Incidental Mutation 'R5486:Or52d1'
ID 430365
Institutional Source Beutler Lab
Gene Symbol Or52d1
Ensembl Gene ENSMUSG00000073931
Gene Name olfactory receptor family 52 subfamily D member 1
Synonyms Olfr646, MOR33-2, GA_x6K02T2PBJ9-6841330-6842268
MMRRC Submission 043047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R5486 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103754080-103758973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103755705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 73 (T73N)
Ref Sequence ENSEMBL: ENSMUSP00000149102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098182] [ENSMUST00000138055] [ENSMUST00000214099]
AlphaFold Q8VGW2
Predicted Effect probably damaging
Transcript: ENSMUST00000098182
AA Change: T73N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: T73N

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 1.9e-109 PFAM
Pfam:7TM_GPCR_Srsx 32 225 6.1e-10 PFAM
Pfam:7tm_1 38 290 3.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000214099
AA Change: T73N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214291
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 90.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik G T 10: 115,415,810 (GRCm39) probably benign Het
Acad8 A T 9: 26,910,791 (GRCm39) M1K probably null Het
Adam12 C A 7: 133,509,401 (GRCm39) R786S possibly damaging Het
Add3 G A 19: 53,232,818 (GRCm39) V604I probably benign Het
Alpk2 A T 18: 65,427,425 (GRCm39) probably null Het
Ano3 T C 2: 110,576,215 (GRCm39) D102G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
Bod1l A T 5: 41,964,524 (GRCm39) D2693E possibly damaging Het
Ccdc7a T C 8: 129,711,884 (GRCm39) N284D probably damaging Het
Clic6 A G 16: 92,326,740 (GRCm39) probably null Het
Cln5 T C 14: 103,313,630 (GRCm39) I294T probably damaging Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Cyp2d9 T A 15: 82,336,779 (GRCm39) W43R probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Erlec1 A T 11: 30,885,047 (GRCm39) H413Q probably damaging Het
Fam168a T A 7: 100,483,376 (GRCm39) M203K probably damaging Het
Fat2 A T 11: 55,144,507 (GRCm39) S4122R probably benign Het
Fgd4 A T 16: 16,292,901 (GRCm39) L272Q probably damaging Het
Hpcal4 A G 4: 123,084,557 (GRCm39) K162R probably benign Het
Iars1 T A 13: 49,863,049 (GRCm39) probably null Het
Lbr A G 1: 181,646,403 (GRCm39) probably null Het
Lrp2 T C 2: 69,267,809 (GRCm39) I4259V probably benign Het
Mcm3 C T 1: 20,885,118 (GRCm39) G189S probably damaging Het
Nr1d2 A G 14: 18,206,860 (GRCm38) V137A possibly damaging Het
Or52n3 T A 7: 104,530,168 (GRCm39) C85S probably benign Het
Or7g33 A G 9: 19,448,590 (GRCm39) V212A probably benign Het
Pim3 T C 15: 88,747,425 (GRCm39) V97A possibly damaging Het
Piwil2 T C 14: 70,638,880 (GRCm39) N479S probably benign Het
Pld3 C A 7: 27,233,156 (GRCm39) W365L probably damaging Het
Plk3 C A 4: 116,987,600 (GRCm39) E412* probably null Het
Psmd1 A G 1: 86,064,772 (GRCm39) I935V possibly damaging Het
Sh2b2 A G 5: 136,260,944 (GRCm39) S91P probably benign Het
Skor2 A G 18: 76,946,395 (GRCm39) N39S unknown Het
Slc22a22 A G 15: 57,126,847 (GRCm39) V55A probably damaging Het
Smg7 A G 1: 152,721,927 (GRCm39) S595P probably damaging Het
Snrnp200 C T 2: 127,074,986 (GRCm39) P1520S possibly damaging Het
Taar7a T A 10: 23,868,356 (GRCm39) T342S probably benign Het
Tecpr2 A T 12: 110,899,449 (GRCm39) I606F probably benign Het
Tex19.2 A T 11: 121,008,304 (GRCm39) M48K probably benign Het
Thoc1 A G 18: 9,992,204 (GRCm39) T511A probably benign Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 101,744,420 (GRCm39) probably null Het
Ubr5 C A 15: 38,008,983 (GRCm39) A1077S probably benign Het
Wdr95 A T 5: 149,519,795 (GRCm39) R571* probably null Het
Other mutations in Or52d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01779:Or52d1 APN 7 103,755,840 (GRCm39) missense probably damaging 1.00
IGL02454:Or52d1 APN 7 103,755,819 (GRCm39) missense probably damaging 0.96
IGL02588:Or52d1 APN 7 103,756,260 (GRCm39) missense possibly damaging 0.94
IGL02961:Or52d1 APN 7 103,756,357 (GRCm39) nonsense probably null
IGL03092:Or52d1 APN 7 103,755,854 (GRCm39) missense probably damaging 0.99
PIT4402001:Or52d1 UTSW 7 103,755,657 (GRCm39) missense probably damaging 1.00
R0006:Or52d1 UTSW 7 103,755,527 (GRCm39) missense probably benign 0.00
R0109:Or52d1 UTSW 7 103,755,812 (GRCm39) missense probably damaging 1.00
R0109:Or52d1 UTSW 7 103,755,812 (GRCm39) missense probably damaging 1.00
R0601:Or52d1 UTSW 7 103,756,349 (GRCm39) missense possibly damaging 0.83
R0732:Or52d1 UTSW 7 103,755,501 (GRCm39) missense probably damaging 1.00
R1320:Or52d1 UTSW 7 103,755,687 (GRCm39) missense probably damaging 1.00
R1468:Or52d1 UTSW 7 103,755,896 (GRCm39) missense possibly damaging 0.82
R1468:Or52d1 UTSW 7 103,755,896 (GRCm39) missense possibly damaging 0.82
R1513:Or52d1 UTSW 7 103,755,671 (GRCm39) missense probably benign 0.02
R6110:Or52d1 UTSW 7 103,755,779 (GRCm39) missense probably damaging 1.00
R6497:Or52d1 UTSW 7 103,756,422 (GRCm39) intron probably benign
R6856:Or52d1 UTSW 7 103,755,998 (GRCm39) missense probably benign 0.00
R7766:Or52d1 UTSW 7 103,756,201 (GRCm39) nonsense probably null
R7789:Or52d1 UTSW 7 103,756,195 (GRCm39) missense probably damaging 0.99
R7844:Or52d1 UTSW 7 103,755,690 (GRCm39) missense probably damaging 1.00
R8888:Or52d1 UTSW 7 103,756,302 (GRCm39) missense probably damaging 1.00
R8895:Or52d1 UTSW 7 103,756,302 (GRCm39) missense probably damaging 1.00
R9167:Or52d1 UTSW 7 103,756,426 (GRCm39) makesense probably null
R9178:Or52d1 UTSW 7 103,755,720 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAAGCCCTTCGTGTGCCAAG -3'
(R):5'- ATCTCAGTGGGTTGCAGATAG -3'

Sequencing Primer
(F):5'- TTCGTGTGCCAAGACAGAC -3'
(R):5'- GCTACATATCGATCAAAGGCCATGG -3'
Posted On 2016-10-05