Incidental Mutation 'R6717:Or5ap2'
ID 529418
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 044835-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R6717 (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 85680567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 257 (I257N)
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: I257N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058242
Gene: ENSMUSG00000046975
AA Change: I257N

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: I257N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (47/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C T 5: 4,114,086 (GRCm39) L3122F probably damaging Het
Atp6v1b1 A T 6: 83,730,632 (GRCm39) probably null Het
Ccdc178 A T 18: 22,153,946 (GRCm39) V621E probably damaging Het
Cfap126 T C 1: 170,941,671 (GRCm39) probably null Het
Cog2 T C 8: 125,252,488 (GRCm39) I64T probably damaging Het
Dhx9 A C 1: 153,349,210 (GRCm39) probably null Het
Efcab7 A G 4: 99,761,931 (GRCm39) D407G possibly damaging Het
Eif2b5 G T 16: 20,324,033 (GRCm39) G459C probably damaging Het
Eml5 T C 12: 98,793,765 (GRCm39) E1168G probably damaging Het
Flnc AGCTGTCAAGTATGCTG AGCTG 6: 29,450,901 (GRCm39) probably benign Het
Fry A G 5: 150,419,777 (GRCm39) T980A probably benign Het
Gabbr2 A G 4: 46,787,574 (GRCm39) V363A possibly damaging Het
Ggt6 T A 11: 72,328,346 (GRCm39) L244* probably null Het
Gprc6a T A 10: 51,491,233 (GRCm39) I768F probably damaging Het
Grk1 G A 8: 13,466,237 (GRCm39) M560I probably benign Het
Hapln4 G A 8: 70,537,740 (GRCm39) E145K probably damaging Het
Hoxd9 C T 2: 74,528,733 (GRCm39) P112S probably benign Het
Ly6g6f T A 17: 35,304,550 (GRCm39) M1L probably benign Het
Mast1 T C 8: 85,644,383 (GRCm39) T849A probably benign Het
Mob4 A T 1: 55,175,872 (GRCm39) M39L possibly damaging Het
Mrgpre A T 7: 143,335,260 (GRCm39) L81Q probably damaging Het
Mst1 T C 9: 107,957,774 (GRCm39) probably null Het
Muc5b A T 7: 141,411,559 (GRCm39) R1502* probably null Het
Or4b13 T A 2: 90,082,868 (GRCm39) I155L probably benign Het
Or9e1 T C 11: 58,732,113 (GRCm39) Y58H probably damaging Het
Pdc A G 1: 150,208,769 (GRCm39) D84G probably damaging Het
Peak1 T C 9: 56,114,523 (GRCm39) N443D probably benign Het
Pkd1l3 T A 8: 110,341,401 (GRCm39) W85R unknown Het
Pramel31 G T 4: 144,089,227 (GRCm39) V182L probably benign Het
Rfc1 G A 5: 65,459,347 (GRCm39) Q190* probably null Het
Rfc1 A G 5: 65,470,304 (GRCm39) S68P probably damaging Het
Rnf145 T C 11: 44,452,317 (GRCm39) V432A probably benign Het
Ror2 A G 13: 53,273,018 (GRCm39) S204P probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Slc2a8 A C 2: 32,866,189 (GRCm39) M277R probably damaging Het
Slc4a1 T C 11: 102,245,249 (GRCm39) Y566C probably damaging Het
Slc6a12 A G 6: 121,331,262 (GRCm39) N185S probably benign Het
Srcap GCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCT 7: 127,157,482 (GRCm39) probably benign Het
Stk33 T A 7: 108,926,823 (GRCm39) T279S possibly damaging Het
Taok3 A G 5: 117,379,015 (GRCm39) probably benign Het
Tlr11 A G 14: 50,599,561 (GRCm39) T516A probably benign Het
Tmem132c T A 5: 127,641,093 (GRCm39) L1088Q possibly damaging Het
Tmem132d T A 5: 127,861,485 (GRCm39) M879L probably benign Het
Tnk2 A G 16: 32,489,687 (GRCm39) E322G probably damaging Het
Ttc28 T C 5: 111,433,302 (GRCm39) V2081A probably benign Het
Ttn C T 2: 76,624,753 (GRCm39) probably null Het
Zfp105 T C 9: 122,759,373 (GRCm39) V348A possibly damaging Het
Zswim2 T C 2: 83,745,753 (GRCm39) R562G 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
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
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'- AATGGCATTGTGATCATGGC -3'
(R):5'- CAAATCAAATTCAGGTCTCGGTG -3'

Sequencing Primer
(F):5'- GTGATCATGGCCTTCTCCAG -3'
(R):5'- GGGTGAAAATATATACCCTTGCCTC -3'
Posted On 2018-08-01