Incidental Mutation 'IGL01403:Olfr476'
ID79694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr476
Ensembl Gene ENSMUSG00000095301
Gene Nameolfactory receptor 476
SynonymsMOR204-3, GA_x6K02T2PBJ9-10296787-10297719
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01403
Quality Score
Status
Chromosome7
Chromosomal Location107964803-107969514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107967621 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
Ref Sequence ENSEMBL: ENSMUSP00000149760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077249] [ENSMUST00000217173]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077249
AA Change: T75A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076485
Gene: ENSMUSG00000095301
AA Change: T75A

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.7e-51 PFAM
Pfam:7tm_1 41 290 4.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217173
AA Change: T75A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,229,170 probably benign Het
Abcb5 A T 12: 118,872,867 L1103Q probably damaging Het
Adam12 T A 7: 133,919,610 Q605L probably benign Het
Adk A G 14: 21,234,915 K102R probably damaging Het
Afdn C T 17: 13,903,870 P1761S probably damaging Het
Ascc1 A G 10: 60,012,458 probably benign Het
Aspdh A G 7: 44,466,559 probably null Het
Bbx T C 16: 50,202,513 I753V probably benign Het
Ccdc33 T C 9: 58,117,385 Y186C probably damaging Het
Ccdc78 T A 17: 25,788,244 probably null Het
Ckmt1 T C 2: 121,362,966 probably benign Het
Csf1r A G 18: 61,114,825 T322A probably benign Het
Dnah7b T C 1: 46,116,300 probably benign Het
Dr1 A G 5: 108,269,710 N41D possibly damaging Het
Ehmt1 G A 2: 24,839,626 T633I possibly damaging Het
Fgf7 T A 2: 126,035,940 Y76N probably damaging Het
Hmcn1 A T 1: 150,593,097 W5038R probably damaging Het
Ighv14-1 A G 12: 113,932,242 V21A probably damaging Het
Igkv5-37 T A 6: 69,963,436 I75F probably damaging Het
Inhbc T A 10: 127,370,099 I100F probably damaging Het
Irs3 A G 5: 137,645,319 F68L probably damaging Het
Itpr3 T A 17: 27,118,595 C2460S probably damaging Het
Krt34 A G 11: 100,038,290 C365R possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ly6g A G 15: 75,158,648 N82S probably damaging Het
Mrpl58 A T 11: 115,406,578 I72F probably damaging Het
Myo9a G A 9: 59,871,563 R1534H probably damaging Het
Npat T A 9: 53,555,129 F239L probably benign Het
Nsd2 A G 5: 33,885,378 probably benign Het
Nuggc T C 14: 65,623,186 V427A probably benign Het
Olfr690 G A 7: 105,329,398 R265C probably benign Het
Pde4a A T 9: 21,205,116 I467F probably damaging Het
Pkhd1l1 T A 15: 44,483,833 C198* probably null Het
Pla2r1 A G 2: 60,424,288 V1312A probably damaging Het
Pola2 T C 19: 5,959,093 H79R probably benign Het
Pramef20 A T 4: 144,377,133 M141K probably benign Het
Psen2 A T 1: 180,234,983 probably benign Het
Rnf213 A G 11: 119,443,300 K3112E probably damaging Het
Slc6a4 G T 11: 77,031,672 V630L probably benign Het
Smg1 A T 7: 118,158,132 probably benign Het
Tmc8 A G 11: 117,791,074 T510A possibly damaging Het
Usp18 T A 6: 121,268,668 H334Q possibly damaging Het
Vmn2r103 T C 17: 19,792,967 Y117H probably benign Het
Vps13b T A 15: 35,709,479 D1857E probably benign Het
Other mutations in Olfr476
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Olfr476 APN 7 107967534 missense probably damaging 1.00
IGL01564:Olfr476 APN 7 107967991 missense probably benign 0.11
IGL01615:Olfr476 APN 7 107967937 missense probably damaging 1.00
IGL01777:Olfr476 APN 7 107967502 missense probably damaging 1.00
IGL01999:Olfr476 APN 7 107967468 missense probably benign
IGL02239:Olfr476 APN 7 107968047 missense probably damaging 1.00
R0636:Olfr476 UTSW 7 107967472 missense probably benign 0.00
R1986:Olfr476 UTSW 7 107967670 missense probably benign
R5109:Olfr476 UTSW 7 107967897 missense probably benign 0.06
R6363:Olfr476 UTSW 7 107967750 missense possibly damaging 0.57
R6526:Olfr476 UTSW 7 107967462 missense probably benign 0.03
R6907:Olfr476 UTSW 7 107968252 missense probably damaging 1.00
R7063:Olfr476 UTSW 7 107968204 missense probably benign
R7218:Olfr476 UTSW 7 107967667 missense probably benign
R7240:Olfr476 UTSW 7 107968188 missense probably benign 0.42
R7444:Olfr476 UTSW 7 107967604 missense probably damaging 0.99
R7939:Olfr476 UTSW 7 107967779 nonsense probably null
R8060:Olfr476 UTSW 7 107967405 missense probably benign
X0025:Olfr476 UTSW 7 107968188 missense possibly damaging 0.75
Posted On2013-11-05