Incidental Mutation 'IGL01446:Or5a3'
ID 84410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5a3
Ensembl Gene ENSMUSG00000050815
Gene Name olfactory receptor family 5 subfamily A member 3
Synonyms MOR215-2, GA_x6K02T2RE5P-2753221-2754177, Olfr1441
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL01446
Quality Score
Status
Chromosome 19
Chromosomal Location 12399675-12400631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12400165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 164 (I164T)
Ref Sequence ENSEMBL: ENSMUSP00000150739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059033] [ENSMUST00000214153] [ENSMUST00000216506]
AlphaFold Q8VFV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000059033
AA Change: I164T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: I164T

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 2.7e-52 PFAM
Pfam:7tm_1 42 313 5e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214153
AA Change: I164T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216506
AA Change: I164T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,353,834 (GRCm39) T3719A probably damaging Het
Acaca A G 11: 84,151,457 (GRCm39) K785R probably damaging Het
Acsm3 G A 7: 119,377,677 (GRCm39) V401M probably damaging Het
Aff4 G T 11: 53,306,296 (GRCm39) R1146L probably damaging Het
Alms1 C A 6: 85,673,683 (GRCm39) P3562T probably damaging Het
Arsj A G 3: 126,232,463 (GRCm39) E403G probably benign Het
Baiap2l1 C T 5: 144,212,723 (GRCm39) V431I probably benign Het
Cecr2 T A 6: 120,735,560 (GRCm39) M904K probably benign Het
Cenpe A T 3: 134,943,300 (GRCm39) T775S probably benign Het
Dennd1b G A 1: 138,950,848 (GRCm39) E30K possibly damaging Het
Dnah5 A G 15: 28,326,815 (GRCm39) D2008G probably damaging Het
Dnm2 T C 9: 21,392,672 (GRCm39) V460A probably damaging Het
Ell2 G T 13: 75,910,110 (GRCm39) L285F probably benign Het
Erg A G 16: 95,162,141 (GRCm39) S322P probably damaging Het
Extl3 A G 14: 65,314,529 (GRCm39) F218L probably benign Het
Fzd9 T C 5: 135,279,420 (GRCm39) E155G probably damaging Het
Ghr A G 15: 3,362,837 (GRCm39) W212R probably damaging Het
Gulp1 A G 1: 44,783,708 (GRCm39) probably benign Het
Hdgfl2 C T 17: 56,404,281 (GRCm39) R332C possibly damaging Het
Lratd1 A T 12: 14,199,929 (GRCm39) I266N probably damaging Het
Nsd2 T C 5: 34,018,530 (GRCm39) probably benign Het
Or4c12 A G 2: 89,774,282 (GRCm39) F59S probably damaging Het
Or5b121 C T 19: 13,507,616 (GRCm39) T237I probably benign Het
Phf11b A C 14: 59,578,740 (GRCm39) S9A probably benign Het
Psd4 T C 2: 24,295,407 (GRCm39) S854P probably damaging Het
Reln C T 5: 22,174,315 (GRCm39) D1963N probably damaging Het
Rpe65 T A 3: 159,306,042 (GRCm39) probably benign Het
Sdccag8 T C 1: 176,672,811 (GRCm39) S235P probably damaging Het
Sgip1 G T 4: 102,786,110 (GRCm39) probably null Het
Skint5 G A 4: 113,800,019 (GRCm39) P36L probably damaging Het
Slc26a3 G T 12: 31,502,490 (GRCm39) probably benign Het
Snx13 T A 12: 35,174,479 (GRCm39) C669* probably null Het
Svil A T 18: 5,062,385 (GRCm39) T902S probably damaging Het
Syne2 T C 12: 76,088,149 (GRCm39) S4989P probably damaging Het
Ttn G A 2: 76,640,283 (GRCm39) T13775M probably damaging Het
Ubr4 T C 4: 139,165,351 (GRCm39) probably benign Het
Ush1c C T 7: 45,858,380 (GRCm39) R636H possibly damaging Het
Usp17lc A T 7: 103,067,651 (GRCm39) R315S probably benign Het
Vmn1r236 T A 17: 21,506,918 (GRCm39) V12D probably benign Het
Wsb2 T G 5: 117,509,229 (GRCm39) I170S probably damaging Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly damaging Het
Other mutations in Or5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Or5a3 APN 19 12,399,736 (GRCm39) missense probably benign
IGL01667:Or5a3 APN 19 12,400,120 (GRCm39) missense probably benign
IGL01903:Or5a3 APN 19 12,400,047 (GRCm39) missense probably benign 0.00
IGL02547:Or5a3 APN 19 12,399,675 (GRCm39) start codon destroyed probably benign 0.38
IGL02571:Or5a3 APN 19 12,400,250 (GRCm39) missense possibly damaging 0.79
IGL03310:Or5a3 APN 19 12,400,291 (GRCm39) missense probably benign
R0539:Or5a3 UTSW 19 12,400,173 (GRCm39) missense probably damaging 0.97
R0918:Or5a3 UTSW 19 12,400,599 (GRCm39) missense probably benign 0.25
R1463:Or5a3 UTSW 19 12,400,252 (GRCm39) missense probably benign 0.41
R4301:Or5a3 UTSW 19 12,400,081 (GRCm39) missense probably damaging 0.98
R4785:Or5a3 UTSW 19 12,400,341 (GRCm39) missense probably damaging 0.99
R5513:Or5a3 UTSW 19 12,400,047 (GRCm39) missense probably benign 0.00
R6188:Or5a3 UTSW 19 12,399,974 (GRCm39) missense probably benign 0.01
R6411:Or5a3 UTSW 19 12,400,350 (GRCm39) missense probably benign 0.08
R6625:Or5a3 UTSW 19 12,400,205 (GRCm39) missense probably damaging 1.00
R6944:Or5a3 UTSW 19 12,400,628 (GRCm39) missense probably benign
R7425:Or5a3 UTSW 19 12,400,204 (GRCm39) missense probably damaging 1.00
R7465:Or5a3 UTSW 19 12,400,509 (GRCm39) missense probably damaging 1.00
R9400:Or5a3 UTSW 19 12,400,274 (GRCm39) missense possibly damaging 0.62
R9427:Or5a3 UTSW 19 12,399,889 (GRCm39) missense
Posted On 2013-11-11