Incidental Mutation 'R4954:Or2a57'
ID 381479
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 042551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4954 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43212544-43213509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43213318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 259 (M259V)
Ref Sequence ENSEMBL: ENSMUSP00000151056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078057] [ENSMUST00000215569]
AlphaFold Q8VF18
Predicted Effect probably benign
Transcript: ENSMUST00000078057
AA Change: M259V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000077204
Gene: ENSMUSG00000061210
AA Change: M259V

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2.3e-62 PFAM
Pfam:7tm_1 40 289 4.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215569
AA Change: M259V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (66/66)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Alk C T 17: 72,209,687 (GRCm39) W919* probably null Het
Aoc3 G A 11: 101,222,925 (GRCm39) G387D probably damaging Het
Arhgap26 T A 18: 39,376,694 (GRCm39) C441S probably benign Het
Arhgap28 C A 17: 68,176,008 (GRCm39) E100* probably null Het
Ate1 C T 7: 130,110,748 (GRCm39) G186D probably benign Het
Birc6 T A 17: 74,919,026 (GRCm39) L1948H probably damaging Het
Bmp2k C T 5: 97,234,623 (GRCm39) probably benign Het
Ccin A T 4: 43,985,077 (GRCm39) I495F probably benign Het
Cir1 T A 2: 73,140,848 (GRCm39) E40D probably benign Het
Cyp3a57 A T 5: 145,307,765 (GRCm39) probably null Het
Dennd1b A G 1: 138,981,124 (GRCm39) T113A probably damaging Het
Dnah2 G A 11: 69,430,322 (GRCm39) P79S possibly damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Dync2i1 T C 12: 116,219,645 (GRCm39) D99G probably damaging Het
Enpep A T 3: 129,077,829 (GRCm39) I596N probably damaging Het
Eps15 G A 4: 109,227,875 (GRCm39) probably null Het
Ext1 T C 15: 53,207,888 (GRCm39) D291G probably damaging Het
Gm12883 T C 4: 121,252,198 (GRCm39) noncoding transcript Het
Gm9921 A G 12: 45,484,383 (GRCm39) noncoding transcript Het
H2-T22 C A 17: 36,352,851 (GRCm39) W85C probably damaging Het
Heatr1 G A 13: 12,422,397 (GRCm39) probably null Het
Hspa4l T A 3: 40,739,832 (GRCm39) probably null Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Kpna1 T C 16: 35,853,696 (GRCm39) V442A probably damaging Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Musk C T 4: 58,344,222 (GRCm39) T285I probably damaging Het
Myorg G A 4: 41,498,241 (GRCm39) A463V possibly damaging Het
Nbea T G 3: 55,943,379 (GRCm39) Q632P probably damaging Het
Ncoa3 T C 2: 165,907,706 (GRCm39) V1105A probably benign Het
Neb T C 2: 52,067,530 (GRCm39) probably null Het
Nlrp4e A T 7: 23,061,318 (GRCm39) K970* probably null Het
Oog2 A T 4: 143,917,302 (GRCm39) probably benign Het
Or13g1 T C 7: 85,955,809 (GRCm39) I171V probably benign Het
Or52a24 A G 7: 103,381,414 (GRCm39) I94V probably damaging Het
Otos T C 1: 92,572,167 (GRCm39) Y53C probably damaging Het
Oxct2a A T 4: 123,216,252 (GRCm39) C376* probably null Het
Pate12 A T 9: 36,344,156 (GRCm39) K46N probably benign Het
Phf14 C A 6: 11,987,619 (GRCm39) Q633K probably benign Het
Pkdrej T A 15: 85,700,602 (GRCm39) N1778I probably damaging Het
Psmc3 C T 2: 90,885,974 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,274 (GRCm39) I177F probably damaging Het
Rps6ka2 A G 17: 7,539,003 (GRCm39) D307G probably benign Het
Rps6ka2 G A 17: 7,566,685 (GRCm39) V648I probably benign Het
Scn11a C T 9: 119,587,725 (GRCm39) V1340M possibly damaging Het
Sema7a T C 9: 57,863,663 (GRCm39) W279R probably damaging Het
Slc2a10 A T 2: 165,356,675 (GRCm39) I112F probably damaging Het
Stk4 C A 2: 163,993,601 (GRCm39) S77R possibly damaging Het
Stk4 T A 2: 163,993,602 (GRCm39) W78R probably damaging Het
Syf2 T A 4: 134,662,283 (GRCm39) L99* probably null Het
Tas2r104 A T 6: 131,661,968 (GRCm39) I247K probably damaging Het
Usp15 G T 10: 122,967,303 (GRCm39) R368S probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r2 T A 3: 64,047,905 (GRCm39) L20F probably benign Het
Zcchc4 A T 5: 52,976,559 (GRCm39) H451L 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
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
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'- TGACACAACACTCAATCAAGTTGTC -3'
(R):5'- AACTACCAAGGCTTGTGGTG -3'

Sequencing Primer
(F):5'- CAATCAAGTTGTCATTTTTGCAGCC -3'
(R):5'- TACCAAGGCTTGTGGTGGGAAC -3'
Posted On 2016-04-27