Incidental Mutation 'R5194:Or51a7'
ID 399959
Institutional Source Beutler Lab
Gene Symbol Or51a7
Ensembl Gene ENSMUSG00000073962
Gene Name olfactory receptor family 51 subfamily A member 7
Synonyms GA_x6K02T2PBJ9-5676385-5677371, MOR8-5, Olfr576
MMRRC Submission 042770-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R5194 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102614309-102615247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102615071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 255 (I255V)
Ref Sequence ENSEMBL: ENSMUSP00000142459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098213] [ENSMUST00000185326]
AlphaFold A0A0G2JFH3
Predicted Effect probably benign
Transcript: ENSMUST00000098213
AA Change: I255V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143172
Gene: ENSMUSG00000073962
AA Change: I255V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 301 6.2e-12 PFAM
Pfam:7tm_1 41 291 2.5e-29 PFAM
Pfam:7tm_4 140 284 3.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185326
AA Change: I255V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
AA Change: I255V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 300 9.7e-12 PFAM
Pfam:7tm_1 41 291 1.8e-29 PFAM
Pfam:7tm_4 140 284 2.6e-28 PFAM
Meta Mutation Damage Score 0.0710 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,348,059 (GRCm39) N82D probably benign Het
Aadacl4fm2 A G 4: 144,281,652 (GRCm39) V380A probably benign Het
Acadm C T 3: 153,638,755 (GRCm39) R206H possibly damaging Het
Acly T A 11: 100,414,372 (GRCm39) Y18F probably benign Het
Acnat2 G T 4: 49,380,452 (GRCm39) Q291K probably benign Het
Agtpbp1 T C 13: 59,648,453 (GRCm39) I456V probably benign Het
Ankrd7 A G 6: 18,868,076 (GRCm39) N114S possibly damaging Het
Arfgef1 A T 1: 10,275,132 (GRCm39) L307I probably benign Het
Arhgef2 A T 3: 88,542,956 (GRCm39) I383F probably damaging Het
Cbs C T 17: 31,843,198 (GRCm39) probably null Het
Cep135 T C 5: 76,763,624 (GRCm39) V538A probably benign Het
Dennd5a T C 7: 109,532,936 (GRCm39) E254G probably damaging Het
Drc7 T C 8: 95,788,345 (GRCm39) V236A probably benign Het
Dtna C T 18: 23,723,302 (GRCm39) Q169* probably null Het
Egfem1 G A 3: 29,411,345 (GRCm39) probably null Het
Eif2ak3 T C 6: 70,835,462 (GRCm39) S130P possibly damaging Het
Ewsr1 T C 11: 5,032,355 (GRCm39) N297S unknown Het
F13a1 T G 13: 37,156,037 (GRCm39) D192A probably damaging Het
Fam120a A G 13: 49,034,411 (GRCm39) V1067A probably benign Het
Gm17490 T C 2: 11,631,062 (GRCm39) Y5C unknown Het
Gm57859 T C 11: 113,579,654 (GRCm39) S350P possibly damaging Het
Gm8587 C T 12: 88,056,556 (GRCm39) noncoding transcript Het
H2-Ab1 C T 17: 34,488,352 (GRCm39) probably benign Het
Hoxd12 T C 2: 74,505,447 (GRCm39) L6P probably damaging Het
Ifi204 C T 1: 173,576,910 (GRCm39) D564N possibly damaging Het
Irak2 T C 6: 113,667,751 (GRCm39) V444A probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrba A C 3: 86,235,526 (GRCm39) N877H probably damaging Het
Mylk3 T C 8: 86,079,495 (GRCm39) I388V probably benign Het
Myo9b C T 8: 71,801,733 (GRCm39) A1286V probably benign Het
Myt1l A C 12: 29,861,647 (GRCm39) D143A unknown Het
Ngfr T C 11: 95,471,808 (GRCm39) N63S probably benign Het
Or2ag16 A T 7: 106,352,426 (GRCm39) H56Q probably benign Het
Or4c3 T A 2: 89,851,870 (GRCm39) Y180F probably damaging Het
Or6c70 C T 10: 129,709,967 (GRCm39) V220I probably benign Het
Or6z6 A G 7: 6,491,519 (GRCm39) L118P probably damaging Het
P2rx7 T C 5: 122,811,858 (GRCm39) S390P probably benign Het
Pcdhga4 A C 18: 37,820,794 (GRCm39) Q781P probably benign Het
Phip G A 9: 82,790,915 (GRCm39) S677F probably benign Het
Ptpdc1 C A 13: 48,740,265 (GRCm39) V389F possibly damaging Het
Rab2a T A 4: 8,604,381 (GRCm39) I161N probably benign Het
Rnf113a2 T A 12: 84,464,111 (GRCm39) M1K probably null Het
Schip1 T C 3: 68,402,205 (GRCm39) V122A probably benign Het
Sdr16c5 C A 4: 4,006,663 (GRCm39) A210S probably benign Het
Sh3bp1 A G 15: 78,787,301 (GRCm39) K83E probably damaging Het
Sipa1l2 T C 8: 126,166,012 (GRCm39) S1541G possibly damaging Het
Slc22a21 T C 11: 53,870,673 (GRCm39) Y4C probably damaging Het
Smco1 C T 16: 32,092,592 (GRCm39) H88Y probably damaging Het
Tll2 T C 19: 41,084,336 (GRCm39) D697G probably damaging Het
Trim34a A G 7: 103,910,200 (GRCm39) N334S possibly damaging Het
Ubqln1 A G 13: 58,346,847 (GRCm39) I64T probably benign Het
Vstm2b T A 7: 40,551,912 (GRCm39) probably null Het
Wdr17 A G 8: 55,140,639 (GRCm39) F238L probably damaging Het
Wiz T C 17: 32,596,822 (GRCm39) probably benign Het
Zfp407 T C 18: 84,579,434 (GRCm39) S560G probably benign Het
Other mutations in Or51a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Or51a7 APN 7 102,615,235 (GRCm39) splice site probably benign
IGL01695:Or51a7 APN 7 102,614,790 (GRCm39) missense probably damaging 0.97
IGL01707:Or51a7 APN 7 102,615,126 (GRCm39) missense probably damaging 0.97
IGL02637:Or51a7 APN 7 102,622,250 (GRCm39) utr 3 prime probably benign
R1636:Or51a7 UTSW 7 102,614,898 (GRCm39) missense possibly damaging 0.94
R3077:Or51a7 UTSW 7 102,615,223 (GRCm39) missense probably benign 0.06
R3079:Or51a7 UTSW 7 102,622,254 (GRCm39) splice site probably null
R3803:Or51a7 UTSW 7 102,615,228 (GRCm39) critical splice donor site probably null
R4342:Or51a7 UTSW 7 102,615,231 (GRCm39) missense probably benign 0.03
R4866:Or51a7 UTSW 7 102,614,927 (GRCm39) missense probably benign 0.01
R5193:Or51a7 UTSW 7 102,615,143 (GRCm39) missense possibly damaging 0.52
R9002:Or51a7 UTSW 7 102,614,618 (GRCm39) missense probably damaging 1.00
R9590:Or51a7 UTSW 7 102,614,553 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ACTGGCCTGCTCTGATAACAAG -3'
(R):5'- GACCATGATGCTGAGCACAG -3'

Sequencing Primer
(F):5'- CCTGCTCTGATAACAAGATCAATTTC -3'
(R):5'- GTGCTAGAAAGTACCTATTTGCAG -3'
Posted On 2016-07-06