Incidental Mutation 'R5513:Or5a3'
ID 440203
Institutional Source Beutler Lab
Gene Symbol Or5a3
Ensembl Gene ENSMUSG00000050815
Gene Name olfactory receptor family 5 subfamily A member 3
Synonyms MOR215-2, GA_x6K02T2RE5P-2753221-2754177, Olfr1441
MMRRC Submission 043073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5513 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12399675-12400631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12400047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 125 (V125I)
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: V125I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: V125I

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: V125I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216506
AA Change: V125I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (59/61)
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
Abtb2 A T 2: 103,539,623 (GRCm39) probably null Het
Akr1b1 C A 6: 34,293,581 (GRCm39) probably benign Het
Alppl2 T A 1: 87,015,060 (GRCm39) N434Y probably benign Het
Ampd2 A G 3: 107,982,983 (GRCm39) I648T possibly damaging Het
Ankrd11 T C 8: 123,619,259 (GRCm39) E1510G probably benign Het
Ano2 A C 6: 126,016,285 (GRCm39) K939N possibly damaging Het
Arhgef5 A G 6: 43,249,273 (GRCm39) Y8C probably damaging Het
Aspm A T 1: 139,410,136 (GRCm39) I2609F probably damaging Het
Camsap2 A T 1: 136,208,601 (GRCm39) S964T probably benign Het
Cd22 C T 7: 30,566,450 (GRCm39) R823Q probably damaging Het
Cd74 T C 18: 60,944,377 (GRCm39) C196R probably damaging Het
Cfap73 A T 5: 120,769,777 (GRCm39) I82N probably damaging Het
Cidec A T 6: 113,405,140 (GRCm39) Y177N probably damaging Het
Crb1 C T 1: 139,164,559 (GRCm39) probably null Het
Cts7 T C 13: 61,503,398 (GRCm39) K189E possibly damaging Het
Cyp2c68 A T 19: 39,691,850 (GRCm39) Y358N probably damaging Het
Dab2ip A T 2: 35,600,266 (GRCm39) H294L probably benign Het
Dnah6 T C 6: 73,167,402 (GRCm39) D502G probably null Het
Dnah8 T A 17: 30,971,890 (GRCm39) M2768K probably damaging Het
Etl4 C A 2: 20,748,638 (GRCm39) S405R probably damaging Het
Fsip2 G T 2: 82,781,252 (GRCm39) L19F probably damaging Het
Fsip2 T A 2: 82,815,542 (GRCm39) N3758K possibly damaging Het
Fsip2 C G 2: 82,781,256 (GRCm39) Q217E probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Hivep2 A T 10: 14,008,417 (GRCm39) K1672* probably null Het
Igkv2-137 G A 6: 67,532,998 (GRCm39) G54S possibly damaging Het
Ints8 A G 4: 11,248,303 (GRCm39) V105A possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Lrrc8b A G 5: 105,633,850 (GRCm39) K774R probably damaging Het
Mcm4 T A 16: 15,448,378 (GRCm39) Y393F probably benign Het
Mki67 A G 7: 135,309,479 (GRCm39) L324P probably damaging Het
Or4d6 A G 19: 12,086,745 (GRCm39) L55P probably damaging Het
Or52n3 A T 7: 104,530,706 (GRCm39) H264L probably damaging Het
Or9s13 T C 1: 92,548,102 (GRCm39) V158A probably benign Het
Pld4 A G 12: 112,728,988 (GRCm39) E19G probably benign Het
Plvap T C 8: 71,964,173 (GRCm39) E63G probably damaging Het
Ppig A G 2: 69,580,703 (GRCm39) T746A probably benign Het
Prdm2 GCTCCTCCTCCTCCTCCTCCTCCTC GCTCCTCCTCCTCCTCCTCCTC 4: 142,862,463 (GRCm39) probably benign Het
Rbm15b A G 9: 106,763,316 (GRCm39) L284P probably benign Het
Relch G A 1: 105,678,698 (GRCm39) V1130I probably damaging Het
Rhbdl3 T C 11: 80,222,668 (GRCm39) V239A probably damaging Het
Sae1 T C 7: 16,100,781 (GRCm39) E197G probably benign Het
Sdhaf2 C T 19: 10,494,394 (GRCm39) R105H probably damaging Het
Senp3 T C 11: 69,567,965 (GRCm39) D425G probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc46a1 T C 11: 78,357,376 (GRCm39) F143S probably benign Het
Tom1 T A 8: 75,783,848 (GRCm39) N52K probably damaging Het
Vmn1r11 A T 6: 57,114,617 (GRCm39) T94S probably damaging Het
Zfp236 A G 18: 82,676,147 (GRCm39) I390T probably damaging Het
Zfp709 A T 8: 72,643,900 (GRCm39) H443L probably damaging Het
Zfp960 C T 17: 17,307,996 (GRCm39) P237S possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GATCAGGATGGACTCACACC -3'
(R):5'- TTAGGGGTGGCAAGTCACAG -3'

Sequencing Primer
(F):5'- GGATGGACTCACACCTCCACTC -3'
(R):5'- TTGGATCAAGCCAGTGAG -3'
Posted On 2016-11-08