Incidental Mutation 'R2918:Or2aa1'
ID 255380
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 040503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2918 (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: 97.3%
  • 20x: 95.2%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,989,579 (GRCm39) N401D probably benign Het
Agtpbp1 T A 13: 59,644,829 (GRCm39) D679V possibly damaging Het
Akap8 A G 17: 32,524,622 (GRCm39) V558A probably benign Het
Arrdc2 C T 8: 71,290,171 (GRCm39) R170Q probably benign Het
Atg10 A T 13: 91,189,027 (GRCm39) H94Q probably damaging Het
Atg4a-ps G A 3: 103,552,837 (GRCm39) A168V probably damaging Het
Crb2 G T 2: 37,673,395 (GRCm39) R97L probably benign Het
Dnaja1 C T 4: 40,724,052 (GRCm39) A71V possibly damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
G6pd2 A G 5: 61,966,869 (GRCm39) R215G probably damaging Het
Hcn3 A G 3: 89,054,920 (GRCm39) S776P probably benign Het
Ift140 C A 17: 25,254,805 (GRCm39) N159K possibly damaging Het
Mafa A G 15: 75,619,147 (GRCm39) S209P probably benign Het
Mug2 A G 6: 122,051,683 (GRCm39) probably null Het
Myh14 T C 7: 44,265,687 (GRCm39) D1564G possibly damaging Het
Ncor2 T A 5: 125,102,824 (GRCm39) I1792F probably damaging Het
Nod2 T C 8: 89,379,519 (GRCm39) F7L probably benign Het
Odad2 G A 18: 7,222,625 (GRCm39) S548L probably benign Het
Or10d5 A G 9: 39,861,660 (GRCm39) S136P probably benign Het
Or1m1 T A 9: 18,666,775 (GRCm39) D52V probably damaging Het
Pak3 T C X: 142,547,972 (GRCm39) V318A probably damaging Het
Pik3ap1 T C 19: 41,290,970 (GRCm39) T521A probably benign Het
Pkdcc G C 17: 83,523,378 (GRCm39) A162P probably benign Het
Rassf4 A G 6: 116,618,701 (GRCm39) V194A probably damaging Het
Scp2d1 T A 2: 144,665,868 (GRCm39) I69N probably damaging Het
Spg11 A G 2: 121,905,782 (GRCm39) S1288P probably damaging Het
Sptb A G 12: 76,645,532 (GRCm39) S2019P probably damaging Het
Stxbp5l A T 16: 37,021,004 (GRCm39) L630* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Trpc1 C T 9: 95,605,182 (GRCm39) R159H probably damaging Het
Zbtb14 C T 17: 69,695,214 (GRCm39) P304L probably damaging 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
R2917: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