Incidental Mutation 'R9027:Or2a57'
ID 686795
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 068856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9027 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 43212544-43213509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43213358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 272 (I272T)
Ref Sequence ENSEMBL: ENSMUSP00000151056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078057] [ENSMUST00000215569]
AlphaFold Q8VF18
Predicted Effect possibly damaging
Transcript: ENSMUST00000078057
AA Change: I272T

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077204
Gene: ENSMUSG00000061210
AA Change: I272T

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2.3e-62 PFAM
Pfam:7tm_1 40 289 4.6e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215569
AA Change: I272T

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (59/60)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b C A 5: 121,640,788 (GRCm39) E86* probably null Het
Ahnak T G 19: 8,984,617 (GRCm39) I1967S possibly damaging Het
Alox12e A G 11: 70,212,600 (GRCm39) V83A possibly damaging Het
Arhgap20 A T 9: 51,754,977 (GRCm39) R439S probably damaging Het
Arl1 A G 10: 88,569,458 (GRCm39) I20V probably damaging Het
Atad2 T C 15: 57,995,628 (GRCm39) D93G probably benign Het
Btbd7 T G 12: 102,804,838 (GRCm39) K67N probably damaging Het
C130050O18Rik A G 5: 139,400,301 (GRCm39) N118S probably benign Het
Ccz1 A C 5: 143,946,120 (GRCm39) probably benign Het
Cdk19 A G 10: 40,355,728 (GRCm39) S479G unknown Het
Chrd A G 16: 20,555,737 (GRCm39) T503A probably damaging Het
Clca4b G A 3: 144,617,827 (GRCm39) R759* probably null Het
Cpa5 G T 6: 30,612,604 (GRCm39) M1I probably null Het
Cr2 A T 1: 194,834,029 (GRCm39) I920N probably benign Het
Crmp1 C A 5: 37,437,947 (GRCm39) Y430* probably null Het
Dars1 A T 1: 128,296,163 (GRCm39) V390D possibly damaging Het
Dmtn A G 14: 70,853,555 (GRCm39) S85P probably damaging Het
Ermardl1 A G 17: 15,242,364 (GRCm39) E416G unknown Het
Fancm C A 12: 65,122,605 (GRCm39) D42E probably damaging Het
Gabrg3 T A 7: 56,423,122 (GRCm39) Y192F possibly damaging Het
Gpr3 A T 4: 132,938,209 (GRCm39) Y154* probably null Het
Huwe1 G A X: 150,716,084 (GRCm39) R4331Q unknown Het
Ints5 C A 19: 8,873,322 (GRCm39) P427Q possibly damaging Het
Jhy A T 9: 40,828,823 (GRCm39) V361D probably benign Het
Klhl33 G A 14: 51,130,322 (GRCm39) Q131* probably null Het
Lama2 A T 10: 27,080,881 (GRCm39) C981S probably damaging Het
Mks1 C A 11: 87,748,041 (GRCm39) L225I probably damaging Het
Ms4a20 A T 19: 11,083,055 (GRCm39) Y122N probably damaging Het
Nfasc T A 1: 132,539,343 (GRCm39) S402C probably damaging Het
Or4k50-ps1 A T 2: 111,522,517 (GRCm39) Y218F unknown Het
Or51g2 T C 7: 102,622,560 (GRCm39) D213G probably damaging Het
Pbx4 T A 8: 70,316,999 (GRCm39) D85E possibly damaging Het
Plcd1 T C 9: 118,913,709 (GRCm39) T50A probably damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Psen2 C A 1: 180,056,972 (GRCm39) E351* probably null Het
Rragd G A 4: 32,996,083 (GRCm39) V143I probably damaging Het
Rsph14 A T 10: 74,795,423 (GRCm39) M254K probably damaging Het
Selenoi C T 5: 30,437,607 (GRCm39) probably benign Het
Six6 T C 12: 72,986,935 (GRCm39) S36P Het
Slc12a8 T C 16: 33,445,215 (GRCm39) S370P probably benign Het
Slc25a46 A G 18: 31,716,432 (GRCm39) Y357H probably benign Het
Socs2 A T 10: 95,248,948 (GRCm39) V55D probably damaging Het
Socs6 T C 18: 88,888,852 (GRCm39) E21G probably benign Het
Spata31e4 C T 13: 50,857,007 (GRCm39) Q882* probably null Het
Speg A T 1: 75,365,076 (GRCm39) T486S possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stxbp5l T C 16: 37,165,473 (GRCm39) K82E probably damaging Het
Sugt1 A G 14: 79,825,155 (GRCm39) probably benign Het
Synm T C 7: 67,384,440 (GRCm39) Y1074C probably damaging Het
Sytl2 A G 7: 90,028,748 (GRCm39) T476A probably benign Het
Tbc1d1 T C 5: 64,414,349 (GRCm39) S237P probably benign Het
Tbc1d5 C A 17: 51,063,692 (GRCm39) M629I probably damaging Het
Tlr11 G A 14: 50,598,749 (GRCm39) G245D probably damaging Het
Tspan4 T C 7: 141,069,577 (GRCm39) V59A probably benign Het
Tulp4 T A 17: 6,283,472 (GRCm39) V1167E possibly damaging Het
Usp42 G A 5: 143,708,906 (GRCm39) T204M probably damaging Het
Vapb A G 2: 173,617,948 (GRCm39) K147R possibly damaging Het
Vmn1r228 T C 17: 20,997,422 (GRCm39) D32G probably benign Het
Vmn2r33 A G 7: 7,554,168 (GRCm39) F795S probably damaging Het
Vmn2r34 A T 7: 7,675,527 (GRCm39) N620K probably damaging Het
Vwf G T 6: 125,643,626 (GRCm39) C2389F Het
Wdr81 T C 11: 75,332,908 (GRCm39) E652G Het
Wdr81 A T 11: 75,343,207 (GRCm39) S687T probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null 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
R3433:Or2a57 UTSW 6 43,212,607 (GRCm39) missense probably damaging 0.96
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
Predicted Primers PCR Primer
(F):5'- AGTCTCCTACACACGCATCCTG -3'
(R):5'- ATTAGTCCTGCAGGTTAGGAGG -3'

Sequencing Primer
(F):5'- ATCCTGGTGGCAATCCTGAG -3'
(R):5'- AGATTGAGATCTCATGTCGTTAAAC -3'
Posted On 2021-11-19