Incidental Mutation 'IGL02193:Or6b1'
ID 283981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6b1
Ensembl Gene ENSMUSG00000049168
Gene Name olfactory receptor family 6 subfamily B member 1
Synonyms Olfr449, GA_x6K02T2P3E9-4722003-4721068, MOR103-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02193
Quality Score
Status
Chromosome 6
Chromosomal Location 42811350-42815816 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 42815753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050729] [ENSMUST00000204072] [ENSMUST00000204229] [ENSMUST00000214687]
AlphaFold Q8VGW8
Predicted Effect probably benign
Transcript: ENSMUST00000050729
SMART Domains Protein: ENSMUSP00000059233
Gene: ENSMUSG00000049168

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 2.7e-52 PFAM
Pfam:7tm_1 41 288 2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203135
SMART Domains Protein: ENSMUSP00000144965
Gene: ENSMUSG00000049168

DomainStartEndE-ValueType
Pfam:7tm_4 31 193 2.1e-32 PFAM
Pfam:7tm_1 41 193 7.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204072
Predicted Effect probably benign
Transcript: ENSMUST00000204229
SMART Domains Protein: ENSMUSP00000145055
Gene: ENSMUSG00000049168

DomainStartEndE-ValueType
Pfam:7tm_4 31 130 1.7e-20 PFAM
Pfam:7tm_1 41 130 2.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214687
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,572,815 (GRCm39) L812P probably damaging Het
Ankmy1 A T 1: 92,808,767 (GRCm39) F714I probably benign Het
Armh3 G T 19: 45,961,323 (GRCm39) T118K probably benign Het
Celf5 A G 10: 81,306,507 (GRCm39) I52T probably damaging Het
Clstn1 T C 4: 149,729,809 (GRCm39) V771A probably benign Het
Enpep G T 3: 129,075,336 (GRCm39) L661I possibly damaging Het
Faxc A G 4: 21,993,486 (GRCm39) N377D possibly damaging Het
Gabrb3 A G 7: 57,442,264 (GRCm39) E190G probably damaging Het
Gm4787 C T 12: 81,425,302 (GRCm39) M285I probably benign Het
Gm5900 A C 7: 104,599,231 (GRCm39) noncoding transcript Het
Gm6133 A G 18: 78,393,308 (GRCm39) N101D probably benign Het
Gtse1 A G 15: 85,746,531 (GRCm39) K116E probably benign Het
H2-D1 T G 17: 35,484,785 (GRCm39) H215Q possibly damaging Het
Hdc A T 2: 126,443,700 (GRCm39) probably benign Het
Hnrnph3 T C 10: 62,853,056 (GRCm39) H195R probably damaging Het
Ipo8 T C 6: 148,678,782 (GRCm39) T939A probably damaging Het
Irag1 A T 7: 110,498,162 (GRCm39) L411Q probably damaging Het
Krt79 G T 15: 101,848,340 (GRCm39) P104T possibly damaging Het
Lama4 A T 10: 38,918,670 (GRCm39) M384L probably benign Het
Lamb2 T G 9: 108,366,559 (GRCm39) D1590E probably benign Het
Ly6i A T 15: 74,854,879 (GRCm39) C10* probably null Het
Mamdc4 G A 2: 25,454,458 (GRCm39) A1082V probably benign Het
Nlrp4a T A 7: 26,159,117 (GRCm39) L799H probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or2y13 C T 11: 49,414,571 (GRCm39) T7I possibly damaging Het
Or5al6 A T 2: 85,977,059 (GRCm39) N6K probably benign Het
Otud6b T C 4: 14,812,543 (GRCm39) H268R probably damaging Het
Peg3 T C 7: 6,714,927 (GRCm39) E138G probably damaging Het
Phactr1 T C 13: 42,863,176 (GRCm39) probably benign Het
Psmf1 A G 2: 151,562,733 (GRCm39) probably benign Het
Rab32 T C 10: 10,422,199 (GRCm39) probably benign Het
Rfwd3 C T 8: 111,999,647 (GRCm39) probably benign Het
Scart2 A G 7: 139,828,913 (GRCm39) T191A probably benign Het
Slc25a3 A G 10: 90,953,977 (GRCm39) V245A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc1 A G 18: 9,992,863 (GRCm39) D545G probably benign Het
Tpst1 T A 5: 130,130,737 (GRCm39) M69K possibly damaging Het
Trank1 T C 9: 111,196,344 (GRCm39) V1456A probably benign Het
Trappc6a T A 7: 19,249,144 (GRCm39) C124S possibly damaging Het
Tsc22d2 T A 3: 58,367,628 (GRCm39) probably benign Het
Other mutations in Or6b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01904:Or6b1 APN 6 42,815,223 (GRCm39) missense possibly damaging 0.76
IGL02496:Or6b1 APN 6 42,815,738 (GRCm39) missense probably benign 0.00
IGL03302:Or6b1 APN 6 42,814,937 (GRCm39) nonsense probably null
IGL03333:Or6b1 APN 6 42,815,637 (GRCm39) missense possibly damaging 0.95
R1340:Or6b1 UTSW 6 42,814,943 (GRCm39) missense probably benign 0.00
R1926:Or6b1 UTSW 6 42,815,247 (GRCm39) missense probably damaging 1.00
R2418:Or6b1 UTSW 6 42,814,983 (GRCm39) missense probably benign 0.03
R4837:Or6b1 UTSW 6 42,814,783 (GRCm39) splice site probably null
R5466:Or6b1 UTSW 6 42,815,027 (GRCm39) missense probably benign 0.08
R5733:Or6b1 UTSW 6 42,815,180 (GRCm39) missense probably damaging 0.97
R6411:Or6b1 UTSW 6 42,815,654 (GRCm39) missense possibly damaging 0.57
R6626:Or6b1 UTSW 6 42,815,582 (GRCm39) missense probably benign 0.14
R6912:Or6b1 UTSW 6 42,815,736 (GRCm39) missense probably benign
R7278:Or6b1 UTSW 6 42,811,330 (GRCm39) splice site probably null
R7399:Or6b1 UTSW 6 42,815,680 (GRCm39) nonsense probably null
R7703:Or6b1 UTSW 6 42,814,938 (GRCm39) missense probably damaging 1.00
R8325:Or6b1 UTSW 6 42,815,124 (GRCm39) missense probably damaging 1.00
R9182:Or6b1 UTSW 6 42,815,010 (GRCm39) missense probably benign 0.05
Z1176:Or6b1 UTSW 6 42,814,911 (GRCm39) missense probably damaging 1.00
Z1177:Or6b1 UTSW 6 42,815,310 (GRCm39) missense probably benign
Posted On 2015-04-16