Incidental Mutation 'R3433:Or2a57'
ID 266286
Institutional Source Beutler Lab
Gene Symbol Or2a57
Ensembl Gene ENSMUSG00000061210
Gene Name olfactory receptor family 2 subfamily A member 57
Synonyms GA_x6K02T2P3E9-4322325-4321360, Olfr47, MOR261-9, IB12
MMRRC Submission 040651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3433 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43212544-43213509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43212607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 22 (I22F)
Ref Sequence ENSEMBL: ENSMUSP00000151056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078057] [ENSMUST00000215569]
AlphaFold Q8VF18
Predicted Effect probably damaging
Transcript: ENSMUST00000078057
AA Change: I22F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077204
Gene: ENSMUSG00000061210
AA Change: I22F

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2.3e-62 PFAM
Pfam:7tm_1 40 289 4.6e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215569
AA Change: I22F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,455 (GRCm39) W1302R probably damaging Het
Abcf1 A G 17: 36,269,109 (GRCm39) Y689H probably benign Het
Adamtsl5 T C 10: 80,178,725 (GRCm39) T218A probably benign Het
Ahnak G T 19: 8,987,358 (GRCm39) V2881L probably benign Het
Atp6v1b1 C A 6: 83,720,074 (GRCm39) T3K possibly damaging Het
Atp8b5 A T 4: 43,372,697 (GRCm39) R1112S probably benign Het
Carmil3 A G 14: 55,745,151 (GRCm39) D1331G probably benign Het
Catsperg2 A G 7: 29,400,643 (GRCm39) F696S possibly damaging Het
Cd33 T C 7: 43,179,331 (GRCm39) T273A probably benign Het
Cenpf C T 1: 189,392,146 (GRCm39) C562Y probably damaging Het
Cep192 A G 18: 67,967,963 (GRCm39) R816G probably benign Het
Cnot11 G A 1: 39,584,268 (GRCm39) probably null Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Dnah9 T C 11: 65,965,938 (GRCm39) M1693V possibly damaging Het
Fbxo41 A G 6: 85,454,613 (GRCm39) I701T probably damaging Het
Figla G T 6: 85,994,411 (GRCm39) R62L probably damaging Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10845 C T 14: 80,100,851 (GRCm39) noncoding transcript Het
Gm5114 T C 7: 39,058,621 (GRCm39) K333E probably benign Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Il6st A G 13: 112,640,365 (GRCm39) K653E probably damaging Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Leng8 C A 7: 4,145,131 (GRCm39) T177K probably benign Het
Lrrtm2 A C 18: 35,346,950 (GRCm39) S117R probably damaging Het
Megf8 G T 7: 25,059,549 (GRCm39) A2285S probably benign Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Myo18a G T 11: 77,708,870 (GRCm39) probably null Het
Nars1 A T 18: 64,642,374 (GRCm39) M156K probably damaging Het
Ndor1 A G 2: 25,137,823 (GRCm39) S499P possibly damaging Het
Or2r11 G A 6: 42,437,888 (GRCm39) H22Y probably benign Het
Or4a78 T C 2: 89,497,577 (GRCm39) I218V probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Ros1 A G 10: 51,967,204 (GRCm39) Y1668H probably benign Het
Rrbp1 A G 2: 143,794,200 (GRCm39) probably benign Het
Rtn4rl2 T C 2: 84,702,444 (GRCm39) Y376C probably damaging Het
Seh1l A C 18: 67,926,222 (GRCm39) K358T probably benign Het
Sema3e A T 5: 14,302,728 (GRCm39) Y751F probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spred2 G T 11: 19,948,277 (GRCm39) E91* probably null Het
Sspo A T 6: 48,452,885 (GRCm39) probably null Het
Tcaf1 A G 6: 42,663,508 (GRCm39) V124A probably damaging Het
Tnks1bp1 T C 2: 84,901,360 (GRCm39) probably benign Het
Txndc11 T C 16: 10,906,052 (GRCm39) T493A probably benign Het
Usp17lb T A 7: 104,490,855 (GRCm39) Q23L possibly damaging Het
Vgf T C 5: 137,059,873 (GRCm39) F12L probably benign Het
Zfp13 G A 17: 23,795,602 (GRCm39) T323I probably damaging Het
Other mutations in Or2a57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Or2a57 APN 6 43,212,559 (GRCm39) missense possibly damaging 0.86
IGL03277:Or2a57 APN 6 43,212,876 (GRCm39) missense probably damaging 1.00
R1334:Or2a57 UTSW 6 43,212,899 (GRCm39) missense probably benign 0.44
R2697:Or2a57 UTSW 6 43,213,060 (GRCm39) missense probably damaging 0.98
R4794:Or2a57 UTSW 6 43,212,629 (GRCm39) missense probably damaging 1.00
R4954:Or2a57 UTSW 6 43,213,318 (GRCm39) missense probably benign 0.02
R4993:Or2a57 UTSW 6 43,213,390 (GRCm39) missense possibly damaging 0.49
R6248:Or2a57 UTSW 6 43,212,838 (GRCm39) nonsense probably null
R7464:Or2a57 UTSW 6 43,213,228 (GRCm39) missense probably damaging 0.98
R7600:Or2a57 UTSW 6 43,212,770 (GRCm39) missense probably damaging 1.00
R7984:Or2a57 UTSW 6 43,212,730 (GRCm39) missense probably damaging 1.00
R8189:Or2a57 UTSW 6 43,213,013 (GRCm39) missense probably benign 0.03
R8430:Or2a57 UTSW 6 43,212,894 (GRCm39) missense probably benign 0.06
R8967:Or2a57 UTSW 6 43,213,073 (GRCm39) missense probably damaging 1.00
R8975:Or2a57 UTSW 6 43,213,056 (GRCm39) missense probably benign 0.12
R9027:Or2a57 UTSW 6 43,213,358 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- GGCAATGTAGTACTCTTCCAAAAGC -3'
(R):5'- CATCCTGCAAAGGTGATGGG -3'

Sequencing Primer
(F):5'- CAAAAGCTGGATGTCAGTTAAAAC -3'
(R):5'- CTCATCCAAGAGGTTTATGAGTGTC -3'
Posted On 2015-02-18