Incidental Mutation 'R1463:Or5a3'
ID 159277
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 039517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1463 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12399675-12400631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12400252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 193 (T193I)
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: T193I

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: T193I

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: T193I

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216506
AA Change: T193I

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.4715 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 97% (97/100)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,384 (GRCm39) I299N probably damaging Het
Abcc8 T C 7: 45,803,936 (GRCm39) T413A probably benign Het
Actc1 G A 2: 113,880,010 (GRCm39) S201F probably damaging Het
Adam30 G A 3: 98,069,841 (GRCm39) C558Y probably damaging Het
Adcy4 T A 14: 56,016,396 (GRCm39) I352F probably damaging Het
Adgrl4 A T 3: 151,216,233 (GRCm39) D472V probably damaging Het
Afap1l2 T A 19: 56,918,583 (GRCm39) M117L probably benign Het
AI597479 T C 1: 43,152,389 (GRCm39) V229A probably damaging Het
Ascc1 T C 10: 59,898,338 (GRCm39) V267A probably benign Het
Asxl3 A G 18: 22,649,810 (GRCm39) S600G possibly damaging Het
Atg14 T C 14: 47,786,451 (GRCm39) I268V probably benign Het
Bcas1 C T 2: 170,260,584 (GRCm39) V32I probably benign Het
Cacna1c G T 6: 118,570,955 (GRCm39) D2106E probably benign Het
Cacna1i A G 15: 80,263,255 (GRCm39) H1440R possibly damaging Het
Catsper2 G A 2: 121,236,927 (GRCm39) T240M probably damaging Het
Ccn4 T A 15: 66,791,120 (GRCm39) N307K possibly damaging Het
Cd163 A G 6: 124,288,406 (GRCm39) E279G probably damaging Het
Cdx2 C T 5: 147,243,470 (GRCm39) S108N probably benign Het
Cenpf A T 1: 189,386,936 (GRCm39) N1781K probably damaging Het
Cgref1 T A 5: 31,093,338 (GRCm39) probably benign Het
Clcn4 C T 7: 7,299,763 (GRCm39) W22* probably null Het
Cntn2 A G 1: 132,448,875 (GRCm39) probably null Het
Cntn5 C T 9: 9,673,801 (GRCm39) probably null Het
Cpeb3 A G 19: 37,116,500 (GRCm39) M377T probably benign Het
Cryge T A 1: 65,087,997 (GRCm39) R135* probably null Het
Ctdsp2 C A 10: 126,829,790 (GRCm39) probably benign Het
Ctsll3 G A 13: 60,949,089 (GRCm39) probably benign Het
Cuzd1 C A 7: 130,918,371 (GRCm39) G189C probably damaging Het
Dmbt1 T A 7: 130,711,366 (GRCm39) probably null Het
Dnai4 T A 4: 102,944,615 (GRCm39) L245F possibly damaging Het
Dnajc13 A T 9: 104,056,139 (GRCm39) S1587R probably damaging Het
Dock4 GCTCAGTGTATC GC 12: 40,866,324 (GRCm39) probably null Het
Dock6 T C 9: 21,743,202 (GRCm39) H701R probably damaging Het
Edem3 A G 1: 151,683,261 (GRCm39) T646A possibly damaging Het
Esrra A C 19: 6,889,823 (GRCm39) D160E probably benign Het
Fbn2 T C 18: 58,143,452 (GRCm39) T2868A probably benign Het
Galnt7 T A 8: 58,105,892 (GRCm39) M41L probably benign Het
Gbf1 T C 19: 46,259,984 (GRCm39) probably benign Het
Glyat A G 19: 12,625,467 (GRCm39) N63S probably damaging Het
Gm9376 A T 14: 118,504,894 (GRCm39) M109L probably benign Het
H2-M10.3 A G 17: 36,677,612 (GRCm39) V222A probably damaging Het
Ifna12 T G 4: 88,521,193 (GRCm39) D118A possibly damaging Het
Inpp5j T C 11: 3,451,147 (GRCm39) M501V probably benign Het
Itpr3 C T 17: 27,336,128 (GRCm39) probably benign Het
Ivns1abp A G 1: 151,237,291 (GRCm39) N527S probably benign Het
