nrcam A G 12: 44,596,667 (GRCm39) I301V probably benign Het
Os9 C T 10: 126,932,924 (GRCm39) R547Q probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Plekho2 T C 9: 65,464,105 (GRCm39) D248G possibly damaging Het
Rab43 A T 6: 87,769,752 (GRCm39) Y151* probably null Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sdk2 A G 11: 113,729,271 (GRCm39) I1102T probably benign Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Slc3a1 A G 17: 85,367,171 (GRCm39) T453A probably benign Het
Sod1 A G 16: 90,022,071 (GRCm39) D93G probably benign Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Stxbp4 A C 11: 90,512,526 (GRCm39) M1R probably null Het
Tbc1d7 A T 13: 43,318,812 (GRCm39) Y108* probably null Het
Ticam1 A T 17: 56,577,226 (GRCm39) V623D unknown Het
Ticam1 A G 17: 56,578,687 (GRCm39) L136P probably damaging Het
Tjap1 A C 17: 46,569,455 (GRCm39) W512G possibly damaging Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Wdr45b A T 11: 121,221,040 (GRCm39) F213I probably damaging Het
Xdh A C 17: 74,230,077 (GRCm39) W285G probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null 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
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
R6199:Or6b2b UTSW 1 92,419,264 (GRCm39) missense possibly damaging 0.89
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'- ATGAAGGCCAGGATGAAGTCCACC -3'
(R):5'- CTGCTACTCACAGGAACCAGGAATG -3'

Sequencing Primer
(F):5'- GATGAAGTCCACCAGCTCTG -3'
(R):5'- AACCAGGAATGCTGTCTGTC -3'
Posted On 2013-11-07