Incidental Mutation 'R5337:Or51r1'
ID 423570
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 042917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5337 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102220638-102228869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102228481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 260 (S260P)
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: S260P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095828
Gene: ENSMUSG00000073975
AA Change: S260P

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: S260P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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
Abhd15 T A 11: 77,409,665 (GRCm39) probably null Het
Akap8l A G 17: 32,555,368 (GRCm39) M237T possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Api5 G T 2: 94,256,033 (GRCm39) A218E possibly damaging Het
Bltp2 T A 11: 78,156,034 (GRCm39) I182N possibly damaging Het
Cfap68 C A 9: 50,677,049 (GRCm39) C14F probably benign Het
Cftr A G 6: 18,319,058 (GRCm39) D1336G probably damaging Het
Chd1l G A 3: 97,469,932 (GRCm39) R865W probably damaging Het
Cimip2b C T 4: 43,427,687 (GRCm39) probably null Het
Cmya5 T C 13: 93,219,781 (GRCm39) K3223E probably benign Het
Cspg4b T A 13: 113,455,299 (GRCm39) H448Q probably damaging Het
Cuzd1 A G 7: 130,917,803 (GRCm39) Y266H probably damaging Het
Dnajc5b A T 3: 19,628,946 (GRCm39) Y80F probably damaging Het
Dock6 A G 9: 21,740,844 (GRCm39) S915P possibly damaging Het
Fat4 T A 3: 38,945,776 (GRCm39) D1556E probably damaging Het
Fat4 A G 3: 39,064,527 (GRCm39) T4828A probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja3 T G 14: 57,273,289 (GRCm39) D361A probably benign Het
Gpr155 T C 2: 73,178,592 (GRCm39) E704G probably benign Het
Greb1l A G 18: 10,509,143 (GRCm39) E485G probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
H6pd A G 4: 150,066,241 (GRCm39) V715A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnip1 T G 11: 33,592,389 (GRCm39) probably benign Het
Kif21b T C 1: 136,098,881 (GRCm39) S1390P probably damaging Het
Lrrc61 G A 6: 48,545,308 (GRCm39) V44M probably damaging Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mgat5 T C 1: 127,387,658 (GRCm39) F538S possibly damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndst1 A T 18: 60,823,079 (GRCm39) L829Q probably damaging Het
Neto1 A T 18: 86,416,434 (GRCm39) H47L probably benign Het
Or10ak11 T C 4: 118,686,863 (GRCm39) Y258C probably benign Het
Or10p22 A G 10: 128,826,548 (GRCm39) T256A probably benign Het
Or5p61 A T 7: 107,758,480 (GRCm39) V200D probably benign Het
Or6c214 A T 10: 129,590,403 (GRCm39) C305* probably null Het
Pds5b T C 5: 150,717,062 (GRCm39) F1120L probably benign Het
Phkb A G 8: 86,604,874 (GRCm39) Y93C probably damaging Het
Pilra C T 5: 137,834,032 (GRCm39) probably benign Het
Pmvk T C 3: 89,375,878 (GRCm39) V146A probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Psg23 A T 7: 18,345,997 (GRCm39) W233R probably benign Het
Rgl2 A T 17: 34,153,958 (GRCm39) I455F probably damaging Het
Rhpn1 A G 15: 75,580,054 (GRCm39) Q39R probably benign Het
Rims4 T G 2: 163,707,763 (GRCm39) M100L probably benign Het
Sacs T A 14: 61,430,963 (GRCm39) probably benign Het
Slfn4 T C 11: 83,080,055 (GRCm39) F189L probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tmem127 T C 2: 127,098,065 (GRCm39) Y129H probably damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Trpc3 A T 3: 36,692,519 (GRCm39) probably benign Het
Tsga10ip A T 19: 5,444,363 (GRCm39) S23T probably benign Het
Tut7 G A 13: 59,939,666 (GRCm39) T695I probably damaging Het
Uspl1 T C 5: 149,151,556 (GRCm39) S720P probably damaging Het
Zc3h18 A G 8: 123,113,641 (GRCm39) D211G probably damaging Het
Zswim4 G A 8: 84,961,708 (GRCm39) P55L probably 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
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'- ACTGCTACTGTCTGCACTGC -3'
(R):5'- AGGAAATATCAACCCTCTTCTGC -3'

Sequencing Primer
(F):5'- ACTGGCTTGCTCAGACAC -3'
(R):5'- TCTGCTGGAAACGCCTTAAG -3'
Posted On 2016-08-04