Incidental Mutation 'R8676:Or5ap2'
ID 661366
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 068531-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R8676 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85679764-85680842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85680246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 150 (M150K)
Ref Sequence ENSEMBL: ENSMUSP00000150285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055840] [ENSMUST00000213515] [ENSMUST00000215347]
AlphaFold Q8VFK7
Predicted Effect probably benign
Transcript: ENSMUST00000055840
AA Change: M150K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000058242
Gene: ENSMUSG00000046975
AA Change: M150K

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 benign
Transcript: ENSMUST00000215347
AA Change: M150K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (54/58)
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
Aadacl4fm4 G A 4: 144,396,683 (GRCm39) R350C possibly damaging Het
Acsm3 T A 7: 119,374,392 (GRCm39) S281R probably damaging Het
Adipor2 G T 6: 119,340,447 (GRCm39) probably benign Het
Alk T C 17: 72,204,936 (GRCm39) S1079G probably damaging Het
Ankrd27 T C 7: 35,302,009 (GRCm39) probably null Het
Anxa6 C A 11: 54,892,108 (GRCm39) E283* probably null Het
Bnc2 T C 4: 84,194,550 (GRCm39) H858R possibly damaging Het
Btnl6 T C 17: 34,727,043 (GRCm39) S496G probably benign Het
Ccdc88a T C 11: 29,410,860 (GRCm39) S449P probably benign Het
Cdh23 A T 10: 60,246,689 (GRCm39) D916E probably damaging Het
Cfap43 A T 19: 47,736,456 (GRCm39) L1345H possibly damaging Het
Cyld A T 8: 89,456,138 (GRCm39) H396L probably benign Het
Cyp20a1 A G 1: 60,418,579 (GRCm39) T340A possibly damaging Het
Czib A G 4: 107,752,796 (GRCm39) N152D unknown Het
Dera A T 6: 137,807,202 (GRCm39) I217F probably damaging Het
Dnah11 A G 12: 118,154,539 (GRCm39) L247P probably damaging Het
Eftud2 G A 11: 102,759,447 (GRCm39) T152M probably damaging Het
Entrep1 T C 19: 23,965,858 (GRCm39) K214E probably damaging Het
Epb41l2 C T 10: 25,319,674 (GRCm39) T169M probably benign Het
Fam186a T C 15: 99,845,023 (GRCm39) D407G unknown Het
Gli3 T A 13: 15,889,619 (GRCm39) C578S probably damaging Het
Gm6408 A G 5: 146,419,237 (GRCm39) N84S probably benign Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Herc2 C A 7: 55,838,361 (GRCm39) T3296K probably damaging Het
Hnf4g A T 3: 3,708,133 (GRCm39) probably benign Het
Hyal4 C A 6: 24,755,826 (GRCm39) Q15K probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcna3 A G 3: 106,943,908 (GRCm39) E57G probably damaging Het
Kcnc3 C A 7: 44,241,020 (GRCm39) D237E probably benign Het
Map3k8 A G 18: 4,343,137 (GRCm39) V130A probably benign Het
Mpp7 A G 18: 7,440,430 (GRCm39) probably null Het
Mtres1 A G 10: 43,408,933 (GRCm39) L70S probably benign Het
Myh13 T A 11: 67,233,311 (GRCm39) L610Q probably damaging Het
Or13p5 C A 4: 118,592,235 (GRCm39) P170T probably damaging Het
Or8b52 T C 9: 38,577,064 (GRCm39) I25M probably benign Het
Pcdhb5 A T 18: 37,454,129 (GRCm39) T170S probably benign Het
Polr3b T A 10: 84,516,251 (GRCm39) H626Q probably benign Het
Prkg1 A T 19: 31,742,146 (GRCm39) L26Q probably damaging Het
Prob1 T C 18: 35,787,039 (GRCm39) N405S possibly damaging Het
Proz T G 8: 13,123,630 (GRCm39) S300R probably damaging Het
Psg19 A G 7: 18,527,990 (GRCm39) I251T probably benign Het
Rcbtb1 T C 14: 59,467,401 (GRCm39) I413T possibly damaging Het
Rnf144b T A 13: 47,382,452 (GRCm39) Y103N probably damaging Het
Rspry1 G C 8: 95,358,747 (GRCm39) G194R probably benign Het
Scn2b A G 9: 45,036,917 (GRCm39) I142V probably damaging Het
Spata20 A T 11: 94,372,607 (GRCm39) L588H probably damaging Het
Stk32b T A 5: 37,614,503 (GRCm39) H335L probably benign Het
Taar4 A C 10: 23,836,801 (GRCm39) D137A possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tek A T 4: 94,738,074 (GRCm39) H708L probably benign Het
Tmem89 C T 9: 108,744,095 (GRCm39) L132F unknown Het
Ugt2b38 T C 5: 87,559,681 (GRCm39) I404V probably benign Het
Vmn1r16 C T 6: 57,299,814 (GRCm39) M269I probably benign Het
Vmn1r201 A G 13: 22,659,422 (GRCm39) K212R probably damaging Het
Vmn2r11 A C 5: 109,201,626 (GRCm39) F293V probably damaging Het
Zdhhc17 A T 10: 110,798,240 (GRCm39) probably benign Het
Zfp423 C A 8: 88,509,338 (GRCm39) M335I probably benign Het
Zfp74 T C 7: 29,634,079 (GRCm39) Y543C probably damaging Het
Zfp975 A T 7: 42,312,264 (GRCm39) S116R 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
R8068:Or5ap2 UTSW 2 85,680,150 (GRCm39) missense probably damaging 1.00
R8298:Or5ap2 UTSW 2 85,680,533 (GRCm39) missense probably damaging 1.00
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'- GATGCTAGTGAACCTCATGGC -3'
(R):5'- CAGTATGGCAATGAGGATGCAC -3'

Sequencing Primer
(F):5'- CTCATGGCTGAGGATAAGAGCATTTC -3'
(R):5'- CACAACTGATGACATTGAAACTGG -3'
Posted On 2021-03-08