Incidental Mutation 'R3854:Or51r1'
ID 276063
Institutional Source Beutler Lab
Gene Symbol Or51r1
Ensembl Gene ENSMUSG00000073975
Gene Name olfactory receptor family 51 subfamily R member 1
Synonyms GA_x6K02T2PBJ9-5297243-5298193, Olfr550, MOR16-1
MMRRC Submission 041605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R3854 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102220638-102228869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 102228227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 175 (L175R)
Ref Sequence ENSEMBL: ENSMUSP00000149536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098225] [ENSMUST00000213540] [ENSMUST00000216524]
AlphaFold E9Q544
Predicted Effect probably damaging
Transcript: ENSMUST00000098225
AA Change: L175R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095828
Gene: ENSMUSG00000073975
AA Change: L175R

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 6.2e-102 PFAM
Pfam:7TM_GPCR_Srsx 36 156 1.8e-10 PFAM
Pfam:7tm_1 42 293 4.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213540
Predicted Effect probably damaging
Transcript: ENSMUST00000216524
AA Change: L175R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.2%
Validation Efficiency 96% (46/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T C 2: 58,352,946 (GRCm39) K338R probably damaging Het
Adar C T 3: 89,643,565 (GRCm39) P482L probably damaging Het
Adh5 A G 3: 138,156,776 (GRCm39) D154G probably benign Het
Apoa1 A G 9: 46,141,521 (GRCm39) S206G probably benign Het
Aspdh T C 7: 44,115,613 (GRCm39) V5A possibly damaging Het
Bend3 AAGGACCA AA 10: 43,386,713 (GRCm39) probably benign Het
C2cd3 A T 7: 100,103,808 (GRCm39) probably null Het
Ccdc87 A G 19: 4,889,546 (GRCm39) I13V probably benign Het
Cd163 A T 6: 124,288,525 (GRCm39) N319Y probably damaging Het
Cdc42bpa A G 1: 179,983,543 (GRCm39) probably benign Het
Ceacam2 T C 7: 25,238,227 (GRCm39) S66G probably benign Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Clhc1 T C 11: 29,521,789 (GRCm39) C441R probably damaging Het
Clstn2 G A 9: 97,345,648 (GRCm39) Q567* probably null Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Daam2 T C 17: 49,765,624 (GRCm39) N1093S probably benign Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eml6 C T 11: 29,699,905 (GRCm39) A1744T possibly damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbll1 T A 11: 35,688,526 (GRCm39) T246S probably benign Het
Fbln2 A T 6: 91,243,353 (GRCm39) T910S probably damaging Het
Fcna C T 2: 25,517,784 (GRCm39) G22D possibly damaging Het
Gadl1 G T 9: 115,835,732 (GRCm39) E387* probably null Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Lbr G A 1: 181,659,280 (GRCm39) T167I probably benign Het
Mdh1 C T 11: 21,509,281 (GRCm39) V234I probably benign Het
Muc2 A G 7: 141,308,081 (GRCm39) H420R probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or10z1 T A 1: 174,077,716 (GRCm39) Y259F probably damaging Het
Or1p1c A T 11: 74,161,105 (GRCm39) K297* probably null Het
Pgap3 T C 11: 98,281,638 (GRCm39) T187A possibly damaging Het
Pus10 T C 11: 23,653,003 (GRCm39) probably null Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sag T C 1: 87,752,240 (GRCm39) probably benign Het
Serpinb9e A G 13: 33,439,137 (GRCm39) I188V probably benign Het
Shcbp1l A T 1: 153,328,190 (GRCm39) I634F probably damaging Het
Slc6a16 T A 7: 44,917,596 (GRCm39) C485S probably damaging Het
Vmn1r215 A C 13: 23,260,058 (GRCm39) M33L probably benign Het
Vps26c A G 16: 94,311,665 (GRCm39) F95L probably benign Het
Other mutations in Or51r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Or51r1 APN 7 102,227,734 (GRCm39) splice site probably null
IGL02605:Or51r1 APN 7 102,228,602 (GRCm39) missense probably damaging 1.00
IGL03365:Or51r1 APN 7 102,227,836 (GRCm39) missense probably benign
R0180:Or51r1 UTSW 7 102,228,239 (GRCm39) missense probably damaging 1.00
R5337:Or51r1 UTSW 7 102,228,481 (GRCm39) missense probably damaging 1.00
R5606:Or51r1 UTSW 7 102,228,481 (GRCm39) missense probably damaging 1.00
R5646:Or51r1 UTSW 7 102,228,512 (GRCm39) missense possibly damaging 0.84
R6009:Or51r1 UTSW 7 102,227,801 (GRCm39) missense possibly damaging 0.86
R6751:Or51r1 UTSW 7 102,227,706 (GRCm39) start codon destroyed probably null
R7767:Or51r1 UTSW 7 102,220,971 (GRCm39) start gained probably benign
R8701:Or51r1 UTSW 7 102,227,899 (GRCm39) missense possibly damaging 0.54
R9074:Or51r1 UTSW 7 102,228,433 (GRCm39) missense probably damaging 0.99
R9101:Or51r1 UTSW 7 102,228,137 (GRCm39) missense probably benign 0.22
R9151:Or51r1 UTSW 7 102,228,500 (GRCm39) missense probably damaging 1.00
R9745:Or51r1 UTSW 7 102,227,861 (GRCm39) missense probably damaging 0.98
X0067:Or51r1 UTSW 7 102,227,707 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACGCCTTCACCTATGTGGAATC -3'
(R):5'- GAGTGCCTTAAGCCTTTCCC -3'

Sequencing Primer
(F):5'- CCTTCACCTATGTGGAATCTGGTG -3'
(R):5'- CTTTCCCCGGGTGATGCAATG -3'
Posted On 2015-04-06