Incidental Mutation 'R6009:Or51r1'
ID 479649
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 044186-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6009 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102220638-102228869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102227801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 33 (N33S)
Ref Sequence ENSEMBL: ENSMUSP00000149536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098225] [ENSMUST00000213540] [ENSMUST00000216524]
AlphaFold E9Q544
Predicted Effect possibly damaging
Transcript: ENSMUST00000098225
AA Change: N33S

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095828
Gene: ENSMUSG00000073975
AA Change: N33S

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 possibly damaging
Transcript: ENSMUST00000216524
AA Change: N33S

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,700,454 (GRCm39) probably benign Het
Afap1 T C 5: 36,154,904 (GRCm39) S683P probably damaging Het
Chid1 T A 7: 141,109,493 (GRCm39) D131V probably damaging Het
Clstn2 C T 9: 97,338,579 (GRCm39) R860Q probably benign Het
Crlf1 A C 8: 70,956,129 (GRCm39) K403T probably damaging Het
Ctdspl2 T G 2: 121,819,319 (GRCm39) N201K probably benign Het
Cyb561a3 G A 19: 10,564,172 (GRCm39) V171I possibly damaging Het
Dazap1 T C 10: 80,121,138 (GRCm39) probably benign Het
Dbf4 G T 5: 8,453,718 (GRCm39) Q235K probably damaging Het
Dgka C T 10: 128,559,548 (GRCm39) G471D probably damaging Het
Fam13b A T 18: 34,630,458 (GRCm39) F100Y possibly damaging Het
Flii A T 11: 60,611,583 (GRCm39) L376* probably null Het
Fnip1 G T 11: 54,393,097 (GRCm39) G487V probably damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golgb1 G T 16: 36,735,321 (GRCm39) A1523S probably damaging Het
Gstm4 A G 3: 107,950,659 (GRCm39) V114A possibly damaging Het
Gtf3c1 A G 7: 125,246,602 (GRCm39) F1569S possibly damaging Het
Gtf3c5 A T 2: 28,461,177 (GRCm39) D312E probably benign Het
Gtpbp1 G A 15: 79,596,297 (GRCm39) V149M probably damaging Het
Hoxa7 C T 6: 52,194,367 (GRCm39) V7M probably damaging Het
Il17f C T 1: 20,849,510 (GRCm39) probably null Het
Ints9 T C 14: 65,245,531 (GRCm39) V263A probably benign Het
Kansl1l C T 1: 66,774,759 (GRCm39) C689Y probably benign Het
Kctd7 G A 5: 130,174,039 (GRCm39) G39E probably damaging Het
Krt82 T A 15: 101,453,540 (GRCm39) D282V probably benign Het
Lemd1 G T 1: 132,155,990 (GRCm39) E11* probably null Het
Maml2 A G 9: 13,532,294 (GRCm39) T503A probably benign Het
Mief2 A G 11: 60,622,485 (GRCm39) T352A probably benign Het
Msantd1 C A 5: 35,075,049 (GRCm39) T37K probably benign Het
Mtus2 A G 5: 148,243,462 (GRCm39) E94G probably damaging Het
Naaa A T 5: 92,407,440 (GRCm39) L353Q probably benign Het
Nek5 T C 8: 22,610,838 (GRCm39) E55G probably benign Het
Npat T C 9: 53,474,749 (GRCm39) M847T probably damaging Het
Nus1 G A 10: 52,309,539 (GRCm39) V268I probably benign Het
Parn C T 16: 13,485,428 (GRCm39) D23N probably damaging Het
Pdgfa T C 5: 138,964,954 (GRCm39) E176G probably damaging Het
Plcl1 T A 1: 55,735,405 (GRCm39) F249I probably damaging Het
Plscr5 C T 9: 92,086,488 (GRCm39) Q153* probably null Het
Polr2b T C 5: 77,468,099 (GRCm39) I133T probably benign Het
Polr3c A G 3: 96,620,930 (GRCm39) S463P probably damaging Het
Pprc1 A T 19: 46,060,171 (GRCm39) I1530L probably damaging Het
Prex1 C T 2: 166,423,904 (GRCm39) S996N probably damaging Het
Rnf169 C A 7: 99,576,330 (GRCm39) R291S possibly damaging Het
Setd5 A G 6: 113,087,480 (GRCm39) K127R probably damaging Het
Slc25a26 G T 6: 94,487,807 (GRCm39) V89L probably benign Het
Slc4a10 A G 2: 61,877,034 (GRCm39) T16A probably benign Het
Smchd1 A T 17: 71,747,951 (GRCm39) H430Q probably damaging Het
Ttll7 A T 3: 146,640,290 (GRCm39) D503V probably damaging Het
Vav2 A T 2: 27,161,912 (GRCm39) probably null Het
Zbtb47 T C 9: 121,591,937 (GRCm39) S86P possibly damaging Het
Zfp345 A T 2: 150,314,437 (GRCm39) C367S probably damaging Het
Zfp964 T A 8: 70,116,106 (GRCm39) H235Q possibly damaging 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
R3854:Or51r1 UTSW 7 102,228,227 (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
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'- TTCAGAGAAGCAAGCACTCCTAG -3'
(R):5'- AGAAATCGAAGGGCAGCTCC -3'

Sequencing Primer
(F):5'- AATGGCTATGAGTCAGCTCTTC -3'
(R):5'- AGCTCCCGAGTACCCAG -3'
Posted On 2017-06-26