Incidental Mutation 'R0739:Or51aa5'
ID 70623
Institutional Source Beutler Lab
Gene Symbol Or51aa5
Ensembl Gene ENSMUSG00000096584
Gene Name olfactory receptor family 51 subfamily AA member 5
Synonyms MOR15-1, MOR15-4, Olfr611, GA_x6K02T2PBJ9-6236637-6235666
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103166618-103167589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103166931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 220 (Y220C)
Ref Sequence ENSEMBL: ENSMUSP00000149114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078108] [ENSMUST00000216074]
AlphaFold K7N609
Predicted Effect probably damaging
Transcript: ENSMUST00000078108
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077246
Gene: ENSMUSG00000096584
AA Change: Y220C

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 5.6e-110 PFAM
Pfam:7TM_GPCR_Srsx 37 309 4.6e-11 PFAM
Pfam:7tm_1 43 294 1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216074
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging Het
Other mutations in Or51aa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Or51aa5 APN 7 103,167,141 (GRCm39) missense probably damaging 1.00
IGL01950:Or51aa5 APN 7 103,167,472 (GRCm39) missense probably benign 0.34
IGL02897:Or51aa5 APN 7 103,167,337 (GRCm39) missense probably benign 0.01
IGL02968:Or51aa5 APN 7 103,167,466 (GRCm39) missense probably damaging 0.99
R0167:Or51aa5 UTSW 7 103,166,708 (GRCm39) nonsense probably null
R2992:Or51aa5 UTSW 7 103,166,977 (GRCm39) missense probably damaging 0.98
R4094:Or51aa5 UTSW 7 103,167,244 (GRCm39) missense possibly damaging 0.93
R4451:Or51aa5 UTSW 7 103,167,184 (GRCm39) missense probably damaging 1.00
R4735:Or51aa5 UTSW 7 103,167,030 (GRCm39) missense possibly damaging 0.89
R7585:Or51aa5 UTSW 7 103,167,166 (GRCm39) missense possibly damaging 0.50
R8921:Or51aa5 UTSW 7 103,167,030 (GRCm39) missense possibly damaging 0.89
R9505:Or51aa5 UTSW 7 103,167,446 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCACATAGACGATGGGGTTCATCAC -3'
(R):5'- TGACCACCACTGCATGTTTCACAC -3'

Sequencing Primer
(F):5'- GGGTTCATCACTGGAGGAATTAG -3'
(R):5'- CACTGCATGTTTCACACAGATG -3'
Posted On 2013-09-30