Incidental Mutation 'IGL01736:Or2b2b'
ID 105692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2b2b
Ensembl Gene ENSMUSG00000108534
Gene Name olfactory receptor family 2 subfamily B member 2B
Synonyms MOR256-10, MOR256-35, GA_x6K02T2QHY8-11561962-11562903, Olfr1360
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL01736
Quality Score
Status
Chromosome 13
Chromosomal Location 21858171-21859150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21858787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 109 (C109F)
Ref Sequence ENSEMBL: ENSMUSP00000149423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077843] [ENSMUST00000079135] [ENSMUST00000205788] [ENSMUST00000216083]
AlphaFold K9J6X0
Predicted Effect probably benign
Transcript: ENSMUST00000077843
AA Change: C109F
SMART Domains Protein: ENSMUSP00000077010
Gene: ENSMUSG00000108674
AA Change: C109F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2e-55 PFAM
Pfam:7tm_1 41 290 1.7e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079135
AA Change: C109F

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000074361
Gene: ENSMUSG00000108534
AA Change: C109F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3e-55 PFAM
Pfam:7tm_1 41 290 1.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205788
AA Change: C109F

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000216083
AA Change: C109F

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S probably benign Het
Other mutations in Or2b2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02886:Or2b2b APN 13 21,859,122 (GRCm39) utr 5 prime probably benign
IGL03157:Or2b2b APN 13 21,859,112 (GRCm39) start codon destroyed probably null 0.48
R1540:Or2b2b UTSW 13 21,858,700 (GRCm39) missense probably benign 0.11
R1756:Or2b2b UTSW 13 21,858,865 (GRCm39) missense probably benign 0.00
R1843:Or2b2b UTSW 13 21,858,842 (GRCm39) missense probably benign 0.00
R3793:Or2b2b UTSW 13 21,859,153 (GRCm39) splice site probably null
R5707:Or2b2b UTSW 13 21,858,769 (GRCm39) missense probably damaging 1.00
R7566:Or2b2b UTSW 13 21,858,737 (GRCm39) missense possibly damaging 0.61
R8781:Or2b2b UTSW 13 21,859,013 (GRCm39) missense probably damaging 1.00
R8849:Or2b2b UTSW 13 21,858,226 (GRCm39) missense possibly damaging 0.67
R9070:Or2b2b UTSW 13 21,858,985 (GRCm39) missense probably benign 0.03
R9462:Or2b2b UTSW 13 21,859,015 (GRCm39) missense probably benign 0.19
Z1177:Or2b2b UTSW 13 21,859,324 (GRCm39) start gained probably benign
Posted On 2014-01-21