Incidental Mutation 'R2239:Or2aa1'
ID 240554
Institutional Source Beutler Lab
Gene Symbol Or2aa1
Ensembl Gene ENSMUSG00000048919
Gene Name olfactory receptor family 2 subfamily AA member 1
Synonyms Olfr223, GA_x6K02T000SA-78-1037, MOR256-30
MMRRC Submission 040239-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R2239 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 59479954-59480913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59480097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 273 (S273P)
Ref Sequence ENSEMBL: ENSMUSP00000149991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061293] [ENSMUST00000215626]
AlphaFold Q8VF69
Predicted Effect possibly damaging
Transcript: ENSMUST00000061293
AA Change: S273P

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054824
Gene: ENSMUSG00000048919
AA Change: S273P

DomainStartEndE-ValueType
Pfam:7tm_4 35 310 1.1e-50 PFAM
Pfam:7TM_GPCR_Srsx 39 255 6.4e-7 PFAM
Pfam:7tm_1 45 292 3.4e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215626
AA Change: S273P

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 94% (68/72)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm T A 1: 139,384,584 (GRCm39) I127K possibly damaging Het
Atp8b3 A G 10: 80,366,822 (GRCm39) C259R probably damaging Het
Camk2g A G 14: 20,789,455 (GRCm39) I205T probably damaging Het
Ccdc47 G T 11: 106,092,960 (GRCm39) N100K possibly damaging Het
Cd200r4 T A 16: 44,641,260 (GRCm39) M1K probably null Het
Cdc37 G A 9: 21,053,829 (GRCm39) Q176* probably null Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cep128 T C 12: 91,314,341 (GRCm39) T146A probably benign Het
Cnnm4 T A 1: 36,544,759 (GRCm39) S673T probably benign Het
Cnot1 T C 8: 96,496,149 (GRCm39) I342V probably benign Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Dars2 T C 1: 160,890,852 (GRCm39) T120A possibly damaging Het
Dnah7b C A 1: 46,240,344 (GRCm39) probably benign Het
Emilin2 T A 17: 71,617,219 (GRCm39) Q64L probably benign Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Exoc1 T C 5: 76,707,557 (GRCm39) probably benign Het
Fam186a C T 15: 99,852,745 (GRCm39) V158M unknown Het
Fryl A G 5: 73,265,890 (GRCm39) L477P probably damaging Het
Gbf1 T C 19: 46,152,057 (GRCm39) I30T probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Ift88 A G 14: 57,692,961 (GRCm39) I387V probably damaging Het
Kcnh5 T A 12: 75,054,493 (GRCm39) M484L probably benign Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Kdm6a T C X: 18,065,476 (GRCm39) F104S probably damaging Het
Kntc1 T C 5: 123,941,733 (GRCm39) V1809A possibly damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Map3k1 A C 13: 111,885,478 (GRCm39) S1480A probably benign Het
Map7 A T 10: 20,154,028 (GRCm39) N715Y unknown Het
Morn4 A G 19: 42,066,471 (GRCm39) Y39H possibly damaging Het
Myh14 A T 7: 44,314,607 (GRCm39) D105E probably damaging Het
Nfasc T C 1: 132,510,760 (GRCm39) probably benign Het
Nfe2l2 G A 2: 75,506,898 (GRCm39) P401S probably benign Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Or5ac23 T A 16: 59,149,738 (GRCm39) I45F probably damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
P4hb A G 11: 120,454,108 (GRCm39) Y329H probably damaging Het
Papolg A G 11: 23,826,378 (GRCm39) Y259H probably damaging Het
Pcgf5 A T 19: 36,414,754 (GRCm39) N105I probably damaging Het
Pde4a G A 9: 21,122,564 (GRCm39) C820Y probably damaging Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Phrf1 A G 7: 140,817,605 (GRCm39) E138G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc16a8 T C 15: 79,137,147 (GRCm39) M88V probably damaging Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tet1 T C 10: 62,715,513 (GRCm39) D94G probably benign Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C A 1: 188,308,411 (GRCm39) T2020K probably benign Het
Zan G A 5: 137,456,099 (GRCm39) Q1354* probably null Het
Zpld2 A C 4: 133,929,516 (GRCm39) M263R unknown Het
Other mutations in Or2aa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2916:Or2aa1 UTSW 11 59,480,265 (GRCm39) missense probably benign 0.05
R2917:Or2aa1 UTSW 11 59,480,265 (GRCm39) missense probably benign 0.05
R2918:Or2aa1 UTSW 11 59,480,265 (GRCm39) missense probably benign 0.05
R5319:Or2aa1 UTSW 11 59,480,477 (GRCm39) missense probably damaging 0.98
R6472:Or2aa1 UTSW 11 59,480,582 (GRCm39) missense probably benign 0.26
R7038:Or2aa1 UTSW 11 59,480,408 (GRCm39) missense possibly damaging 0.90
R8554:Or2aa1 UTSW 11 59,480,312 (GRCm39) missense possibly damaging 0.80
R9023:Or2aa1 UTSW 11 59,480,367 (GRCm39) missense probably damaging 1.00
Z1177:Or2aa1 UTSW 11 59,480,087 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AATTCCAGCCTAAGGTCTTACG -3'
(R):5'- AGTGTCTCCTTTGACAGTGCTC -3'

Sequencing Primer
(F):5'- GCACTAACTTACATATGGTAGCTGG -3'
(R):5'- TGACAGTGCTCATCTCTTACATC -3'
Posted On 2014-10-15