Incidental Mutation 'R8554:Or2aa1'
ID 660033
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 068517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 59479954-59480913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59480312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 201 (L201Q)
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: L201Q

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054824
Gene: ENSMUSG00000048919
AA Change: L201Q

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: L201Q

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M 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
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
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'- TCCAAAGTACATGGTGACCAC -3'
(R):5'- TGATCGCTATGTGGCCATCTG -3'

Sequencing Primer
(F):5'- TACATGGTGACCACGAGCAAGTG -3'
(R):5'- ATCATGCATCTCTGGGCATG -3'
Posted On 2021-01-18