Incidental Mutation 'R2917:Or2aa1'
ID 254911
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R2917 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 59479954-59480913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59480265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 217 (T217A)
Ref Sequence ENSEMBL: ENSMUSP00000149991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061293] [ENSMUST00000215626]
AlphaFold Q8VF69
Predicted Effect probably benign
Transcript: ENSMUST00000061293
AA Change: T217A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000054824
Gene: ENSMUSG00000048919
AA Change: T217A

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 probably benign
Transcript: ENSMUST00000215626
AA Change: T217A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,141 (GRCm39) V568E probably damaging Het
Ap3m2 A G 8: 23,289,815 (GRCm39) V96A probably benign Het
Bglap3 G C 3: 88,276,819 (GRCm39) probably benign Het
Brd7 A G 8: 89,069,408 (GRCm39) I429T probably damaging Het
Cacna1h A C 17: 25,614,426 (GRCm39) L230R probably damaging Het
Camta2 A G 11: 70,571,787 (GRCm39) F479S probably damaging Het
Cmya5 A T 13: 93,227,572 (GRCm39) Y2505* probably null Het
Colgalt2 T A 1: 152,347,495 (GRCm39) V143D probably damaging Het
Dnaja1 C T 4: 40,724,052 (GRCm39) A71V possibly damaging Het
Gpr33 A G 12: 52,070,379 (GRCm39) V220A possibly damaging Het
Hsph1 A T 5: 149,554,251 (GRCm39) L168* probably null Het
Lig4 T A 8: 10,021,596 (GRCm39) E728V possibly damaging Het
Mrps23 T C 11: 88,100,743 (GRCm39) S75P probably damaging Het
Or5af2 A G 11: 58,708,314 (GRCm39) N160S probably damaging Het
Prss50 G T 9: 110,691,613 (GRCm39) G306C probably null Het
Rnf149 A T 1: 39,591,564 (GRCm39) S392T probably benign Het
Scn8a T A 15: 100,937,613 (GRCm39) F1661I probably damaging Het
Slc12a8 T A 16: 33,371,296 (GRCm39) I144N probably damaging Het
Stxbp5l A T 16: 37,021,004 (GRCm39) L630* probably null Het
Tmem131l G A 3: 83,844,887 (GRCm39) R441* probably null Het
Trim63 T C 4: 134,050,462 (GRCm39) Y249H probably damaging Het
Vmn2r125 T G 4: 156,703,564 (GRCm39) L314R probably benign Het
Vwf A G 6: 125,585,106 (GRCm39) N663D probably benign Het
Other mutations in Or2aa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2239:Or2aa1 UTSW 11 59,480,097 (GRCm39) missense possibly damaging 0.83
R2916: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'- AGGACCTTCTTCCAAGCTTC -3'
(R):5'- TGGTTCAAGCTACACTCACCC -3'

Sequencing Primer
(F):5'- ACATCCTTGTTTCTCAGAGTGTAG -3'
(R):5'- GGTTCAAGCTACACTCACCCTCTAC -3'
Posted On 2014-12-29