Incidental Mutation 'R5184:Or52a5'
ID 397756
Institutional Source Beutler Lab
Gene Symbol Or52a5
Ensembl Gene ENSMUSG00000061626
Gene Name olfactory receptor family 52 subfamily A member 5
Synonyms Olfr68, MOR22-3, GA_x6K02T2PBJ9-6504436-6503489, 3'[b]2
MMRRC Submission 042763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5184 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103426603-103427550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103426611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 314 (K314E)
Ref Sequence ENSEMBL: ENSMUSP00000150493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072513] [ENSMUST00000216811]
AlphaFold E9PYY2
Predicted Effect probably benign
Transcript: ENSMUST00000072513
AA Change: K314E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072329
Gene: ENSMUSG00000061626
AA Change: K314E

DomainStartEndE-ValueType
Pfam:7tm_4 33 313 3e-101 PFAM
Pfam:7TM_GPCR_Srx 34 237 4.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.7e-6 PFAM
Pfam:7tm_1 43 295 2.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216811
AA Change: K314E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (63/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aph1a T A 3: 95,803,051 (GRCm39) probably null Het
Arid3a A G 10: 79,786,603 (GRCm39) E452G possibly damaging Het
Barhl2 A G 5: 106,605,506 (GRCm39) S68P unknown Het
Carf T C 1: 60,147,333 (GRCm39) S17P probably damaging Het
Ccdc90b A G 7: 92,224,019 (GRCm39) D145G probably damaging Het
Cyp7a1 A T 4: 6,271,207 (GRCm39) N316K probably benign Het
Daam2 A G 17: 49,801,419 (GRCm39) I106T possibly damaging Het
Dmtf1 A G 5: 9,176,641 (GRCm39) V437A probably benign Het
E2f2 A T 4: 135,911,751 (GRCm39) Y254F possibly damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Ern2 T C 7: 121,779,182 (GRCm39) T221A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fermt1 A G 2: 132,783,883 (GRCm39) V42A possibly damaging Het
Fgf3 A G 7: 144,396,547 (GRCm39) D187G probably damaging Het
Flnb T A 14: 7,901,945 (GRCm38) V936E probably damaging Het
Herc2 T C 7: 55,772,099 (GRCm39) Y1093H probably damaging Het
Invs A G 4: 48,283,242 (GRCm39) probably benign Het
Katnb1 T A 8: 95,824,608 (GRCm39) I534N possibly damaging Het
Kcnq5 A T 1: 21,472,711 (GRCm39) D826E probably damaging Het
Klra9 A T 6: 130,165,675 (GRCm39) N113K probably benign Het
Knl1 A G 2: 118,899,657 (GRCm39) K453E probably damaging Het
Lgi4 C T 7: 30,770,182 (GRCm39) probably benign Het
Lpin3 A G 2: 160,739,058 (GRCm39) S289G probably benign Het
Mapre1 T A 2: 153,599,987 (GRCm39) V137E possibly damaging Het
Mark4 A G 7: 19,181,168 (GRCm39) F144L possibly damaging Het
Mogat2 G T 7: 98,872,842 (GRCm39) A114E possibly damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nell2 A G 15: 95,425,690 (GRCm39) L19P possibly damaging Het
Nfia A T 4: 97,671,585 (GRCm39) K98N probably damaging Het
Nutm1 T A 2: 112,079,345 (GRCm39) T857S possibly damaging Het
Or14a257 TG T 7: 86,138,499 (GRCm39) probably null Het
Or8g17 T A 9: 38,929,998 (GRCm39) I280F probably damaging Het
