Incidental Mutation 'R8068:Or5ap2'
ID 620089
Institutional Source Beutler Lab
Gene Symbol Or5ap2
Ensembl Gene ENSMUSG00000046975
Gene Name olfactory receptor family 5 subfamily AP member 2
Synonyms Olfr1020, MOR201-2, GA_x6K02T2Q125-47327964-47328917
MMRRC Submission 067503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R8068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 85679764-85680842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85680150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 118 (E118G)
Ref Sequence ENSEMBL: ENSMUSP00000150285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055840] [ENSMUST00000213515] [ENSMUST00000215347]
AlphaFold Q8VFK7
Predicted Effect probably damaging
Transcript: ENSMUST00000055840
AA Change: E118G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058242
Gene: ENSMUSG00000046975
AA Change: E118G

DomainStartEndE-ValueType
Pfam:7tm_4 38 315 5.6e-55 PFAM
Pfam:7tm_1 48 297 1.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213515
Predicted Effect probably damaging
Transcript: ENSMUST00000215347
AA Change: E118G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 41,278,975 (GRCm39) D455E not run Het
Aldoc T C 11: 78,215,553 (GRCm39) F79S possibly damaging Het
Atmin A G 8: 117,683,389 (GRCm39) S350G probably benign Het
Bms1 A G 6: 118,390,711 (GRCm39) F206S probably damaging Het
Carmil1 T A 13: 24,259,711 (GRCm39) I698L probably benign Het
Cd47 T A 16: 49,715,779 (GRCm39) S182T Het
Ces2e G T 8: 105,659,629 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,229 (GRCm39) S373G not run Het
Cit C A 5: 116,090,525 (GRCm39) H906Q probably damaging Het
Cit T C 5: 116,120,294 (GRCm39) S1370P probably benign Het
Dchs2 T C 3: 83,207,745 (GRCm39) F1739L probably benign Het
Dlx4 T C 11: 95,036,156 (GRCm39) Y51C possibly damaging Het
Drosha T A 15: 12,883,276 (GRCm39) Y796* probably null Het
Elf1 T A 14: 79,773,830 (GRCm39) F14I probably benign Het
Fam135b T C 15: 71,404,827 (GRCm39) Q73R probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gls2 C G 10: 128,030,983 (GRCm39) R81G unknown Het
Hnrnpll T C 17: 80,358,281 (GRCm39) M157V possibly damaging Het
Itgb3 T A 11: 104,556,337 (GRCm39) M726K probably benign Het
Kcna10 T G 3: 107,101,726 (GRCm39) M119R possibly damaging Het
Kcnh1 A G 1: 191,924,250 (GRCm39) T155A probably benign Het
Kctd9 T A 14: 67,962,111 (GRCm39) D51E unknown Het
Lgr6 T C 1: 134,991,402 (GRCm39) I129V probably benign Het
Lrrfip1 A T 1: 91,055,824 (GRCm39) D598V probably damaging Het
Ltbp4 G T 7: 27,023,593 (GRCm39) Q850K probably damaging Het
Mdm1 A G 10: 117,982,709 (GRCm39) R115G possibly damaging Het
Mns1 A C 9: 72,355,809 (GRCm39) probably null Het
Mthfs G A 9: 89,093,288 (GRCm39) R14Q probably damaging Het
Muc2 T A 7: 141,298,422 (GRCm39) S25T Het
Ncapd3 T C 9: 26,974,657 (GRCm39) S710P possibly damaging Het
Nrip1 T A 16: 76,089,841 (GRCm39) H572L possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Opa3 A G 7: 18,978,910 (GRCm39) E125G probably damaging Het
Or52p1 T A 7: 104,267,460 (GRCm39) C191* probably null Het
Or5w19 A G 2: 87,698,995 (GRCm39) Y220C probably benign Het
P3h1 A G 4: 119,094,059 (GRCm39) Y238C probably damaging Het
Pappa2 T C 1: 158,763,555 (GRCm39) D652G possibly damaging Het
Pcdha11 T A 18: 37,138,618 (GRCm39) N82K probably damaging Het
Pde4b T C 4: 102,453,212 (GRCm39) I293T probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Qki T C 17: 10,537,732 (GRCm39) D24G possibly damaging Het
Rbpjl A G 2: 164,250,438 (GRCm39) K197E possibly damaging Het
Rnf111 A T 9: 70,365,223 (GRCm39) S415T probably benign Het
Scyl1 A G 19: 5,810,853 (GRCm39) V488A probably damaging Het
Slc1a6 G C 10: 78,648,706 (GRCm39) V476L possibly damaging Het
Slc22a17 A T 14: 55,146,365 (GRCm39) F84I probably benign Het
Slc22a4 A C 11: 53,888,269 (GRCm39) I253S possibly damaging Het
Speer2 T C 16: 69,657,412 (GRCm39) H77R possibly damaging Het
Speg T C 1: 75,398,894 (GRCm39) S2114P probably damaging Het
Synpo2 T A 3: 122,911,041 (GRCm39) R201S possibly damaging Het
Ttpa C A 4: 20,028,419 (GRCm39) H225Q probably damaging Het
Vmn1r45 A T 6: 89,910,261 (GRCm39) H236Q possibly damaging Het
Vmn2r7 A T 3: 64,623,507 (GRCm39) V271D probably benign Het
Zfp53 A T 17: 21,729,274 (GRCm39) T436S probably benign Het
Other mutations in Or5ap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02203:Or5ap2 APN 2 85,680,432 (GRCm39) missense probably damaging 1.00
R0419:Or5ap2 UTSW 2 85,680,311 (GRCm39) nonsense probably null
R0771:Or5ap2 UTSW 2 85,680,338 (GRCm39) missense possibly damaging 0.95
R2001:Or5ap2 UTSW 2 85,680,744 (GRCm39) missense probably benign 0.09
R2002:Or5ap2 UTSW 2 85,680,744 (GRCm39) missense probably benign 0.09
R4865:Or5ap2 UTSW 2 85,680,060 (GRCm39) missense probably damaging 1.00
R4930:Or5ap2 UTSW 2 85,680,237 (GRCm39) missense probably benign 0.00
R6717:Or5ap2 UTSW 2 85,680,567 (GRCm39) missense probably damaging 1.00
R7124:Or5ap2 UTSW 2 85,680,254 (GRCm39) missense probably benign 0.22
R8298:Or5ap2 UTSW 2 85,680,533 (GRCm39) missense probably damaging 1.00
R8676:Or5ap2 UTSW 2 85,680,246 (GRCm39) missense probably benign 0.03
R8927:Or5ap2 UTSW 2 85,679,918 (GRCm39) missense possibly damaging 0.91
R8928:Or5ap2 UTSW 2 85,679,918 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ATCTACACGATGACACTGGTGG -3'
(R):5'- ACAGTCTGAAAGTCATCCCTG -3'

Sequencing Primer
(F):5'- TAAGATTGACCGCAGTCTGC -3'
(R):5'- CTGAAAGTCATCCCTGTGTGG -3'
Posted On 2020-01-23