Incidental Mutation 'R6476:Or51d1'
ID 516786
Institutional Source Beutler Lab
Gene Symbol Or51d1
Ensembl Gene ENSMUSG00000073967
Gene Name olfactory receptor family 51 subfamily D member 1
Synonyms MOR18-3, Olfr557, GA_x6K02T2PBJ9-5414934-5415902
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R6476 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102347423-102348479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102348310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 288 (N288K)
Ref Sequence ENSEMBL: ENSMUSP00000150621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094124] [ENSMUST00000098218] [ENSMUST00000215423]
AlphaFold E9Q550
Predicted Effect probably benign
Transcript: ENSMUST00000094124
SMART Domains Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.2e-117 PFAM
Pfam:7TM_GPCR_Srsx 37 308 2.4e-7 PFAM
Pfam:7tm_1 43 293 2.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098218
AA Change: N288K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095821
Gene: ENSMUSG00000073967
AA Change: N288K

DomainStartEndE-ValueType
Pfam:7tm_4 42 320 7.9e-114 PFAM
Pfam:7TM_GPCR_Srsx 46 317 2.7e-7 PFAM
Pfam:7tm_1 52 302 3.5e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215423
AA Change: N288K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,699 (GRCm39) V126A probably benign Het
Adamts20 T C 15: 94,259,691 (GRCm39) Q336R probably benign Het
Ankrd36 A G 11: 5,578,753 (GRCm39) T6A probably benign Het
Arhgap33 A G 7: 30,223,837 (GRCm39) S731P probably damaging Het
Arhgef10l G C 4: 140,338,693 (GRCm39) P23R probably damaging Het
Atf7 T C 15: 102,502,147 (GRCm39) D3G probably benign Het
Caps2 A G 10: 112,011,465 (GRCm39) T30A possibly damaging Het
Ccdc15 A T 9: 37,253,715 (GRCm39) I191N probably benign Het
Cep170 A T 1: 176,607,917 (GRCm39) S180T possibly damaging Het
Chd1 G A 17: 17,601,250 (GRCm39) probably null Het
Col6a3 A T 1: 90,709,534 (GRCm39) N1887K unknown Het
Csgalnact1 C T 8: 68,913,761 (GRCm39) S148N probably damaging Het
Csgalnact1 T A 8: 68,913,762 (GRCm39) S148C probably damaging Het
Dnah14 A G 1: 181,572,333 (GRCm39) E2888G probably benign Het
Dnah7b T A 1: 46,281,364 (GRCm39) Y2808* probably null Het
Dock10 A C 1: 80,518,959 (GRCm39) L1254* probably null Het
Eml2 T C 7: 18,930,236 (GRCm39) V511A probably benign Het
Eml6 A G 11: 29,741,971 (GRCm39) probably null Het
Erbin C A 13: 103,977,755 (GRCm39) D601Y probably damaging Het
Farsa A G 8: 85,583,809 (GRCm39) E49G probably damaging Het
Fzd7 A G 1: 59,523,154 (GRCm39) M346V probably damaging Het
Gatd3a T C 10: 78,003,347 (GRCm39) N102D probably damaging Het
Glg1 A C 8: 111,926,806 (GRCm39) S170A possibly damaging Het
Gpx3 A T 11: 54,798,025 (GRCm39) I54F probably damaging Het
H6pd G A 4: 150,067,184 (GRCm39) H401Y probably damaging Het
Hspb8 A G 5: 116,560,457 (GRCm39) S28P probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Krt9 A T 11: 100,081,640 (GRCm39) D296E probably damaging Het
Lcor C T 19: 41,571,518 (GRCm39) T237I probably benign Het
Lnx1 A G 5: 74,768,541 (GRCm39) V349A possibly damaging Het
Map3k6 A T 4: 132,977,397 (GRCm39) S915C probably damaging Het
Mecom C A 3: 30,034,717 (GRCm39) A510S possibly damaging Het
Mettl14 A G 3: 123,167,686 (GRCm39) I224T probably damaging Het