Kif13a T C 13: 47,083,088 (GRCm39) T4A possibly damaging Het
Kif3b T C 2: 153,172,073 (GRCm39) *748Q probably null Het
Klf8 C T X: 152,167,677 (GRCm39) Q241* probably null Het
Kras A T 6: 145,170,787 (GRCm39) probably benign Het
Lamc3 C A 2: 31,777,423 (GRCm39) T23K probably benign Het
Lrrc74b T A 16: 17,377,737 (GRCm39) H47L probably benign Het
Ly75 A G 2: 60,199,101 (GRCm39) probably null Het
Map3k21 G A 8: 126,668,876 (GRCm39) G821S probably benign Het
Mettl14 A G 3: 123,167,722 (GRCm39) probably benign Het
Mettl5 T C 2: 69,715,590 (GRCm39) probably benign Het
Mier3 A G 13: 111,848,289 (GRCm39) D301G probably damaging Het
Mipep T C 14: 61,025,595 (GRCm39) probably benign Het
Mmp21 T C 7: 133,277,588 (GRCm39) probably null Het
Msh4 A G 3: 153,563,207 (GRCm39) L723P probably damaging Het
Muc5b T C 7: 141,412,817 (GRCm39) V1921A unknown Het
Myo1e G A 9: 70,246,038 (GRCm39) E410K possibly damaging Het
Nav2 T G 7: 49,185,710 (GRCm39) I951S probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Or10j3 A G 1: 173,030,934 (GRCm39) K4E probably benign Het
Or2ab1 A G 11: 58,488,947 (GRCm39) R242G probably damaging Het
Pacc1 T C 1: 191,060,486 (GRCm39) probably benign Het
Patl2 C T 2: 121,954,216 (GRCm39) V452M probably benign Het
Pcdh18 A G 3: 49,709,854 (GRCm39) V487A probably damaging Het
Pdzph1 C T 17: 59,239,440 (GRCm39) A963T probably damaging Het
Pkd1l1 C T 11: 8,866,302 (GRCm39) V518M probably damaging Het
Plcd3 A G 11: 102,969,199 (GRCm39) F256S probably damaging Het
Proc T C 18: 32,266,491 (GRCm39) D112G possibly damaging Het
Ptges2 T A 2: 32,290,874 (GRCm39) probably null Het
Pth2r A T 1: 65,402,436 (GRCm39) R312W probably damaging Het
Pttg1ip2 C A 5: 5,502,073 (GRCm39) probably benign Het
Rbbp6 C T 7: 122,591,676 (GRCm39) H546Y possibly damaging Het
Retreg2 A G 1: 75,123,164 (GRCm39) E364G probably damaging Het
Rxrb G A 17: 34,253,134 (GRCm39) C185Y probably damaging Het
Septin2 T A 1: 93,427,037 (GRCm39) N133K possibly damaging Het
Serpina3b T A 12: 104,104,969 (GRCm39) S382T probably benign Het
Serpinb9e T C 13: 33,439,099 (GRCm39) F175S probably benign Het
Slc19a2 C T 1: 164,084,766 (GRCm39) H219Y probably damaging Het
Slfn9 A T 11: 82,872,524 (GRCm39) D737E possibly damaging Het
Snx31 T C 15: 36,539,444 (GRCm39) E144G probably null Het
Sp2 A G 11: 96,854,282 (GRCm39) probably benign Het
Spag9 C T 11: 94,007,663 (GRCm39) L1117F probably damaging Het
Spata31e2 G T 1: 26,721,222 (GRCm39) Y1319* probably null Het
Syndig1l A T 12: 84,727,137 (GRCm39) probably benign Het
Sypl1 A T 12: 33,024,332 (GRCm39) probably benign Het
Tmem169 T C 1: 72,339,855 (GRCm39) M95T probably benign Het
Tnfrsf17 A G 16: 11,133,066 (GRCm39) Y48C possibly damaging Het
Ttn A T 2: 76,657,859 (GRCm39) probably benign Het
Uap1 G C 1: 169,977,952 (GRCm39) H366Q probably benign Het
Ulbp1 A G 10: 7,396,557 (GRCm39) probably benign Het
Urb2 T C 8: 124,757,647 (GRCm39) V1118A probably benign Het
Usp54 T C 14: 20,600,258 (GRCm39) N1493S probably benign Het
Vmn1r129 C A 7: 21,094,655 (GRCm39) V188F probably benign Het
Vmn1r226 A T 17: 20,907,994 (GRCm39) L75F probably benign Het
Yes1 T A 5: 32,809,046 (GRCm39) S137R probably benign Het
Zfp804b A G 5: 7,229,372 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGATCAGGATGGACTCACACCTCC -3'
(R):5'- GGTTCAACATGGGAATCACTGCACC -3'

Sequencing Primer
(F):5'- CTTTAGGGAGCAGAAGTCTATCACC -3'
(R):5'- TCCTGTGAGTATCCAGCATTAG -3'
Posted On 2014-03-14