Incidental Mutation 'R1246:Or56b2'
ID 152153
Institutional Source Beutler Lab
Gene Symbol Or56b2
Ensembl Gene ENSMUSG00000073920
Gene Name olfactory receptor family 56 subfamily B member 2
Synonyms Olfr661, MOR40-4, GA_x6K02T2PBJ9-7316375-7317334
MMRRC Submission 039313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R1246 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104337224-104338183 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104337371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 50 (L50I)
Ref Sequence ENSEMBL: ENSMUSP00000151208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098168] [ENSMUST00000214876]
AlphaFold Q99NH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000098168
AA Change: L50I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095770
Gene: ENSMUSG00000073920
AA Change: L50I

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 5.9e-74 PFAM
Pfam:7TM_GPCR_Srsx 41 312 2e-9 PFAM
Pfam:7tm_1 47 297 1.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211165
Predicted Effect possibly damaging
Transcript: ENSMUST00000214876
AA Change: L50I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215864
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,803 (GRCm39) D71G unknown Het
Gm11563 T C 11: 99,549,674 (GRCm39) T27A unknown Het
Gm7361 G T 5: 26,466,225 (GRCm39) E196* probably null Het
Ltbp1 T A 17: 75,692,156 (GRCm39) Y1273* probably null Het
Nol8 T A 13: 49,830,245 (GRCm39) W1110R probably damaging Het
Or52b4 T A 7: 102,184,149 (GRCm39) L65H probably damaging Het
Or8b1 T C 9: 38,400,086 (GRCm39) S254P probably damaging Het
Pde4d T A 13: 110,087,507 (GRCm39) W625R probably damaging Het
Pigg T C 5: 108,489,686 (GRCm39) Y631H probably damaging Het
Pik3cd A G 4: 149,744,257 (GRCm39) Y165H probably damaging Het
Rap1gap A G 4: 137,439,405 (GRCm39) E114G possibly damaging Het
Tubb2b G A 13: 34,312,130 (GRCm39) T221I possibly damaging Het
Ythdf2 G A 4: 131,932,182 (GRCm39) T326M probably benign Het
Zzef1 A G 11: 72,765,735 (GRCm39) I1421V probably benign Het
Other mutations in Or56b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Or56b2 APN 7 104,337,588 (GRCm39) missense probably benign 0.00
IGL01578:Or56b2 APN 7 104,338,052 (GRCm39) missense probably benign 0.01
IGL01595:Or56b2 APN 7 104,337,285 (GRCm39) missense possibly damaging 0.78
IGL01732:Or56b2 APN 7 104,337,543 (GRCm39) missense possibly damaging 0.64
IGL02086:Or56b2 APN 7 104,337,634 (GRCm39) missense probably benign 0.38
IGL02421:Or56b2 APN 7 104,337,740 (GRCm39) missense probably benign 0.00
IGL02874:Or56b2 APN 7 104,337,230 (GRCm39) missense probably benign 0.16
IGL03120:Or56b2 APN 7 104,337,609 (GRCm39) missense probably benign 0.28
R0735:Or56b2 UTSW 7 104,338,026 (GRCm39) missense probably damaging 0.97
R1654:Or56b2 UTSW 7 104,337,420 (GRCm39) missense probably benign 0.12
R1994:Or56b2 UTSW 7 104,337,690 (GRCm39) missense probably benign 0.12
R3686:Or56b2 UTSW 7 104,337,599 (GRCm39) missense probably benign 0.00
R5140:Or56b2 UTSW 7 104,338,107 (GRCm39) missense probably benign 0.01
R5627:Or56b2 UTSW 7 104,337,377 (GRCm39) missense probably benign 0.02
R6338:Or56b2 UTSW 7 104,337,378 (GRCm39) missense possibly damaging 0.53
R8810:Or56b2 UTSW 7 104,337,387 (GRCm39) missense probably damaging 0.97
R8954:Or56b2 UTSW 7 104,337,900 (GRCm39) nonsense probably null
R9261:Or56b2 UTSW 7 104,337,260 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTCTTGTCTACATCCAACACTGTCAC -3'
(R):5'- GGATGGCATACATCTGAGCAAAGCAC -3'

Sequencing Primer
(F):5'- TGTCACACAGATAATCAGGACTG -3'
(R):5'- TCTGAGCAAAGCACTCAGGG -3'
Posted On 2014-01-29