Mme T C 3: 63,251,056 (GRCm39) probably null Het
Nbea T A 3: 55,912,227 (GRCm39) T1187S probably benign Het
Ndor1 T C 2: 25,138,154 (GRCm39) T444A possibly damaging Het
Nhlrc1 A G 13: 47,167,657 (GRCm39) L200P possibly damaging Het
Npc1 G T 18: 12,334,751 (GRCm39) S667* probably null Het
Nscme3l A C 19: 5,553,253 (GRCm39) I176S probably damaging Het
Or14a256 C T 7: 86,265,218 (GRCm39) V212I probably benign Het
Or1l8 T A 2: 36,817,595 (GRCm39) H177L possibly damaging Het
Or4c109 T A 2: 88,817,721 (GRCm39) D275V probably benign Het
Or5g9 T A 2: 85,551,928 (GRCm39) Y60N probably damaging Het
Pds5a A C 5: 65,791,630 (GRCm39) I773R possibly damaging Het
Pgr T A 9: 8,964,839 (GRCm39) probably null Het
Plscr4 A T 9: 92,372,819 (GRCm39) M314L probably benign Het
Polr2m A G 9: 71,390,752 (GRCm39) V46A probably benign Het
Ptk2b T A 14: 66,424,923 (GRCm39) M174L possibly damaging Het
Sec31a A T 5: 100,534,008 (GRCm39) F521I probably benign Het
Serpinb3d T C 1: 107,011,071 (GRCm39) N47S probably benign Het
Shld2 T C 14: 33,989,971 (GRCm39) S312G probably benign Het
Slc24a3 T A 2: 145,448,750 (GRCm39) D431E probably benign Het
Slc34a1 C A 13: 23,996,569 (GRCm39) H25N probably damaging Het
Slc9a9 T C 9: 94,567,191 (GRCm39) F87L probably benign Het
Spata31 T A 13: 65,065,456 (GRCm39) S54T possibly damaging Het
Spata6 T C 4: 111,632,020 (GRCm39) S144P probably damaging Het
Sppl2c A G 11: 104,077,595 (GRCm39) N132D probably benign Het
Ssu2 C T 6: 112,351,793 (GRCm39) G311S probably damaging Het
Syne1 T A 10: 5,104,531 (GRCm39) Q6328L possibly damaging Het
Tie1 T C 4: 118,330,062 (GRCm39) T1054A possibly damaging Het
Tnfaip6 T G 2: 51,942,328 (GRCm39) D212E probably benign Het
Tnxb A G 17: 34,909,166 (GRCm39) T1442A probably damaging Het
Trim35 C T 14: 66,546,244 (GRCm39) T337M probably damaging Het
Vipr1 T C 9: 121,498,489 (GRCm39) V413A probably benign Het
Vmn1r19 C G 6: 57,381,578 (GRCm39) Q44E probably damaging Het
Zfp1002 T C 2: 150,097,246 (GRCm39) D61G probably benign Het
Zfp266 G T 9: 20,410,577 (GRCm39) H533Q probably damaging Het
Zfp689 T C 7: 127,043,896 (GRCm39) S245G probably damaging Het
Other mutations in Or51d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02526:Or51d1 APN 7 102,348,291 (GRCm39) missense possibly damaging 0.88
R0881:Or51d1 UTSW 7 102,348,291 (GRCm39) missense possibly damaging 0.88
R2033:Or51d1 UTSW 7 102,348,369 (GRCm39) missense probably benign 0.01
R4650:Or51d1 UTSW 7 102,348,027 (GRCm39) missense probably damaging 1.00
R4703:Or51d1 UTSW 7 102,347,477 (GRCm39) missense probably benign 0.01
R4792:Or51d1 UTSW 7 102,347,933 (GRCm39) missense probably damaging 1.00
R7179:Or51d1 UTSW 7 102,347,477 (GRCm39) missense probably benign 0.00
R7269:Or51d1 UTSW 7 102,348,252 (GRCm39) missense probably damaging 1.00
R8690:Or51d1 UTSW 7 102,348,028 (GRCm39) missense probably damaging 0.99
R8691:Or51d1 UTSW 7 102,347,777 (GRCm39) nonsense probably null
R9381:Or51d1 UTSW 7 102,347,654 (GRCm39) missense probably damaging 1.00
R9651:Or51d1 UTSW 7 102,347,832 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATCCTATCAGTCATGGGTGTGG -3'
(R):5'- GTTGCATGATGTGGTCAGATCC -3'

Sequencing Primer
(F):5'- CTATCAGTCATGGGTGTGGACTCC -3'
(R):5'- GCATGATGTGGTCAGATCCTTATCC -3'
Posted On 2018-05-21