Pde10a T C 17: 9,195,987 (GRCm39) L706P probably damaging Het
Penk A G 4: 4,134,296 (GRCm39) L117P probably damaging Het
Pgap1 A G 1: 54,521,015 (GRCm39) S876P probably damaging Het
Pmfbp1 T C 8: 110,254,399 (GRCm39) I478T possibly damaging Het
Pole G A 5: 110,442,800 (GRCm39) E318K possibly damaging Het
Prr12 C A 7: 44,695,801 (GRCm39) V1222L unknown Het
Prune2 T C 19: 17,193,721 (GRCm39) S3070P possibly damaging Het
Rnf19a A G 15: 36,244,342 (GRCm39) C573R probably benign Het
Rp1l1 T C 14: 64,267,629 (GRCm39) S1072P probably damaging Het
Rskr T C 11: 78,183,573 (GRCm39) F194L probably benign Het
Semp2l1 A T 1: 32,584,729 (GRCm39) C394S probably damaging Het
Sh3pxd2a T C 19: 47,261,850 (GRCm39) N315S possibly damaging Het
Snph T C 2: 151,436,464 (GRCm39) I86V probably damaging Het
Sox6 A G 7: 115,376,463 (GRCm39) Y90H probably damaging Het
Tbc1d13 T A 2: 30,032,323 (GRCm39) C145S probably benign Het
Tcp11l1 T C 2: 104,530,289 (GRCm39) E65G probably damaging Het
Thrb G T 14: 18,011,181 (GRCm38) E186* probably null Het
Tmem101 A G 11: 102,047,059 (GRCm39) Y38H possibly damaging Het
Trarg1 T A 11: 76,571,134 (GRCm39) L50Q probably damaging Het
Urb1 A T 16: 90,580,162 (GRCm39) probably null Het
Usp10 G A 8: 120,683,420 (GRCm39) V764I possibly damaging Het
Usp25 A G 16: 76,906,115 (GRCm39) E857G probably benign Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdr35 T C 12: 9,068,142 (GRCm39) L775P probably damaging Het
Xpnpep1 T C 19: 53,001,845 (GRCm39) T134A probably benign Het
Zbtb10 T C 3: 9,329,731 (GRCm39) V363A probably damaging Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Other mutations in Or52a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Or52a5 APN 7 103,427,448 (GRCm39) missense probably benign
IGL03310:Or52a5 APN 7 103,426,634 (GRCm39) missense probably benign 0.04
R0135:Or52a5 UTSW 7 103,426,970 (GRCm39) missense probably damaging 0.99
R0462:Or52a5 UTSW 7 103,426,770 (GRCm39) missense probably benign 0.37
R0966:Or52a5 UTSW 7 103,426,656 (GRCm39) missense probably damaging 1.00
R1199:Or52a5 UTSW 7 103,427,192 (GRCm39) missense probably damaging 1.00
R1288:Or52a5 UTSW 7 103,427,249 (GRCm39) missense possibly damaging 0.94
R1597:Or52a5 UTSW 7 103,427,267 (GRCm39) missense probably benign
R4631:Or52a5 UTSW 7 103,426,682 (GRCm39) missense probably damaging 1.00
R4754:Or52a5 UTSW 7 103,426,875 (GRCm39) missense probably benign 0.00
R5654:Or52a5 UTSW 7 103,427,182 (GRCm39) missense probably damaging 1.00
R7994:Or52a5 UTSW 7 103,426,607 (GRCm39) missense probably benign 0.05
R8026:Or52a5 UTSW 7 103,427,547 (GRCm39) missense probably benign
R8190:Or52a5 UTSW 7 103,426,802 (GRCm39) missense probably damaging 1.00
R8502:Or52a5 UTSW 7 103,426,968 (GRCm39) missense probably benign
R8815:Or52a5 UTSW 7 103,427,063 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGAGTGTCAACCTGTTCCAAG -3'
(R):5'- ACATCTGTGTCTTCCTGCAG -3'

Sequencing Primer
(F):5'- GAGTGTCAACCTGTTCCAAGAATAG -3'
(R):5'- GCAGTTCTACCTTCTGGCC -3'
Posted On 2016-07-06