Incidental Mutation 'IGL01951:Or6b3'
ID 181035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6b3
Ensembl Gene ENSMUSG00000042849
Gene Name olfactory receptor family 6 subfamily B member 3
Synonyms MOR103-2, GA_x6K02T2R7CC-81245243-81246181, Olfr1414
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01951
Quality Score
Status
Chromosome 1
Chromosomal Location 92438770-92446237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92438853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 299 (D299G)
Ref Sequence ENSEMBL: ENSMUSP00000140956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062353] [ENSMUST00000189174]
AlphaFold Q8VGU5
Predicted Effect probably benign
Transcript: ENSMUST00000062353
AA Change: D299G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054752
Gene: ENSMUSG00000042849
AA Change: D299G

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4.7e-52 PFAM
Pfam:7tm_1 41 290 5.7e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000189174
AA Change: D299G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140956
Gene: ENSMUSG00000042849
AA Change: D299G

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
Pfam:7tm_1 41 290 4.2e-25 PFAM
Pfam:7tm_4 139 283 4.3e-42 PFAM
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Or6b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Or6b3 APN 1 92,438,974 (GRCm39) missense probably damaging 1.00
IGL02748:Or6b3 APN 1 92,439,189 (GRCm39) missense probably damaging 1.00
R1451:Or6b3 UTSW 1 92,439,517 (GRCm39) missense possibly damaging 0.78
R1926:Or6b3 UTSW 1 92,439,330 (GRCm39) missense probably damaging 0.98
R1978:Or6b3 UTSW 1 92,439,499 (GRCm39) missense probably damaging 1.00
R2507:Or6b3 UTSW 1 92,439,100 (GRCm39) missense probably damaging 1.00
R4820:Or6b3 UTSW 1 92,438,812 (GRCm39) makesense probably null
R7205:Or6b3 UTSW 1 92,439,573 (GRCm39) missense probably benign 0.04
R7258:Or6b3 UTSW 1 92,438,898 (GRCm39) missense possibly damaging 0.67
R7366:Or6b3 UTSW 1 92,439,400 (GRCm39) missense possibly damaging 0.88
R7467:Or6b3 UTSW 1 92,439,570 (GRCm39) missense possibly damaging 0.79
R9119:Or6b3 UTSW 1 92,438,904 (GRCm39) missense probably damaging 0.99
R9239:Or6b3 UTSW 1 92,439,454 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07