Incidental Mutation 'IGL01693:Olfr76'
ID104183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr76
Ensembl Gene ENSMUSG00000067522
Gene Nameolfactory receptor 76
SynonymsMOR215-3, V5, GA_x6K02T2RE5P-2479601-2478648
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL01693
Quality Score
Status
Chromosome19
Chromosomal Location12117996-12123203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 12120557 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 40 (V40L)
Ref Sequence ENSEMBL: ENSMUSP00000149014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087822] [ENSMUST00000208391] [ENSMUST00000213471] [ENSMUST00000214103] [ENSMUST00000214676]
Predicted Effect probably benign
Transcript: ENSMUST00000087822
AA Change: V40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: V40L

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 9.2e-54 PFAM
Pfam:7tm_1 44 293 5.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208391
Predicted Effect probably benign
Transcript: ENSMUST00000213471
AA Change: V52L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214103
Predicted Effect probably benign
Transcript: ENSMUST00000214676
AA Change: V40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216205
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Olfr76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Olfr76 APN 19 12119876 missense probably damaging 1.00
R0360:Olfr76 UTSW 19 12119853 missense possibly damaging 0.84
R0399:Olfr76 UTSW 19 12120370 missense possibly damaging 0.67
R0467:Olfr76 UTSW 19 12120536 missense probably benign 0.01
R0750:Olfr76 UTSW 19 12120713 splice site probably null
R1432:Olfr76 UTSW 19 12120239 missense possibly damaging 0.56
R1535:Olfr76 UTSW 19 12120332 missense probably damaging 1.00
R4739:Olfr76 UTSW 19 12119870 missense possibly damaging 0.65
R4767:Olfr76 UTSW 19 12119936 missense probably damaging 1.00
R5032:Olfr76 UTSW 19 12120056 missense probably benign 0.00
R5367:Olfr76 UTSW 19 12120436 missense possibly damaging 0.90
R6363:Olfr76 UTSW 19 12120166 missense possibly damaging 0.60
R6426:Olfr76 UTSW 19 12119848 missense probably benign 0.04
R7162:Olfr76 UTSW 19 12120137 missense possibly damaging 0.60
R7224:Olfr76 UTSW 19 12120548 missense probably benign 0.00
R7565:Olfr76 UTSW 19 12120011 missense probably benign 0.01
R7739:Olfr76 UTSW 19 12120545 missense probably damaging 1.00
R7863:Olfr76 UTSW 19 12120610 missense possibly damaging 0.77
R8387:Olfr76 UTSW 19 12120421 missense probably damaging 1.00
Posted On2014-01-21