Incidental Mutation 'IGL01653:Or5a3'
ID 102875
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: 0.109) question?
Stock # IGL01653
Quality Score
Status
Chromosome 19
Chromosomal Location 12399675-12400631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12399736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 21 (R21H)
Ref Sequence ENSEMBL: ENSMUSP00000150739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059033] [ENSMUST00000214153] [ENSMUST00000216506]
AlphaFold Q8VFV3
Predicted Effect probably benign
Transcript: ENSMUST00000059033
AA Change: R21H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: R21H

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 2.7e-52 PFAM
Pfam:7tm_1 42 313 5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214153
AA Change: R21H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216506
AA Change: R21H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,096,398 (GRCm39) D119G probably damaging Het
Apol7c A G 15: 77,410,500 (GRCm39) C149R probably damaging Het
Arfgef1 G A 1: 10,230,133 (GRCm39) R1235* probably null Het
Bpifb4 A G 2: 153,786,703 (GRCm39) D285G probably damaging Het
Cep192 T A 18: 67,986,043 (GRCm39) H1682Q possibly damaging Het
Cerk G T 15: 86,033,552 (GRCm39) Y290* probably null Het
Cyld A T 8: 89,467,998 (GRCm39) I544F probably damaging Het
Dcp1a T C 14: 30,227,528 (GRCm39) S134P possibly damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Ephb4 A G 5: 137,364,003 (GRCm39) probably benign Het
Fcgr3 A T 1: 170,886,849 (GRCm39) L25Q probably damaging Het
Heatr3 A G 8: 88,871,245 (GRCm39) I83V probably benign Het
Hormad1 T A 3: 95,485,608 (GRCm39) N265K possibly damaging Het
Kpna1 A G 16: 35,840,562 (GRCm39) T201A probably benign Het
Krt6b T A 15: 101,587,549 (GRCm39) T182S probably damaging Het
Macc1 A G 12: 119,414,088 (GRCm39) K755E probably damaging Het
Med12l C T 3: 59,169,314 (GRCm39) T1568M probably damaging Het
Muc4 G T 16: 32,581,722 (GRCm39) probably null Het
Myt1l T C 12: 29,960,770 (GRCm39) S1028P unknown Het
Nhlrc2 C T 19: 56,559,282 (GRCm39) R256C probably benign Het
Or4c123 T A 2: 89,127,471 (GRCm39) T48S probably benign Het
Pfkfb4 G A 9: 108,828,202 (GRCm39) R79H probably damaging Het
Piezo2 T C 18: 63,315,904 (GRCm39) probably benign Het
Pramel5 C T 4: 144,000,429 (GRCm39) R49H probably benign Het
Ralgapb T A 2: 158,304,079 (GRCm39) S613T possibly damaging Het
Ryr1 T C 7: 28,778,022 (GRCm39) E2158G probably damaging Het
Scgb2b19 T A 7: 32,979,153 (GRCm39) Y43F probably damaging Het
Slc17a6 A G 7: 51,317,770 (GRCm39) T468A possibly damaging Het
Slc36a1 A G 11: 55,119,147 (GRCm39) D374G possibly damaging Het
Wdtc1 T C 4: 133,022,543 (GRCm39) D601G probably damaging Het
Zfp1007 A C 5: 109,825,182 (GRCm39) Y89* probably null Het
Other mutations in Or5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Or5a3 APN 19 12,400,165 (GRCm39) missense possibly damaging 0.91
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 2014-01-21