Incidental Mutation 'IGL01596:Or3a1d'
ID 91939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or3a1d
Ensembl Gene ENSMUSG00000054406
Gene Name olfactory receptor family 3 subfamily A member 1D
Synonyms GA_x6K02T2P1NL-4481525-4480578, MOR255-3, Olfr411
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01596
Quality Score
Status
Chromosome 11
Chromosomal Location 74237450-74238498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74238245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 55 (E55G)
Ref Sequence ENSEMBL: ENSMUSP00000149978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080365] [ENSMUST00000141134] [ENSMUST00000214769]
AlphaFold Q7TRW8
Predicted Effect possibly damaging
Transcript: ENSMUST00000080365
AA Change: E55G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079235
Gene: ENSMUSG00000054406
AA Change: E55G

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 7.1e-58 PFAM
Pfam:7tm_1 44 293 8.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141134
Predicted Effect possibly damaging
Transcript: ENSMUST00000214769
AA Change: E55G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T C 3: 137,932,003 (GRCm39) S206P probably damaging Het
Arhgef10 G T 8: 15,049,468 (GRCm39) E869* probably null Het
C87436 T A 6: 86,423,201 (GRCm39) D258E probably damaging Het
Casp8ap2 A G 4: 32,646,365 (GRCm39) K1813E probably damaging Het
Cd209b T A 8: 3,968,744 (GRCm39) D304V probably damaging Het
Chmp2b T C 16: 65,359,363 (GRCm39) D11G probably benign Het
Comp A G 8: 70,831,285 (GRCm39) N384S probably damaging Het
Dbnl A G 11: 5,748,279 (GRCm39) Y336C probably damaging Het
Faf2 G T 13: 54,769,716 (GRCm39) Q21H probably null Het
Fam117b A T 1: 59,992,130 (GRCm39) K260* probably null Het
Gramd1b A G 9: 40,214,809 (GRCm39) L379P probably damaging Het
Iars1 A G 13: 49,856,652 (GRCm39) N302D probably benign Het
Kcnh6 C T 11: 105,917,572 (GRCm39) T702I probably benign Het
Kdelr2 A G 5: 143,398,330 (GRCm39) Y59C probably damaging Het
Mgam T C 6: 40,635,204 (GRCm39) Y300H probably damaging Het
Or4e1 C T 14: 52,700,822 (GRCm39) V215M probably damaging Het
Or4k40 A G 2: 111,251,237 (GRCm39) S20P probably benign Het
Pcdh17 T C 14: 84,685,632 (GRCm39) W700R probably damaging Het
Pigq T G 17: 26,146,660 (GRCm39) H615P possibly damaging Het
Pkhd1l1 T A 15: 44,392,806 (GRCm39) S1714T possibly damaging Het
Polr1b G T 2: 128,952,046 (GRCm39) R358I probably benign Het
Tmprss11a C A 5: 86,570,378 (GRCm39) V194F probably damaging Het
Trhr T C 15: 44,092,708 (GRCm39) I315T probably damaging Het
Ttc38 G A 15: 85,720,274 (GRCm39) V79M possibly damaging Het
Ubr4 T A 4: 139,189,845 (GRCm39) probably benign Het
Vmn2r45 T C 7: 8,486,272 (GRCm39) T339A probably damaging Het
Vps53 A G 11: 75,953,863 (GRCm39) F501S probably damaging Het
Other mutations in Or3a1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Or3a1d APN 11 74,238,255 (GRCm39) missense probably benign 0.00
IGL01308:Or3a1d APN 11 74,237,486 (GRCm39) missense probably damaging 1.00
IGL02233:Or3a1d APN 11 74,238,254 (GRCm39) missense possibly damaging 0.51
IGL03407:Or3a1d APN 11 74,238,371 (GRCm39) missense possibly damaging 0.47
R0371:Or3a1d UTSW 11 74,237,760 (GRCm39) missense probably damaging 0.99
R0924:Or3a1d UTSW 11 74,237,624 (GRCm39) missense probably damaging 1.00
R0926:Or3a1d UTSW 11 74,238,132 (GRCm39) missense probably benign 0.00
R1265:Or3a1d UTSW 11 74,237,766 (GRCm39) missense probably benign 0.00
R3712:Or3a1d UTSW 11 74,238,023 (GRCm39) missense probably damaging 1.00
R4446:Or3a1d UTSW 11 74,237,588 (GRCm39) missense probably benign 0.12
R4669:Or3a1d UTSW 11 74,237,789 (GRCm39) missense probably benign
R4851:Or3a1d UTSW 11 74,237,769 (GRCm39) missense probably benign
R4990:Or3a1d UTSW 11 74,238,023 (GRCm39) missense probably damaging 1.00
R4992:Or3a1d UTSW 11 74,238,023 (GRCm39) missense probably damaging 1.00
R5130:Or3a1d UTSW 11 74,237,993 (GRCm39) missense probably damaging 1.00
R5171:Or3a1d UTSW 11 74,237,640 (GRCm39) missense probably benign 0.08
R5240:Or3a1d UTSW 11 74,238,068 (GRCm39) missense probably damaging 1.00
R5346:Or3a1d UTSW 11 74,237,496 (GRCm39) missense probably benign 0.00
R5491:Or3a1d UTSW 11 74,237,740 (GRCm39) missense probably benign 0.07
R5723:Or3a1d UTSW 11 74,237,954 (GRCm39) missense possibly damaging 0.66
R6581:Or3a1d UTSW 11 74,238,032 (GRCm39) missense probably damaging 0.98
R7561:Or3a1d UTSW 11 74,238,436 (GRCm39) intron probably benign
R8881:Or3a1d UTSW 11 74,237,471 (GRCm39) missense probably benign 0.00
R9028:Or3a1d UTSW 11 74,237,747 (GRCm39) missense probably damaging 1.00
R9763:Or3a1d UTSW 11 74,238,041 (GRCm39) missense probably damaging 1.00
Z1177:Or3a1d UTSW 11 74,238,306 (GRCm39) missense possibly damaging 0.95
Posted On 2013-12-09