Incidental Mutation 'R2992:Or51aa5'
ID 257937
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2992 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103166618-103167589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103166977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 205 (V205M)
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: V205M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077246
Gene: ENSMUSG00000096584
AA Change: V205M

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: V205M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baat A T 4: 49,499,675 (GRCm39) Y210* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep295 T A 9: 15,244,043 (GRCm39) K1471I probably damaging Het
Cpne4 A T 9: 104,899,564 (GRCm39) I416F probably damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Isg20 C T 7: 78,569,632 (GRCm39) A201V probably benign Het
Kdm6b ACTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTG 11: 69,297,133 (GRCm39) probably benign Het
Mmp16 G T 4: 18,011,657 (GRCm39) G191C probably damaging Het
Or6c2b C A 10: 128,947,404 (GRCm39) E297* probably null Het
Or9m2 T C 2: 87,821,121 (GRCm39) V222A probably benign Het
Patl2 T C 2: 121,956,235 (GRCm39) S210G probably damaging Het
Plekha6 T C 1: 133,222,396 (GRCm39) I994T probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rhobtb2 A G 14: 70,035,772 (GRCm39) S100P probably damaging Het
Snx13 T C 12: 35,155,190 (GRCm39) L418P probably damaging Het
Spink5 A C 18: 44,129,696 (GRCm39) E429A 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
R0739:Or51aa5 UTSW 7 103,166,931 (GRCm39) missense probably damaging 1.00
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'- ATGTGAGGGAAGCCTTGGAC -3'
(R):5'- CACTGTGATTGCCAAGATAGGG -3'

Sequencing Primer
(F):5'- GCCTTGGACCAAAACGATG -3'
(R):5'- TGATTGCCAAGATAGGGTTAGC -3'
Posted On 2015-01-11