Incidental Mutation 'IGL02547:Or5a3'
ID 297862
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 # IGL02547
Quality Score
Status
Chromosome 19
Chromosomal Location 12399675-12400631 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 12399675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
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: M1L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216506
AA Change: M1L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Or5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Or5a3 APN 19 12,400,165 (GRCm39) missense possibly damaging 0.91
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
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 2015-04-16